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Wolfram syndrome
4 OMIM references -
2 associated genes
43 connected diseases
36 signs/symptoms
Disease Type of connection
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Nuclear cataract
Congenital bilateral absence of vas deferens
Cystic fibrosis
Follicular lymphoma
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Intravascular large B-cell lymphoma
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Male infertility with normal virilization due to meiosis defect
Pediatric systemic lupus erythematosus
Short stature due to growth hormone qualitative anomaly
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Synonym(s):
- DIDMOAD syndrome
- Diabetes insipidus - diabetes mellitus - optic atrophy - deafness
Classification (Orphanet):
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
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:
4 OMIM references -
1 MeSH reference: D014929
Gene symbol UniProt reference OMIM reference
CISD2 Q8N5K1611507
WFS1 O76024606201
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