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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

Liens externes

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umls:C4229146

Associations d'idées

[F]

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50+

en:one ▷?

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en:age of onset/diagnosis 12-35 years

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en:caused by inheritance of the mutation on the paternal allele (imprinting)

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en:autosomal recessive inheritance with earlier onset has been reported in 3 patients

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en:death in majority of infants soon after birth

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en:approximately 70-80% of cases are de novo and sporadic

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en:coloboma is associated with larger microdeletion (490kb) of 11q13

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en:childhood onset

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en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty

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en:death from pneumonia

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en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood

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en:childhood or adolescent onset (usually less than 25 years)

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en:boys are more often affected than girls (3:2)

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en:average age at diagnosis 17.8 years (range 2-35 years)

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en:death before age 40

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en:clinical and biochemical abnormalities disappear with age

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en:both autosomal dominant and autosomal recessive inheritance has been described

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en:death in third or fourth decades, usually due to respiratory infection

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en:diarrhea worsens in parallel with increases in severity of skin disease

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en:discordant phenotype among monozygotic twins has been reported

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en:dwarfism not detectable at birth

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en:color vision defects may not be part of the phenotype

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en:associated with hemodialysis

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en:clinical presentation varies from asymptomatic to fulminant course

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en:death in infancy secondary to respiratory insufficiency/pneumonia

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en:death may occur in infancy

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en:death in infancy in 2 patients

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en:deafness tends to occur before other neurologic signs, except in patients with very early onset

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

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

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en:death in perinatal period

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

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en:may occur in adults (also in pregnancy)

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

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en:adult onset has been reported

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en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)

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en:all features are unilateral

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en:associated with increased frequency of autoimmune diseases

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en:associated with smoking

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en:adult onset (20 to 50 years)

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en:anemia is responsive to corticosteroid treatment

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en:a milder form has also been reported

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en:autosomal recessive form (277720) has also been described

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en:autosomal recessive disorder tends to be more severe

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en:may be triggered by minor head trauma

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en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

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en:age at onset from 3 to 51 years (mean 19.2 years)

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en:congenital onset

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en:all cases sporadic (18 males, 7 females)

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en:attacks more common in women

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50+

en:late-adult onset has been reported

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en:hepatomegaly improves with age and disappears around puberty

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en:infantile onset with hepatic involvement

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en:males are most severely affected, but females can also be affected

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en:distinct from pseudopili annulati (613241)

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

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en:median onset of neurologic symptoms is 13 years (range 5 to 28)

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en:median survival is > 50 years

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en:childhood onset

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en:liveborn often die within first week of life

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en:juvenile onset 4 years to puberty

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en:lack of treatment results in early death

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en:may show good response to levodopa

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en:mean age at onset 35 years (range 20-60)

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rétinite pigmentaire d'apparition tardive

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en:osteoglophonic, derived from greek meaning hollowed out

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létal

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en:incidence of 1 in 120,000 live births

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en:may have seasonal variance in severity

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en:mean age at onset of dementia is 57 years

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en:icelandic families

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

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en:improvement with age

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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:length of attack, 3 to 7 days

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en:age of onset between 5 and 10 years of age

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en:approximately 70-80% of cases are de novo and sporadic

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en:female carriers may have asymptomatic hypercalciuria or hypophosphatemia only

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

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en:fractures and dental caries and premature secondary tooth loss occur in adulthood

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en:mean age at onset 15.2 years

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en:mean age at onset 57-60 years

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en:infections may precipitate ketotic episodes

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en:majority of cases have been sporadic

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en:age at diagnosis 24 +/- 18 years for dominant disease

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en:late-adult onset

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en:attacks more common in women

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en:earlier onset is associated with a more severe disorder

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en:lethal

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en:left side involvement more frequent than right side involvement

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en:left sided involvement occurs more frequently

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en:incomplete penetrance with 45 to 51 repeats

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en:later onset (late childhood to young adult) has been reported

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en:in the absence of hydrops, death occurs within 3 months

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en:high frequency of levodopa-induced dyskinesias

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

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en:independent ambulation is maintained

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en:intermediate expression in females

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en:homozygotes have more severe disease with earlier onset of thrombosis

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Génériques

[F] [H]

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en:one ▷?

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9090802 • caches: c1=164 c2=1178 c3=4746

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