Diko : en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd

en:patients with homozygous mutations display mild palmoplantar keratoderma and woolly hair in addition to arvd

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C3552315

Associations d'idées

[F]

›

50+

anomalie congénitale

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en:variable age of onset (range 4 months to 45 years)

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en:possible x-linked dominant inheritance

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en:variable age at onset (late childhood to adult)

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en:congenital abnormality

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en:syncope

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en:recurrent bacterial infection

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en:six patients have been reported (as of october 2011)

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en:some patients may present with myopathic features

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en:some patients have resolution of symptoms in first year of life

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en:prevalent among the amish

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en:short survival (less than 10 years after onset)

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en:phenotypic variation (may affect language expression, reception, and/or articulation)

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en:some patients may not present until adulthood

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en:precipitated by fever

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en:virtually all patients with this condition are female

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en:usually symptomatic in adulthood with history of weakness since infancy or childhood

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en:visual impairment is present at birth and is progressive

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en:some patients with advanced loss of vision have normal eog

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en:small placenta

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en:variable age at onset, first to second decades

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en:skeletal and facial features are variable

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en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation

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en:symptoms precipitated by stress, exertion, fatigue, alcohol

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en:severe ambulatory restriction

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mutation

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en:arthralgia

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en:multiple prenatal fractures

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en:prelingual onset

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en:premature aging syndrome

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patients

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mutations

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en:subset of patients have leigh syndrome (256000)

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en:precipitated by general anesthesia

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en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia

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en:some patients show a favorable response to sulfonylurea treatment

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en:some patients may lose independent ambulation

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en:slight male predominance (3:2)

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en:some patients may show a favorable response to oral coenzyme q10 supplementation

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en:variable phenotype, particularly with regard to cortical malformations

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en:precipitated by fatigue or alcohol

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en:sensorineural hearing loss may be presenting feature

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en:presence of additional features is variable

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en:prevalence estimated at 1 in 50,000

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en:variable expression

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en:progressive clinical course with onset in childhood

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en:some patients show improvement during summer or with fever

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en:sudden death within first days of life

▶

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50+

anomalie congénitale

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en:congenital abnormality

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malformation congénitale

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en:congenital anomaly

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en:congenital defect

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déformation congénitale

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déficience congénitale

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difformité congénitale

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maladie congénitale

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pathologie congénitale

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mort du nouveau-né

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septicémie du nouveau-né

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mort néonatale

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septicémie néonatale

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en:neonatal death

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en:neonatal sepsis

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douleur dans une articulation

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en:arthralgia

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algie articulaire

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arthralgie

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douleur articulaire

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en:congenital malformation

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en:birth defect

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polyhydramnios

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en:polyhydramnios

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en:joint pain

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tare congénitale

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en:broad-based gait

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élargissement du polygone de sustentation

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vice de conformation

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en:wide-based gait

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en:teratosis

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en:physical defect

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en:stokes-adams syndrome

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en:heterozygotes exhibit blue sclerae and soft velvety skin

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

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

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en:some patients with advanced loss of vision have normal eog

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en:highly variable phenotype, even within families

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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:all reported mutations have occurred de novo

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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:late-adult onset has been reported

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rétinite pigmentaire d'apparition tardive

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anomalie du développement

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en:episodes brought on by fasting or infection

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présentation du siège

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en:major physical defect

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en:majority of cases are male

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en:episodes occur 30 minutes to 3 hours after exposure to cold

▶

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7466881 • caches: c1=34 c2=296 c3=775

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