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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C4230291

Associations d'idées

[F]

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50+

en:worldwide incidence of 1 in 185,000 live births

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

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en:symptoms usually occur in adults

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en:some patients require cardiac transplantation

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en:severe epilepsy may lead to early death

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en:prevalent among european, particularly spanish, gypsies (r1109x, 608206.0006)

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en:patients may have head and neck paragangliomas only, adrenal or extraadrenal pheochromocytomas only, or both

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en:parental somatic mosaicism in 2 cases produced mild phenotype in the patients

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en:onset in females ranges from third to seventh decade

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

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

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en:not all patients have skeletal muscle symptoms or mental retardation

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en:most common form of childhood idiopathic epilepsy

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en:most cases are de novo occurrences, but rare autosomal dominant inheritance has been reported

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en:may be seen in combination with duchenne muscular dystrophy (dmd, 310200) and/or glycerol kinase deficiency (307030) as part of a contiguous gene deletion syndrome

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en:increased frequency in the state of bahia, brazil

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en:variable severity (mild symptoms to severe handicap)

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en:increased frequency in finland (prevalence of 1 in 20,000)

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en:incidence of 1 in 20,000 live births

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en:high incidence in saguenay-lac st. jean region of the province of quebec, canada and northern europe

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en:heterozygotes are not affected

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en:genetic heterogeneity (see 606215)

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en:feeding difficulties, including aspiration, ameliorate with age

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en:death in infancy (1 patient)

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en:carrier females are normal

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en:benign condition

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en:anticonvulsants are effective one family of thai origin has been reported (last curated march 2013)

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en:age at onset 15 to 33 years

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en:affected males have serotonin-related disorders such as migraine headaches and diabetes

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

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en:systemic granulomatous disease

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en:mean age at onset 15.2 years

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en:adult onset (range 28 to 55 years)

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en:onset 6 months to 2.5 years

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en:alopecia may spontaneously regress, become chronic, or spread diffusely

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en:two unrelated consanguineous families have been reported (last curated march 2015)

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en:two siblings of consanguineous turkish parents have been reported

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

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en:three unrelated families have been reported (last curated august 2015)

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en:sparing of some nails in some individuals

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en:some patients born in consanguineous families may carry homozygous mutations, but the phenotype does not appear to be more severe

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en:see also autosomal form, 146450, and another x-linked form, 300633

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en:see also autosomal dominant robinow syndrome (180700)

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en:recurrent bacterial, viral, and fungal infections

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en:phenotypic variability has been described, with some patients exhibiting partial and others complete hypogonadotropic hypogonadism

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en:perinatal lethality

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en:onset of symptoms 2-4 weeks of age

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en:two unrelated families and 1 isolated patient have been reported (last curated june 2012)

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en:manifestations present in second decade of life

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en:early-onset associated with more severe course and early death

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Génériques

[F] [H]

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en:age ▷?

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9090478 • caches: c1=16 c2=149 c3=215

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