ODCs

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Wolfram syndrome

4 OMIM references -
2 associated genes
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Mandibuloacral dysplasia with type A lipodystrophy

1 OMIM reference -
1 associated gene
28 signs/symptoms

Wolfram syndrome

Mandibuloacral dysplasia with type A lipodystrophy

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		Mandibuloacral dysplasia with type A lipodystrophy
	Synonym(s): - DIDMOAD syndrome - Diabetes insipidus - diabetes mellitus - optic atrophy - deafness		Synonym(s): (no synonyms)

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

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

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 4 OMIM references - 1 MeSH reference: D014929		External references: 1 OMIM reference - 1 MeSH reference: C535705


COMMON SIGNS	- Autosomal recessive inheritance - Restricted joint mobility / joint stiffness / ankylosis

Wolfram syndrome		Mandibuloacral dysplasia with type A lipodystrophy
	Very frequent - 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 - Sleep and vigilance disorders		Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Alopecia - Clavicle absent / abnormal - Large fontanelle / delayed fontanelle closure - Osteolysis / osteoclasia / bone destruction / erosions - Premature ageing - Short stature / dwarfism / nanism - Skin hypoplasia / aplasia / atrophy - Terminal / third phalangeal bone of fingers hypoplasia - Wormian bones Frequent - Eyebrows anomalies - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Proptosis / exophthalmos Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Anomalies of cartilages, joints and periarticular tissue - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Articular / joint pain / arthralgia - Breast tissue / mammary gland absence / aplasia - Cataract / lens opacification - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Hypotonia - Muscle anomalies - Tight skin / lack of elasticity