Diko : en:based on a report of 2 unrelated saudi patients (last curated september 2015)

en:based on a report of 2 unrelated saudi patients (last curated september 2015)

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

Liens externes

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umls:C4228366

Associations d'idées

[F]

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50+

patients ▷

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patient ▷

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

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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:age of onset/diagnosis 12-35 years

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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:clinical and biochemical abnormalities disappear with age

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en:congenital onset

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en:death in perinatal period

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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:mean age at onset of hypoglycemia may be delayed (median, 9 months, diagnosis sometimes made in adulthood)

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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:may occur in adults (also in pregnancy)

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en:approximately 50% of patients have situs inversus

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

▶

‹

50+

en:fatal before age 2 years

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en:increased sensitivity to valproic acid toxicity

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en:no consistent dysmorphic facial phenotype

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en:liver size returns to normal after 3 months to 3 years

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en:incomplete penetrance (50%)

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en:incidence of 1 in 120,000 live births

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en:immunologic defects are variable

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en:levodopa-induced dyskinesias

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en:majority die in neonatal period secondary to respiratory insufficiency

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en:one family and 2 unrelated patients have been reported (last curated december 2015)

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

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en:incidence 1 in 30,000 male births

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en:many patients become wheelchair-bound

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rétinite pigmentaire d'apparition tardive

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en:autoimmune features are variable

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

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en:incidence of 1 in 3,500 boys

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létal

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

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en:early death due to sepsis

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en:hypersensitivity to ionizing radiation

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en:based on report of 2 sibs in 2008

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en:late-adult onset

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

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en:allelic disorder to early-onset sarcoidosis (609464)

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en:allelic to hypoparathyroidism-retardation-dysmorphism syndrome (241410)

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en:highly variable phenotype, even within families

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en:lethal in males

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en:surviving males are postzygotic mosaic for ebp mutations

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en:distinct from pseudopili annulati (613241)

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en:lifetime risk of breast cancer in mutation carriers is 60 to 85%

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en:lethal

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en:onset in first decade (as early as infancy in some)

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en:earlier onset is associated with a more severe disorder

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en:incomplete penetrance in some families

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

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en:highly penetrant, but low morbidity

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en:juvenile rigid early-onset form more often paternally inherited

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en:lesions apparent at birth

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en:lifelong occurrence

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en:joint laxity decreases with age

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en:lethal in utero or perinatal lethal

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en:gradual progression

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en:incidence of 1 in 100,000 births

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

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en:full recovery after attacks

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en:incidence 1-1.5/1,000 live births

▶

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9088433 • caches: c1=22 c2=142 c3=564

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