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13 OMIM references -
10 associated genes
No signs/symptoms info
COMMON GENES: 1
4 OMIM references -
2 associated genes
36 signs/symptoms
Nuclear cataract
Wolfram syndrome

CRYAA CISD2
CRYBB1 WFS1
CRYBB2
CRYBB3
CRYGD
FYCO1
GJA3
MIP
NHS
WFS1


COMMON
GENES
WFS1



Citations in the biomedical literature:


Nuclear cataract
CRYAA CRYBB1 CRYBB2 CRYBB3 CRYGD FYCO1
GJA3 MIP NHS WFS1
Wolfram syndrome
CISD2



Nuclear cataract
Wolfram syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- DIDMOAD syndrome
- Diabetes insipidus - diabetes mellitus - optic atrophy - deafness

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive

External references:
13 OMIM references -
No MeSH references
External references:
4 OMIM references -
1 MeSH reference: D014929

Wolfram syndrome

Very frequent
- Autosomal recessive inheritance
- Diabetes insipidus
- Diabetes mellitus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Sensorineural deafness / hearing loss

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Bladder and ureter anomalies
- Elocution disorders / dysarthria / dysphonia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Nystagmus
- Psychic / behavioural troubles
- Recurrent urinary infections
- Renal disease / nephropathy
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Anaemia
- Autosomal dominant inheritance
- Cardiomyopathy / hypertrophic / dilated
- Constipation
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Delirium / hallucination
- Dysautonomia / autonomous nervous sytem anomalies
- Early death / lethality
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Glaucoma
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Malabsorption / chronic diarrhea / steatorrhea
- Myopathy
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Peripheral neuropathy
- Psychic / psychomotor regression / dementia / intellectual decline
- Psychosis / schizophrenia / maniac disorder
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Sleep and vigilance disorders


Nuclear cataract

(no data available)