ODCs

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Wolfram syndrome

4 OMIM references -
2 associated genes
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Familial partial lipodystrophy, Dunnigan type

1 OMIM reference -
1 associated gene
36 signs/symptoms

Wolfram syndrome

Familial partial lipodystrophy, Dunnigan 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		Familial partial lipodystrophy, Dunnigan type
	Synonym(s): - DIDMOAD syndrome - Diabetes insipidus - diabetes mellitus - optic atrophy - deafness		Synonym(s): - Dunnigan syndrome - FPLD2 - Familial partial lipodystrophy type 2

	Classification (Orphanet): - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: unknown Average age onset: childhood 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 - Cardiomyopathy / hypertrophic / dilated - Diabetes mellitus - Myopathy

Wolfram syndrome		Familial partial lipodystrophy, Dunnigan 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 - 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 - 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 - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Lipoatrophy - Muscle hypertrophy - Round face - Skin hypoplasia / aplasia / atrophy - Xanthomas / lipomas Frequent - Anomalies of skin, subcutaneous tissue and mucosae - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Nails anomalies - Precocious menopause / secondary amenorrhea - Premature eruption of teeth / natal teeth - Thin skin Occasional - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Abnormal / polycystic ovaries - Acanthosis nigricans - Angor pectoris / myocardial infarction - Anomalies of complement - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Cranial nerves palsy - Heart / cardiac failure - Hirsutism / hypertrichosis / Increased body hair - Liver / hepatic steatosis - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Myalgia / muscular pain - Pancreatitis - Renal glomerular defect / glomerulopathy - Splenomegaly - Storage liver disease