Diko : en:infantile, late-infantile, juvenile, and adult onset have been reported

en:infantile, late-infantile, juvenile, and adult onset have been reported

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1850464

Associations d'idées

[F]

›

1000

en:usually sporadic

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en:homo sapiens do not have a functional l-gulonolactone oxidase gene

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en:slightly increased female:male ratio (1.4:1 to 2:1)

•

en:seizures may improve with age

•

en:reduced life expectancy

•

en:possibly allelic to cohen syndrome (216550)

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en:phenotypic variation

•

en:patients may become totally dependent for all activities of daily living

•

en:pain in lower limb

•

en:onset usually in early childhood (but can range from infancy to adulthood)

•

en:onset between 18 and 65 years

•

en:one family of french-canadian origin has been reported (last curated july 2015)

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en:may be precipitated by minor illness (e.g., viral infection, fever)

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en:incidence of 1 in 300,000

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en:heterozygotes are usually asymptomatic

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en:service comment 57:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:four types of opll - segmental (39%), continuous (27%), mixed (29%), other (5%)

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en:fever, muscle cramping, and poor feeding remit by age 2 years

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en:central apneic episodes may be fatal

•

en:benign, asymptomatic defect

•

en:based on report of 2 patients with dhtkd1 mutation (last curated november 2014)

•

en:anemia, diabetes, and deafness often show onset at different ages

•

en:allelic disorder to ebs dowling-meara (131760), ebs koebner (131900), and ebs weber-cockayne (131800)

•

en:age of onset of distal lower limb weakness 8-16 years

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en:adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis

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en:service comment 78:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:service comment 22:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:performing laboratory name:identifier:point in time:facility:nominal

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en:treatment with sulfonylurea can be effective

•

en:vast majority of heterozygotes are asymptomatic

•

en:onset 1-12 years

•

en:'variant' form of x-linked cgd retains residual cytochrome b(-245)

•

en:median age at diagnosis, 59 years

•

en:some patients may respond to thiamine treatment

•

en:seasonal variation in severity of skin symptoms reported by some patients

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en:about 50% of patients have intellectual disability and/or hydrocephalus

•

en:prevalence in taiwan is 1 in 132,000

•

en:patients may require implantable cardioverter defibrillators

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en:patients may become ventilator-dependent

•

en:onset of gait abnormalities at 8 to 40 years

•

en:onset occurs earlier in males than females

•

en:onset in infancy (1-2 years)

•

en:onset around puberty

•

en:newborn period is critical for survival

•

en:most pregnancies with affected fetuses resulted in elective termination

•

en:most patients develop symptoms while on prophylactic vitamin d supplementation in infancy

•

en:retinal holes were present in an asymptomatic female carrier

•

en:mean age at onset 66.8 years (range 47-77)

•

en:crisis precipitated by high altitude exposure

•

en:increased spontaneous abortions in carrier mothers

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en:adult onset (range 15 to 53 years)

•

en:age of onset/diagnosis 12-35 years

•

en:age of onset from third to sixth decade of life

•

en:based on report of 2 consanguineous arab families (last curated november 2014)

•

en:age at diagnosis 2-4 months

•

en:dyskinesia may be precipitated by alcohol, stress, or fatigue

•

en:increased risk of developing multiple primary cancers

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en:genetic heterogeneity (see cmt2a2 609260, cmt2b 600882, cmt2c 606071, cmt2d 601472, cmt2e 607684, cmt2f 606595, cmt2i 607677)

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en:heterogeneous disorder

•

en:incidence in united states of 1 in 55,000

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en:genetic heterogeneity, see also pfic2 (601847), pfic3 (602347)

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en:no preceding skin inflammatory stage

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en:onset before age 5 years in the absence of instruction

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en:onset birth to early infancy

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en:onset of seizures between 8 and 11 months of age

•

en:phenotype is classically defined as aplasia cutis and transverse limb defects

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en:onset of vision loss in young adulthood (<20 years)

•

en:penetrance is usually complete by age 65 years

•

en:phenotypic overlap with desbuquois dysplasia (251450)

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en:poor response to acetylcholinesterase inhibitors

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en:normal development before onset of seizures

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en:sudden cardiac death in some families

•

en:no male-to-male transmission

•

en:death occurs 10 to 20 years after onset

•

en:normal birth (finding)

•

en:most patients die in early childhood

•

en:individuals may accumulate more pigment in hair and eyes with age

•

en:hearing loss occurs later if at all

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en:full recovery after attacks

•

en:flunarizine treatment may be beneficial

•

en:early death may occur due to infection

•

en:death in childhood often results from respiratory insufficiency

•

en:both recessive and dominant inheritance have been reported

•

en:allelic to eec3 (604292), shfm4 (605289), adult syndrome (103285), limb-mammary syndrome (603543), and rapp-hodgkin syndrome (129400)

•

en:allelic disorder to schindler disease (609241)

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en:allelic disorder to margarita island type of ectodermal dysplasia (225060)

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en:variable age at onset (range 9 to 78 years)

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en:early onset in some patients

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en:service comment 45:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:onset in neonatal period or infancy

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en:about half of patients with gjb2/gjb6 deafness report vestibular symptoms

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en:treatment with betaine, especially for pyridoxine nonresponders

•

en:some patients may have normal psychomotor development

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en:seizures occur in absence of intracranial infection or defined pathologic or traumatic cause

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en:prevalence of 1 in 50,000-70,000 live births

•

en:prevalence of 1 in 150 to 1 in 1,000

•

en:premature death may occur

•

en:patients may or may not have dysmorphic features

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en:onset of distal muscle weakness in adulthood (range twenties to forties), however, pes cavus or percussion-inducted contractions may be present earlier

•

en:progression to profound hearing loss affecting all frequencies

•

en:onset by 7-8 years of age progressing to moderate-to-severe loss of mid and high frequencies during adulthood in a consanguineous iranian family

•

en:genetic heterogeneity (see 304800)

•

en:based on 1 patient with compound heterozygous mutation in ttc21b (last curated february 2014)

•

en:onset between 12 and 30 years (average 22)

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en:cataract evident at birth

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en:early lethality

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en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only

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en:genetic heterogeneity (see, e.g., 600795, 105550)

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en:genetic heterogeneity (see cmt1a 118220, cmt1c 601098, cmt1d 607678, cmt1f 607734)

•

en:hepatic failure develops in first months of life

•

en:may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents

•

en:may or may not be responsive to pyridoxine (vitamin b6) treatment

•

en:most patients have adult onset of symptoms

•

en:muscle weakness occurs only in the presence of hyperthyroidism

•

en:median age of onset of pancytopenia - 10 years (range 1-32 years)

•

en:one patient with compound heterozygous pnpla8 mutations has been reported (last curated may 2015)

•

en:no peripheral signs of hypothyroidism

•

en:ocular phenotype falls within a spectrum of retinal dystrophy from severe, leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa

•

en:often associated with chiari type i malformation (cm1, 118420)

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en:one consanguineous family has been reported (last curated may 2013)

•

en:one family has been reported

•

en:three families have been reported (last curated july 2013)

•

en:one patient with severe congenital onset has been reported

•

en:onset in adolescence or adulthood has been reported

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en:presentation in childhood includes waddling gait and knee pain/stiffness

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en:responsive to high-dose biotin or biotin/thiamine treatment

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en:sudden death in affected females occurs in the forties

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en:symptoms usually appear in adulthood

•

en:torso and upper body remain normal in shape and contour

•

en:many become wheelchair bound

•

en:marked inter- and intrafamilial variability, ranging from prenatal onset with severe symptoms to asymptomatic affected individuals

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en:based on report of 2 siblings and 1 patient (last curated december 2014)

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en:male predominance of 3:1 to 5:1

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en:death usually in infancy

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en:reference lab test identifier:id:xxx:reference lab test:nom

•

en:adult form onset has after 20 years

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en:association with autoimmune diseases

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en:bullae are located randomly in familial cases and apical in sporadic cases

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en:caused by a defect in bile acid transport

•

en:centromeric instability of chromosomes 1, 9 and 16 with increased somatic recombination and formation of multibranched configurations

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en:described in 3 unrelated infants (last curated january 2013)

•

en:late infantile form has onset between 19 months and 4 years

•

en:door is acronym for deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures

•

en:features based on one australian/uk family with tmem98 mutation (last curated august 2014)

•

en:female carriers may have subtle manifestations

•

en:high incidence in iraqis and sephardic jewish individuals

•

en:incidence 1 in 15,000-28,000 births

•

en:incidence of 1 in 50,000 to 1 in 100,000

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en:intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years

•

en:ultrarapid metabolizers have multiple copies of the cyp2d6 gene (124030.0007)

•

en:variable severity between patients and between eyes (in some patients)

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en:about 10% of patients have a severe early onset in the first months of life

•

en:onset usually after age 40

•

en:no mutations reported in la reunion island patients (last curated august 2014)

•

en:oculomotor apraxia is not always present

•

en:one 3-generation italian family has been described (last curated august 2015)

•

en:one consanguineous pakistani family and 1 unrelated patient have been reported (last curated september 2015)

•

en:onset in first decade after normal early development

•

en:onset in young adulthood or adulthood

•

en:onset usually by age 2 years

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en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)

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en:progresses to involve upper limbs

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en:recessive inheritance has been reported

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en:scalp hair quality improves during pregnancy

•

en:affected, mild - 50-150 repeats

•

en:some heterozygotes exhibit a mild phenotype of cutaneous syndactyly between the second and third toes

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en:mean age of onset 22 years (range 5-54)

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en:see 609888 for a discussion on leprosy susceptibility

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en:keratitis-ichthyosis-deafness syndrome

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en:clinical triad - dysmorphic features, cardiac arrhythmia, and potassium-sensitive periodic paralysis

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en:incidence of 1 in 25,000 to 1 in 50,000 newborns

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en:allelic disorder to autosomal recessive form (224900)

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en:allelic disorder to the zlotogora-ogur syndrome (225000)

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en:based on report of 1 3-generation family (last curated november 2014)

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en:based on report of 1 family (last curated december 2012)

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en:bone fragility is not apparent at birth, but becomes evident within several months of life

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en:classic hepatic form begins in first months of life with hepatic failure and death by age 5 years

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en:allelic to brachydactyly, type a2 (112600)

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en:compound heterozygosity common

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en:high frequency in tibetan individuals

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en:early death occurs in affected infants (days to months after disease onset)

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en:female carriers may have mild hearing impairment and/or mild signs of choroideremia

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en:genetic heterogeneity, see spg3a (182600)

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en:genetic heterogeneity (see mcc2 deficiency 210210)

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en:genetic heterogeneity of waardenburg syndrome type 2

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en:early death in males

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en:onset in first 6 months of life

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en:patients may become wheelchair-bound as adults

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en:presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting

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en:progresses through puberty, then stabilizes

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en:right side affected greater than left side

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en:spectrum of laterality defects

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en:some boys with premutations (55 to 200 repeats) may show milder features, including autistic features

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en:some carrier females have mild features

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en:subtype 3c (231005) comprises cardiovascular calcifications

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en:surviving infants develop severe nonbullous ichthyosiform erythroderma

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en:one family has been reported (as of june 2011)

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en:one family of algerian descent has been reported (last curated february 2015)

•

en:c10orf2 mutations account for approximately 35% of all peo cases

•

en:neurologic dysfunction is infrequent and associated with delayed diagnosis

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en:limb malformations are variable

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en:initially normal for first 6-18 months which is then followed by withdrawal and regression

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en:hair regrowth may occur later in life

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en:genetic heterogeneity (see cmt4b2, 604563)

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en:exacerbation at puberty

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en:epilepsy with grand mal seizures on awakening (egma, 607628)

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en:death in utero or early infancy

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en:considered to be a severe form of gaucher disease type ii (230900)

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en:associated with malignant hyperthermia (mhs, 145600)

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en:associated with increasing age

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en:allelic to metaphyseal dysplasia without hypotrichosis (250460)

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en:10% due to paternal deletion

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en:tremor is aggravated by low glucose or light

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en:the lower the s-ado:saicar ratio, the more severe the phenotype

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en:some patients may have a milder phenotype

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en:type 2 - hereditary opalescent dentin, not associated with bone defect (125490)

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en:loss of ambulation within 10 years of onset

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en:variation in slc24a5 has also been associated with variation in skin color (shep4)

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en:susceptibility to infections starts in the first week of life

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en:variable presentation and evolution of symptoms

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en:some patients have a secreted but biologically inactive mutant leptin

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en:prenatal diagnosis by ultrasound

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en:onset of symptoms in adolescence or early adulthood

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en:onset of sensory neuropathy in later adulthood

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en:onset in first decade (range 1 to 7 years)

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en:onset day of life 1-10 in infants fed lactose-containing milk

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en:onset between 7 and 27 years of age

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en:mutations show partial penetrance

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en:mild phenotype

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en:may be x-linked

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en:increased aneuploidy in offspring

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en:carrier frequency in finland 1/40

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en:high pain threshold

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en:affects 1 to 3% of the population

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en:allelic disorder to multiple familial trichoepithelioma 1 (mft1, 601606) and brooke-spiegler syndrome (bss, 605041)

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en:allelic to dentin dysplasia, type 2 (125420)

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en:based on report of 2 sibs in 2008

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en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers

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en:clinical variation

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en:death usually occurs in childhood

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en:end-stage renal disease (ckd stage 5) requiring kidney transplantation is commonly reported

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en:gypsy groups demonstrate a founder effect (1267delg, 100725.0012)

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en:hepatomegaly improves with age and disappears around puberty

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en:acral form of skin peeling limited to hands and feet (609796)

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en:based on report of a chinese father and son (last curated may 2015)

•

en:affected females are infertile

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en:allelic to fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactyly (fuhrmann syndrome, 228930)

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en:attacks tend to decrease with age

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en:based on 2 cousins in a consanguineous family (last curated august 2015)

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en:diabetes mellitus develops in adolescence

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en:carrier rate of 1 in 39 in the saguenay-lac-saint-jean region of quebec

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en:death in childhood occurs without bone marrow transplantation

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en:death in first weeks of life

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en:death often in infancy

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en:diabetes and anemia respond to high doses of thiamine supplementation

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en:wheelchair-bound average 12 years after onset

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en:(4) thiamine-responsive form

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en:onset of cough in early adulthood

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en:very slow progression

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en:some patients require cardiac transplantation

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en:severe infantile form presents before 6 months

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en:prevalence of 1 in 40,000 to 1 in 80,000

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en:precipitated by infection, fasting, or intercurrent illness

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en:onset of disease before 7 years of age

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en:onset of bleeding in infancy or early childhood

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en:onset often begins in childhood or adolescence

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en:increased risk of myeloproliferative disorders in those with somatic mutations

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en:genetic heterogeneity (see, e.g., 608631, 300494, 300497)

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en:food intolerance

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en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3

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en:enzyme replacement therapy will help visceral manifestations but cannot cross blood-brain barrier, so will not help neurodegeneration

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en:difficulty walking

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en:myelodysplastic syndrome developed in 1 of 12 mutation-positive patients

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en:females are more often affected

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en:onset of contractures in utero

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en:genetic heterogeneity (see coxpd1, 609060)

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en:variable phenotype, particularly with regard to cortical malformations

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en:type 2: cloverleaf skull, elbow ankylosis, early demise, sporadic

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en:three patients (2 sisters and 1 unrelated female) have been reported (last curated july 2012)

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en:some patients show no bleeding abnormalities

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en:some patients may show neurologic improvement late in life

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en:responsive to treatment

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en:prevalence of 1 in 100,000

•

en:periventricular heterotopia (300049) is an allelic disorder

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en:original phenotype description based on patients from la reunion island in the indian ocean off the east coast of africa where the incidence is 1/1,500 births

•

en:onset of renal dysfunction in early childhood

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en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood

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en:thorax anomaly ameliorates with age (in some patients)

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en:onset in adolescence or adulthood

•

en:isolated cases

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en:one patient has been reported (last curated january 2014)

•

en:green jaundice occurs only in the context of liver failure or obstructive cholestasis

•

en:high prevalence among individuals of portuguese descent

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en:incidence of 1 in 100,000

•

en:internal organ rupture may occur

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en:increased prevalence in persons of ashkenazi jewish descent

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en:lethal

•

en:mean age of diagnosis 40 years

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en:median age of diagnosis is 28 years

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en:mutations occur de novo

•

en:one 7-year-old boy and 2 fetuses have been reported (last curated april 2015)

•

en:one family has been reported (last curated february 2015)

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en:based on 2 reported patients, 1 male and 1 female (last curated august 2013)

•

en:prevalence of 1 in 30,000 in northern europe

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en:approximately 45% of sma1 patients also are missing both homologs of neuronal apoptosis inhibitory protein (naip, 600355), which may play a role in modifying disease severity

•

en:almost all patients require total parenteral nutrition

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en:u-shaped pattern of temperature-dependent potassium flux (in some patients)

•

en:symptoms precipitated by sudden movements

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en:seizures may remit with age (in some patients)

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en:regional, racial, and ethnic clustering has been noted

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en:highly variable dysmorphic features

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en:patients often require cardiac transplantation

•

en:may progress to upper limbs

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en:major cause of death is heart failure

•

en:increased sensitivity to valproic acid toxicity

•

en:homozygous 9-snp haplotype in the promoter and coding region of malic enzyme 2 (me2, 154270.0001) increases risk for ige (odds ratio 6.1 with 95% confidence interval 2.9-12.7)

•

en:high intrafamilial and interfamilial variability

•

en:greater expression in females

•

en:generally considered to be a benign disorder

•

en:50% of cases are de novo

•

en:death in neonatal period

•

en:carrier females may have mild features

•

en:based on 1 reported family with oca6

•

en:deletions occur de novo

•

en:onset usually in early childhood, although ranges from birth to adulthood

•

en:frequency between 1 in 58,000 to 1 in 1,000,000

•

en:variable age at onset, most often in second decade

•

en:ultrasound detection in second trimester of pregnancy

•

en:some patients have milder phenotype with later onset of symptoms, in second to third decades of life

•

en:some patients have lethal fetal akinesia with death in utero

•

en:skin appears normal at birth, with development of generalized ichthyosis in childhood

•

en:prevalence of true hypoprothrombinemia is 1 in 2 million

•

en:preaxial involvement in approximately 60% of patients

•

en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136)

•

en:symptoms usually manifest in childhood including waddling gait and painful, stiff joints

•

en:onset of ataxia between 1 and 3 years of age

•

en:liver enzymes decrease with age

•

en:onset in second decade of life progresses from mild to profound hearing loss

•

en:genetic heterogeneity, see aprm2 (610422)

•

en:frequent neonatal sudden death

•

en:group c is relatively benign

•

en:most patients become seizure-free by age 3 or 4 years

•

en:onset 50 to 65 years

•

en:onset in childhood of blistering and pigmentary changes

•

en:onset in childhood or teenage years (7 to 16 years)

•

en:onset of symptoms 2-6 years of age

•

en:patients become wheelchair-bound about 10 years after onset

•

en:phenotypic similarities to noonan syndrome (163950)

•

en:prevalence 1 in 1,250

•

en:rare autosomal dominant inheritance has been reported

•

en:recurrent acute episodes of neurologic deterioration associated with febrile illnesses

•

en:relapsing-remitting course

•

en:survival to 5-15 years of age

•

en:see recessive form optb4 (611490)

•

en:see the more common methemoglobinemia types i and ii (250800)

•

en:symptoms often decrease or remit with age

•

en:variable penetrance of these features

•

en:worsening of symptoms during sleep

•

en:onset in second and third decades of life

•

en:onset of choroideremia in second to third decade

•

en:based on report of 2 unrelated patients (last curated may 2015)

•

en:onset birth to 6 months

•

en:caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to jansen type metaphyseal chondrodysplasia, 156400

•

en:age at onset 3 to 23 years

•

en:citation:bib:pt:reference lab test:nar

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en:service comment 42:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:adult-onset is referred to as small fiber neuropathy

•

en:age at onset ranges from childhood to adulthood

•

en:allelic disorder to infantile neuroaxonal dystrophy (256600)

•

en:average age at onset 38 years

•

en:contiguous gene duplication syndrome

•

en:onset between 2 and 4 years of age

•

en:contractures other than plantar are less common and less severe

•

en:distinctive and stereotyped sequence of events

•

en:favorable response to flunarizine

•

en:male patients have more severe disease than female patients

•

en:multiple lesions in familial cases

•

en:neonatal/infantile death in most patients

•

en:normal alleles have 10 to 29 repeats and pathologic alleles have 400 to 4,500 repeats

•

en:age at onset 15 to 25 years

•

en:male-to-female ratio 3 to 1

•

en:age at onset ranges from 50 to 70 years

•

en:onset in lower limbs

•

en:mean age at onset of bone fractures, 24 years

•

en:mutation in b3gat3 has been found in 1 emirati family and 1 emirati boy

•

en:normal sialophorin gene

•

en:one consanguineous saudi arabian family has been reported (last curated august 2014)

•

en:one family has been reported (last curated november 2013)

•

en:onset in childhood (range infancy to 14 years)

•

en:onset in teens to late twenties (range 14 to 44 years)

•

en:allelic to mevalonic aciduria (610377)

•

en:partial factor viii deficiency in heterozygous carriers

•

en:patients may show intermittent signs of improvement

•

en:prevalence of sleep terrors about 3% in children

•

en:skin abnormalities tend to decrease with age

•

en:symptoms remain focal

•

en:this specific disorder has been described in 1 family (ke)

•

en:worldwide frequency of 1 in 100,000 infants

•

en:may occur cormorbidly with poland syndrome (173800)

•

en:risk of sudden death due to cardiac arrhythmias

•

en:majority of wws patients die within the first year of life

•

en:death often secondary to pneumonia or congestive heart failure

•

en:increased susceptibility to infections

•

en:all patients have severe hearing loss 10 to 15 years after onset

•

en:based on 2 siblings in a consanguineous family (last curated august 2015)

•

en:based on report of 2 unrelated patients (last curated february 2016)

•

en:both homozygous and heterozygous ednrb mutations have been found

•

en:cells of origin are part of the diffuse neuroendocrine system (dnes)

•

en:death by age 2 years

•

en:based on one large north american family (last curated august 2015)

•

en:despite voluminous steatorrhea, patients' growth and overall state of health is good

•

en:increased risk of miscarriage

•

en:estimated carrier frequency in charlevoix-saguenay region is 1/22

•

en:family a had a severe multisystem disorder resulting in death before age 2 years

•

en:highly variable phenotype with respect to facial dysmorphism and neurologic features

•

en:high early mortality rate if untreated

•

en:hyperlipidemia may be partially responsive to fat-restricted diet

•

en:early-onset severe renal disease

•

en:onset in infancy, but may not be diagnosed until later in mild cases

•

en:onset may also occur in early infancy, adolescence, or adulthood

•

en:onset of overgrowth in the first year of life (in most cases)

•

en:opportunistic infections

•

en:prelingual onset

•

en:prenatal diagnosis available

•

en:range of onset 11 to 50 years

•

en:prevalence of 7 in 100,000 live births

•

en:profound dementia and death usually occurs by age 50 years

•

en:seizures are provoked by immersion in hot or warm water

•

en:one family with 2 sisters have been reported (as of march 2010)

•

en:therapy is placement of implantable cardioverter defibrillator (icd)

•

en:one patient has been reported (last curated april 2014)

•

en:early death in the first few weeks of life

•

en:often lethal in infancy

•

en:neurologic signs onset during adolescence or young adulthood

•

en:mucocutaneous immunodeficiency syndrome may be prominent

•

en:most have resolution of symptoms between 6 and 12 months

•

en:in severe attacks, hemiplegia or coma may last days to weeks

•

en:infantile form has onset within first 6 months of life

•

en:good response to vitamin b12 therapy 'variant 1' has isolated homocystinuria and decreased mecbl

•

en:genetic heterogeneity, see autosomal recessive inheritance of the disorder (271930)

•

en:death occurs in second or third decade

•

en:approximately 80% of cs patients have pten mutations

•

en:age at onset ranges from first to sixth decade

•

en:about 5% of patients have a history of febrile seizures

•

en:service comment 28:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:variable cataract phenotypes within a family

•

en:variable age at onset (birth to adult)

•

en:onset of disease 3-8 years

•

en:variable penetrance

•

en:incidence of 1 in 10,000 live births

•

en:date reference lab test received:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative

•

en:visual and hearing loss are slowly progressive

•

en:subtype of migraine with aura

•

en:striking intrafamilial variability

•

en:single umbilical artery

•

en:signs and symptoms depend on tumor location and activity

•

en:several forms of autosomal recessive spastic paraplegia (see 270800)

•

en:phenotypic similarities to leigh syndrome (256000)

•

en:patients have normal pituitary function

•

en:often confused with tuberous sclerosis (191000)

•

en:neonatal and late-infantile onset

•

en:most cases are caused by the factor v leiden mutation (r506q, 612309.0001)

•

en:late-adult onset

•

en:increased prevalence among women

•

en:two families have been reported (as of june 2011)

•

en:highly variable expression

•

en:central hypoventilation occurs late in the disease and is often fatal

•

en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets

•

en:allelic disorders with overlapping phenotypes include charcot-marie-tooth disease type 1 (cmt1b, 118200 and cmt1a, 118220) and dejerine-sottas syndrome (dss, 145900)

•

en:atypical hemolytic-uremic syndrome shows onset in first 12 months

•

en:based on report of 2 families (last curated january 2014)

•

en:service comment 05:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:death usually due to renal failure by average age 3

•

en:excessive postsurgical blood loss

•

en:fetal death

•

en:genetic heterogeneity (see cmt4b1, 601382)

•

en:genetic heterogeneity (see cmt2b2, 605589)

•

en:echocardiogram and ophthalmologic examination normal

•

en:three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015)

•

en:two families described (last curated november 2013)

•

en:treatment with folinic acid offers some benefit for anemia and seizure control

•

en:three families have been reported (last curated november 2014)

•

en:three males in 1 family have been reported (last curated august 2012)

•

en:three fetuses from 1 family have been reported (last curated august 2015)

•

en:three amish patients have been reported (as of february 2012)

•

en:the acronym midas is microphthalmia, dermal aplasia, sclerocornea

•

en:term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support

•

en:symptoms usually occur in adults

•

en:symptom onset ranges from infancy to adulthood

•

en:type 3: craniosynostosis, early demise, sporadic

•

en:seen more frequently in infants of diabetic mothers

•

en:typically no physical features of albright hereditary osteodystrophy (aho)

•

en:user syndrome type ii (congenital moderate-severe deafness, normal vestibular dysfunction, and onset of retinitis pigmentosa in late second to early third decade) - 3 loci

•

en:usually death in utero or rarely in neonatal period

•

en:usually favorable response to treatment

•

en:variable age at onset (earliest reported 7 years)

•

en:variable age at onset (range birth to 60 years)

•

en:variable age at onset (range first to fourth decade)

•

en:symptoms present from infancy or early childhood

•

en:variable frequency (weekly to yearly)

•

en:symptoms relieved by ovarian suppression

•

en:slowly progressive disease

•

en:symptoms induced by strenuous exercise

•

en:skeletal abnormalities are variable

•

en:variable manifestations

•

en:see 171060.0005 for patients with homozygous abcb4 mutations and unaffected heterozygous family members

•

en:see also dent disease 2 (300555)

•

en:see also mmab (251110)

•

en:see myotonic dystonia 1 (dm1, 160900) for a disorder with a similar phenotype

•

en:seizures are fever-sensitive

•

en:seizure frequency decreases during early childhood

•

en:seizure onset at a mean of 14 months (range 6 to 36 months)

•

en:skin lesions resolve between 6 months and 2 years of age

•

en:susceptibility to infections start in the first year of life

•

en:some affected family members are asymptomatic

•

en:some females are affected

•

en:some heterozygous carriers may have mild manifestations

•

en:some patients become wheelchair-bound in second decade

•

en:some patients can attend special school

•

en:some patients have a crouzon-like appearance

•

en:some patients have a more severe phenotype and have febrile and afebrile seizures after childhood (gefs+)

•

en:some patients have juvenile-onset myoclonic epilepsy

•

en:some patients may be clinically asymptomatic

•

en:some patients may present with adult-onset small fiber neuropathy

•

en:some patients may present with transient neonatal hypotonia, and then later develop classic pmc in childhood

•

en:some patients survive infancy

•

en:stillborn or lethal in the neonatal period

•

en:variable involvement of hematologic parameters

•

en:approximately half of the mutations are de novo

•

en:variable neurologic phenotype

•

en:approximately half of cases are due to unbalanced rearrangements, which may be familial

•

en:age of onset between 6 and 45 years of age

•

en:allelic disorder to limb-mammary syndrome (lms, 603543)

•

en:allelic disorder to rippling muscle disease (rmd, 606072)

•

en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe

•

en:allelic to may-heglin anomaly (155100), sebastian syndrome (605249), epstein syndrome (153650), and deafness, autosomal dominant 17 (603622)

•

en:allelic to myosin storage myopathy (608358)

•

en:allelic to robinow syndrome, autosomal recessive (268310)

•

en:allelic to the more severe pantothenate kinase-associated neurodegeneration (nbia1, 234200)

•

en:all features are unilateral

•

en:all reported mutations have occurred de novo

•

en:alopecia usually occurs around puberty

•

en:approximately 10% of als cases are familial

•

en:approximately 60% of brrs patients have pten mutations

•

en:retinal arteriolar tortuosity develops in adolescence and is progressive

•

en:age at onset in females ranges from childhood to the fourth decade

•

en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)

•

en:associated with imprinting and epigenetic defects in the g-protein, alpha-stimulating 1 gene (gnas1, 139320)

•

en:associated with untreated phenylketonuria (261600)

•

en:autonomic symptoms occur with headaches

•

en:autosomal dominant with complete penetrance

•

en:average duration of illness 8 years

•

en:a severe infantile variant has been rarely reported

•

en:based on 3 patients from 2 families (last curated january 2015)

•

en:based on 4 reported patients (last curated april 2013) repeated first-trimester abortions in mothers of 2 probands

•

en:based on report of 1 saudi arabian family (last curated february 2015)

•

en:based on report of 2 affected brothers in 1 family (last curated october 2015)

•

en:birth incidence approximately 5.1 per million live births

•

en:bone anomalies may be seen on prenatal ultrasound (in some patients)

•

en:age of onset 17 to 68 years (mean 39)

•

en:affected individuals in 1 family also exhibited severe asymmetric lower limb anomalies, which were believed to be due to mutation in another gene

•

en:variable number of nails involved

•

en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:variable onset of seizures from neonatal to first year of life

•

en:variable phenotype depending on residual enzyme activity

•

en:variable severity ranging from asymptomatic euthyroid to severe hypothyroidism

•

en:visual field and color defects invariably present only in patients with advanced loss of vision

•

en:waddling gait, often presenting sign in second year

•

en:waddling gate

•

en:wasting of the hands is the first and most prominent manifestation

•

en:wheelchair use by 10-30 years

•

en:z allele most common, only in caucasians

•

en:age at menopause:time:point in time:^patient:quantitative

•

en:birth date:time stamp -- date and time:point in time:^patient:quantitative

•

en:figure associated with report or note:-:point in time:^patient:-

•

en:reference lab test number and name:identifier:time reported elsewhere:reference lab test:nominal

•

en:service comment 17:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:affected individuals have amnesia for events

•

en:service comment 19:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:service comment 55:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:(3) adult nonnephropathic (219750)

•

en:15 patients from 5 kindreds reported (as of february 2012)

•

en:2-3% due to imprinting defects

•

en:75% of affected individuals are female

•

en:accidental injury to the self (mouth, digits) has been referred by some as 'self-mutilation'

•

en:adult onset (mean 30 years, range 10-65 years)

•

en:adult onset (mean 60 years)

•

en:adult onset (range 12 to 59 years)

•

en:adult onset (thirties to forties)

•

en:affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause

•

en:sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 (613289) and atxn8-opposite strand (603680)

•

en:onset in early childhood (2-4 years)

•

en:responsive to vitamin b12 therapy

•

en:neonatal sepsis

•

en:more frequent in individuals of asian descent

•

en:more than half of patients develop retinal detachments and/or retinoschisis later in life

•

en:most become wheelchair-bound late in life

•

en:most common disorder of fatty acid oxidation (1/13,000 births)

•

en:most common inherited bleeding disorder

•

en:most individuals are wheelchair-bound or bedridden by adolescence

•

en:most patients are clinically asymptomatic and show normal development

•

en:most patients are from finland

•

en:most patients become wheelchair-bound

•

en:most reported cases come from the island of mauritius or nearby islands

•

en:mother who carries the mutation is clinically unaffected

•

en:motor fluctuations

•

en:multiple prenatal fractures

•

en:new skin lesions stop appearing before adolescence

•

en:mean age at onset 5 years

•

en:nonprogressive or slowly progressive

•

en:normal - 5 to 37 copies of (ctg)n repeat in dmpk (605377)

•

en:no abnormalities of skin, hair, teeth, or bones

•

en:occasionally low-dose insulin required

•

en:occurs in ~3% pregnancies in western populations

•

en:one 9-generation family and 1 isolated patient described (last curated march 2014)

•

en:one canadian mennonite family has been reported (last curated november 2012)

•

en:one compound heterozygous patient reported (last curated february 2015)

•

en:one consanguineous family has been reported (last curated november 2015)

•

en:one consanguineous italian family has been reported (last curated august 2015)

•

en:one family has been reported (as of january 2012)

•

en:one family has been reported (last curated february 2014)

•

en:one family has been reported (last curated june 2013)

•

en:mild expression in heterozygous carriers

•

en:mean age at onset 22 years (range 7 to 50 years)

•

en:one patient has been reported (last curated march 2015)

•

en:juvenile absence epilepsy (jae, 607631)

•

en:can be categorized into 3 groups

•

en:high incidence of e. coli sepsis in untreated neonates

•

en:high recurrence rate

•

en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes

•

en:incidence 8/1,000 newborns

•

en:incidence in finland is 1 in 76,000 births

•

en:incidence of 1 in 1.5 million births

•

en:incidence of 1 in 10,000 to 1 in 20,000

•

en:incidence worldwide of 1 in 30,000 to 50,000

•

en:incomplete penetrance (as low as 30% in some cases)

•

en:infants may have acute life-threatening crises

•

en:in adults, may be considered part of a spectrum with hemolytic-uremic syndrome (hus, 235400)

•

en:joint symptoms begin in third or fourth decade

•

en:laboratory findings are variable

•

en:mean age at diagnosis is 38 years(range 11-63 years)

•

en:laryngeal edema can result in asphyxiation

•

en:late-adult onset (age 50 or later)

•

en:late-adult onset (range 50 to 80 years)

•

en:later onset may occur

•

en:levodopa-induced dyskinesias

•

en:long headache duration (greater than 12 hours)

•

en:lower limb weakness is presenting feature

•

en:majority are isolated cases

•

en:many patients recover normally

•

en:marked clinical heterogeneity

•

en:marshall syndrome is allelic to stickler syndrome, type 2 (604841)

•

en:maternal breast milk is protective

•

en:may have less severe phenotype than rsts patients with crebbp mutations

•

en:one family has been reported (last curated march 2016)

•

en:one patient has been reported (last curated september 2013)

•

en:renal failure in second or third decade

•

en:phenotypic similarities to costello syndrome (218040)

•

en:onset usually in adolescence

•

en:onset usually within first weeks of life

•

en:onset within the first decade of life

•

en:paris-trousseau thrombocytopenia can occur in jacobsen syndrome (147791) in which similar platelet defects are accompanied by facial dysmorphism, cardiac defects, mental retardation, and deletion at 11q23

•

en:patients do not exhibit ophthalmoplegia

•

en:patients have normal levels of vitamin a, beta-carotene, and zinc

•

en:patients require achilles tendon lengthening in first or second decade of life

•

en:patients walk on tips of toes with dorsal foot deviated laterally

•

en:patients with meb may acquire ability to walk and a few words

•

en:peak age of onset in second decade

•

en:penetrance by age 50 is 93% in female mutation carriers and 68% in male mutation carriers

•

en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress

•

en:phenotype may be oligogenic in some patients who carry mutations in more than one hh-associated gene

•

en:pigment does not develop with age

•

en:onset of tremor usually before onset of seizures

•

en:poor response to levodopa treatment

•

en:possible genetic heterogeneity (linkage to xp22 in some families)

•

en:possible increase of aneuploidy in offspring

•

en:predominantly occurs in young males with high rate of atopic disease

•

en:presenting symptoms in the upper body

•

en:prevalence in poland is 1 in 129,000

•

en:prevalence of 1 in 70,000

•

en:prevalence ranges from 1 in 12,000 to 1 in 50,000

•

en:prevalent in north africa

•

en:primary teeth affected greater than secondary teeth

•

en:progressive cerebellar ataxia

•

en:quinidine therapy may be effective

•

en:reduced fertility

•

en:onset of visual loss in the first or second decades

•

en:onset of symptoms in early childhood

•

en:one patient with a homozygous mutation has been reported (as of 14 june 2011)

•

en:onset in females ranges from third to seventh decade

•

en:one patient with normal psychomotor development has been reported

•

en:one spanish family has been reported (last curated august 2015)

•

en:only some patients showed neurologic involvement

•

en:onset 6-13 years

•

en:onset 6 to 30 years

•

en:onset around age 2 years

•

en:onset as neonate

•

en:onset by age 2 years

•

en:onset from first to third decades of life

•

en:onset in adolescence or young adulthood has been reported

•

en:onset in adulthood (third to fourth decade)

•

en:onset in childhood or adolescence

•

en:onset in childhood with exacerbation during puberty

•

en:onset in infancy (3 months on)

•

en:onset of symptoms in childhood

•

en:onset in infancy (average 4 months, but may be earlier)

•

en:onset in infancy or late childhood

•

en:onset in late adulthood

•

en:onset in males in first to third decade

•

en:onset in newborns or infants

•

en:onset in second half of the first decade of life

•

en:onset in teens to 20's

•

en:onset of cardiomyopathy may occur several months after birth

•

en:onset of dilated cardiomyopathy less than 3 years

•

en:onset of disease after fourth decade of life

•

en:onset of disease in fourth or fifth decade of life

•

en:onset of hand involvement at 14 to 60 years

•

en:onset of hearing loss in late childhood

•

en:brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri

•

en:variable progression rate

•

en:carrier females are normal

•

en:prevalence of 1 in 1,429 in tanzania

•

en:paternal anticipation bias

•

en:patients have severe anemia requiring regular transfusions for normal activity

•

en:patients with contiguous gene deletion of 8q24 have more severe features

•

en:patients with meb have less severe features and longer survival

•

en:patient with truncating mutations are more likely to develop neurologic abnormalities

•

en:penetrance of 70 to 80% over a lifetime in heterozygous mutation carriers

•

en:persistent exposure to fructose leads to chronic liver and kidney complications

•

en:phenotype may be influenced by maternal alcohol consumption during pregnancy

•

en:phenotypic overlap with denys-drash syndrome (194080).

•

en:plantar contractures become apparent with onset of ambulation

•

en:prelingual onset in males

•

en:prevalence much higher in whites than blacks

•

en:prevalence of 1 in 240 zuni indians

•

en:pain is noted to feel cold

•

en:prevalence of homozygous c4a deficiency in sle 10-15x higher than general population

•

en:prevalent among the amish

•

en:prevalent in ashkenazi jews

•

en:progression more frequent in men than women

•

en:progressive disorder

•

en:progressive neurologic deterioration if untreated

•

en:rapidly progressive

•

en:rapidly progressive deterioration (in some patients)

•

en:recurrent cholestatic episodes in puberty, following surgery or severe trauma, and pregnancy

•

en:reduced exercise tolerance

•

en:pain most commonly affects the trunk, extremities, pelvic region, buttocks

•

en:onset usually in late adolescence or early adulthood (range 15 to 45 years)

•

en:see pkd1 (601313) due to mutation in polycystin 1 (601313), pkd2 (173910) due to mutation in polycystin 2 (173910), and pkd3 (600666)

•

en:onset in first weeks to months of life

•

en:only individuals homozygous for risk or non-risk alleles were studied

•

en:onset 0-12 hours after birth

•

en:onset 30-40 years of age

•

en:onset at 6-9 months

•

en:onset at birth or early childhood

•

en:onset before age 3 years

•

en:onset between 6 and 12 months of age

•

en:onset bimodal, ages 16-22 and ages 57-60

•

en:onset early in first decade

•

en:onset in 1st to 3rd decade of life

•

en:onset in childhood (mean age 10 years)

•

en:onset in first decades (males)

•

en:onset in first months or years of life

•

en:onset in infancy (3 to 7 months)

•

en:onset usually in infancy or early childhood (9 months to 6 years)

•

en:onset in infancy after normal birth and neonatal period

•

en:onset in infancy or early childhood (birth to 6 years)

•

en:onset in infancy up to 3 years

•

en:onset in late childhood or early teens

•

en:onset in second or third decades

•

en:onset in the fourth to sixth decades (mean 40 years)

•

en:onset in utero or early infancy

•

en:onset late childhood

•

en:onset may occur in adulthood

•

en:onset of disease around 10 years of age

•

en:onset of major clinical features in young adulthood

•

en:onset of visual loss in the first decade

•

en:onset precipitated by fasting or illness

•

en:segmental distribution often affecting 1 limb

•

en:only 10% develop hypertension at 18 years of age or less

•

en:usually affects children

•

en:two families described (last curated july 2013)

•

en:two families each with two affected children have been reported (last curated april 2015)

•

en:two japanese patients have been reported (last curated march 2013)

•

en:two main presentations

•

en:two patients from 1 italian family have been reported (as of april 2010)

•

en:two sisters have been reported (last curated september 2013)

•

en:two types - one with premature ovarian failure (bpes type 1) and one without pof (bpes type 2)

•

en:up to 50% of patients may have various additional congenital anomalies

•

en:variable age at onset, range from infancy to adulthood

•

en:three families have been reported (last curated november 2010)

•

en:variable age at onset (range birth to teenage years)

•

en:variable age at onset (range first to third decade)

•

en:variable age of onset (20 to 35 years old)

•

en:variable disease severity

•

en:variable frequency (daily to monthly)

•

en:variable severity (in patients with hsan2d)

•

en:variable severity of scaling and palmoplantar keratoderma

•

en:variable severity that correlates with rate and magnitude of neuronal protein accumulation

•

en:venous malformations previously referred to as angiomas or hemangiomas

•

en:very rare

•

en:vhl type 2c - pheochromocytoma only

•

en:wide variability in severity of limb defects

•

en:women are more often affected

•

en:three forms of cjd: acquired (including variant), sporadic, and inherited

•

en:three families have been reported (as of september 2011)

•

en:seizures usually remit spontaneously by 12 months of age

•

en:some patients have a milder nonprogressive phenotype

•

en:severe neurodegenerative course resulting in a comatose state or death

•

en:severe phenotype onset - neonate

•

en:six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016)

•

en:six patients have been reported (5/18/2011)

•

en:size of deletion varies from cytogenetically visible deletions to undetectable cytogenetic deletions

•

en:skin lesions are primarily trauma-induced but occasionally appear spontaneously

•

en:skin lesion appear shortly after birth and tend to disappear in young adulthood

•

en:slc25a4 mutations account for approximately 4% of all peo cases

•

en:slowly progressive moleculr basis : caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0003)

•

en:some female heterozygotes express phenotypic features (e.g., coarse facies, mild mental retardation)

•

en:some heterozygous cpt2 mutation carriers may be symptomatic

•

en:some patients do not develop renal failure

•

en:some patients experience later reversal of hypogonadotropic hypogonadism

•

en:some patients have only ocular involvement or only oral involvement

•

en:telangiectasia become evident between the second and eighth year of life

•

en:some patients never achieve walking or running

•

en:specific features may vary, but syndactyly and renal/anogenital malformations are cardinal features

•

en:spontaneous resorption (rare)

•

en:static, nonprogressive disorder

•

en:stillborn or death in infancy

•

en:sudden death due to cardiomyopathy

•

en:sudden death secondary to impaction of medulla oblongata

•

en:survival to 20 years in severe form

•

en:symptoms benefit from sleep

•

en:symptoms improve during the summer

•

en:symptoms improve with age, resulting in woolly hair with almost normal hair density

•

en:symptoms occur only during sleep

•

en:symptoms show insidious onset in the late first through third decades

•

en:only apparent in patients taking eculizumab

•

en:one patient has been reported (last curated may 2015)

•

en:carrier female phenotype ranges from normal bone density with no fractures to early-onset osteoporosis and fractures

•

en:genetic heterogeneity (see 610168)

•

en:features in typical patient include mental retardation, microcephaly, short stature, and lean body build

•

en:first fracture in early childhood

•

en:five patients have been reported (last curated december 2014)

•

en:four cases have been reported, all female

•

en:four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, 252900)

•

en:four patients of canadian cree origin and 1 patient of turkish origin have been reported (last curated november 2014)

•

en:fractures occur in first few months, then decrease in frequency and then occur with ambulation

•

en:fracture frequency constant through childhood, decreases after puberty

•

en:funduscopy before 2 years of age is unremarkable

•

en:genetic anticipation occurs

•

en:genetic heterogeneity, see (203300)

•

en:genetic heterogeneity, see mitochondrial inheritance of the disorder (500003)

•

en:genetic heterogeneity (see etl2, 608096)

•

en:favorable response to ephedrine treatment

•

en:genetic heterogeneity (see fhm1 141500 and mgr6 607516)

•

en:genetic heterogeneity (see psnp1 601104)

•

en:genetic heterogeneity (see sca1, 164000)

•

en:good response to clonazepam

•

en:good response to l-dopa initially

•

en:gradual progression

•

en:group b, found in france and united kingdom, severe phenotype

•

en:has also been called 'distal hereditary motor neuronopathy' (dhmn) and 'distal spinal muscular atrophy' (dsma)

•

en:hearing loss is congenital and nonprogressive

•

en:highly variable phenotype, ranging from asymptomatic to severe

•

en:high mortality in infancy and early childhood (in some patients)

•

en:hypothyroidism is less severe in individuals with high dietary iodine intake

•

en:incidence 1/20,000-1/64,000 male births

•

en:favorable response to treatment with riboflavin

•

en:fatigue

•

en:incidence of 1 in 5,000-8,000

•

en:death usually in childhood

•

en:childhood or young adult onset

•

en:clinically classified into classic, atypical, and intermediate phenotypes

•

en:clinical presentation varies

•

en:complementation groups - complementation group a (classic mliii, 252600)

•

en:complete penetrance

•

en:considered a normal variant

•

en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis

•

en:death by age 5 (infantile form)

•

en:death can occur in infancy

•

en:death due to respiratory failure or infection

•

en:death in infancy secondary to pulmonary insufficiency

•

en:death in infancy without bone marrow transplantation

•

en:death in the first decade, usually from liver failure

•

en:death usually in infancy due to respiratory failure

•

en:family b had a milder phenotype

•

en:death usually in the perinatal period

•

en:deletions in naip gene (600355) found in 18% of sma2 patients

•

en:dysarthria, dysphonia, or cough precede onset of ataxia

•

en:dysmorphic features are mild or variable

•

en:earliest age of onset 12 years of age

•

en:early death from respiratory failure may occur

•

en:early death may occur from cardiogenic shock preceded by arrhythmia

•

en:early death without kidney transplant

•

en:early onset patients are indistinguishable from those with carbamoyl phosphate synthetase i (cps1) deficiency (237300)

•

en:episodes triggered by fasting, illness, fever

•

en:episodic metabolic decompensation usually associated with illness

•

en:exacerbation of symptoms during or after pregnancy

•

en:familial form - constitutional deficiency of vwf-cleaving protease

•

en:incidence in japan is 1 in 57,000

•

en:incidence of 1 in 500,000 live births

•

en:one patient has been reported (as of sept 2011)

•

en:one brother and sister of micmac indian and french-canadian ancestry have been reported (last curated september 2014)

•

en:neuromuscular, cardiovascular, and infectious symptoms improve with age

•

en:non-progressive and more severe progressive forms

•

en:nonprogressive in most patients

•

en:normal ability to tolerate heat

•

en:normal neonatal blood phenylalanine has been reported in rare patients

•

en:not all patients have all features

•

en:not all patients have dysmorphic facial features

•

en:no clinical description given for 1 reported patient (last curated december 2013)

•

en:no consistent dysmorphic facial phenotype

•

en:no laterality defects

•

en:no skin abnormalities

•

en:occasional adult onset

•

en:often fatal due in infancy due to intractable diarrhea

•

en:one consanguineous israeli bedouin kindred has been reported (last curated february 2016)

•

en:neurologic features are variable and not progressive

•

en:one consanguineous turkish family has been reported (last curated july 2015)

•

en:one family and an unrelated patient have been reported (last curated january 2016)

•

en:one family has been described (last curated august 2015)

•

en:one family has been reported (as of august 2010)

•

en:one family has been reported (as of july 2011)

•

en:one family of mali origin has been reported (last curated january 2013)

•

en:one family with a proven mutation has been reported (last curated november 2015) molecular genetics : caused by mutation in the rna-binding motif protein, x chromosome gene (rbmx, 300199.0001)

•

en:one israeli arab family has been reported with ptprf mutation (last curated september 2014)

•

en:one japanese patient has been reported (last curated september 2014)

•

en:one large family has been reported (as of 2008)

•

en:one lebanese family has been reported

•

en:one patient has been reported (as of april 2011)

•

en:one patient has been reported (as of march 2011)

•

en:neurologic symptoms are not always present or may appear late

•

en:neonatal or infant death

•

en:incompletely penetrant phenotype in heterozygotes

•

en:majority of cases in manitoba indians, northeastern manitoba, canada

•

en:incomplete penetrance of the 3 main clinical signs, myopathy, dementia, and paget disease

•

en:increased frequency in finland

•

en:increased incidence in asian countries (e.g., 1.46 per 10,000 live births in taiwan)

•

en:infantile form usually leads to death by age 2 years

•

en:intrafamilial variability in nail changes

•

en:intrafamilial variability in severity

•

en:in general, men have more severe disease than women

•

en:late-adult onset (usually after age 50 years)

•

en:lesions may become more prominent with sun exposure

•

en:long duration

•

en:loss initially affects mid and high frequencies

•

en:lower limb involvement precedes upper limb involvement

•

en:macular degeneration only occurs in some patients at very late age (over 70)

•

en:may be present in asymptomatic adults

•

en:myotilinopathy (609200) is an allelic disorder with overlapping clinical features

•

en:may manifest as late-onset 'parkinsonian' phenotype without severe ataxic features

•

en:milder form with onset in childhood, absence seizures, and learning difficulties

•

en:mild cases show clinical, biochemical, and mri improvement after the second year of life

•

en:mortality approximately 20% in first 2 years

•

en:most cases do not have mutations in the mapt gene, but map to chromosome 17q

•

en:most cases result from de novo mutations

•

en:most common terminal deletion syndrome

•

en:most patients are female

•

en:most patients become wheelchair-bound in adolescence or as young adults

•

en:most severe type of von willebrand disease

•

en:mother had rubella infection during pregnancy with daughter

•

en:multiple mitochondrial dna deletions are found in autosomal dominant pedigrees

•

en:myoclonus occurs at rest and with action

•

en:high frequency of absence seizures (several per day)

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6943967 • caches: c1=46 c2=2320 c3=2

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