Diko : en:onset of night blindness varies among patients from early childhood to mid thirties

Le Diko - en:onset of night blindness varies among patients from early childhood to mid thirties

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en:onset of night blindness varies among patients from early childhood to mid thirties

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C4230768

Associations d'idées

[F]

›

50+

en:variable locations

•

en:major fetal plasma protein produced by yolk sac and liver

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en:some patients require cardiac transplantation

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en:some patients may have a more protracted disorder with neurodegeneration

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en:some patients do not show neurologic abnormalities or dysmorphic features

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en:somatic mutations occur in adrenal tumor tissue (601639.0001)

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en:seizures are refractory to medication

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en:recurrent bacterial infection

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en:prevalent among patients of asian descent, particularly japanese

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en:presenting symptoms in the upper body

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en:penetrance is usually complete by age 65 years

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

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en:onset of gaze palsy at birth

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en:onset in late childhood (after age 10 years)

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en:one pakistani reported (last curated november 2012)

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en:heterozygous mutation carriers show toxicity to 5-fluorouracil (5fu)

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en:variable age of onset (infancy to 63 years)

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en:hair, nails, and teeth are normal

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en:four patients have been reported (as of july 2011)

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en:death may occur in early infancy

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en:death in childhood

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en:chromosomal hypersensitivity to ionizing radiation and alkylating agents

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

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en:allelic to kid syndrome (148210), dfna3 (601544), dfnb1 (220290), vohwinkel syndrome (124500), keratoderma, palmoplantar with deafness (148350)

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en:allelic disorder to nf1

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en:allelic disorder to adult polyglucosan body disease (263570)

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en:age at onset 15 to 33 years

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en:abnormal sensitivity to therapeutic radiation

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en:service comment 26:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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

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en:usually occurs in young adults

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en:onset of symptoms in third to sixth decade of life

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en:(1) classic severe (onset of symptoms 4 to 7 days of age)

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en:one family with confirmed genetic basis has been reported (last curated september 2013)

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en:treatment with hematopoietic stem cell transplant if diagnosed at < 24 months of age

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en:aggravated by physical activity

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en:some patients report cyclical changes in severity of symptoms

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en:some patients are asymptomatic and detected only by newborn screening

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en:rarely reported in infants

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en:rapidly progressive (6-24 months)

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en:pigmented spots appear in infancy through childhood and fade in adulthood

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en:patients present at birth with respiratory distress or poor head control

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en:onset in females ranges from third to seventh decade

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en:onset around age 2 years

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en:onset 7 to 15 months of age

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en:one patient reported with col3a1 mutation (120180.0020)

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en:symptoms precipitated by sudden movement, stress, exertion, fatigue

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en:occurs on right side in 75% of cases

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en:evidence of incomplete penetrance in one family

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Génériques

[F] [H]

›

en:onset ▷?

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9091567 • caches: c1=114 c2=1483 c3=320

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