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Wolfram syndrome
4 OMIM references -
2 associated genes
36 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Familial partial lipodystrophy, Köbberling type
1 OMIM reference -
1 associated gene
15 signs/symptoms
Wolfram syndrome
Familial partial lipodystrophy, Köbberling type

CISD2
(UniProt - OMIM)
 LMNA
(UniProt - OMIM)
WFS1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CISD2
(0.49)
LMNA


Citations in the biomedical literature:


Wolfram syndrome
CISD2 WFS1
Familial partial lipodystrophy, Köbberling type
LMNA



Wolfram syndrome
Familial partial lipodystrophy, Köbberling type

Synonym(s):
- DIDMOAD syndrome
- Diabetes insipidus - diabetes mellitus - optic atrophy - deafness
Synonym(s):
- FPLD1
- Familial partial lipodystrophy type 1
Classification (Orphanet):
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
1 MeSH reference: D014929
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Autosomal dominant inheritance
- Diabetes mellitus

Wolfram syndrome
Familial partial lipodystrophy, Köbberling type

Very frequent
- Autosomal recessive inheritance
- Diabetes insipidus
- 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
- 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


Very frequent
- Abnormal fat distribution / lipodystrophy
- Chronic arterial hypertension
- Hyperinsulinism / hyperinsulinemia
- Insulin resistance
- Insulin-dependent / type 1 diabetes
- Lipoatrophy

Frequent
- Abnormal / polycystic ovaries
- Acanthosis nigricans
- Hepatomegaly / liver enlargement (excluding storage disease)
- Liver / hepatic steatosis
- Xanthomas / lipomas

Occasional
- Angor pectoris / myocardial infarction
- Pancreatitis