ODCs

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Autosomal dominant limb-girdle muscular dystrophy type 1B

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Wolfram syndrome

4 OMIM references -
2 associated genes
36 signs/symptoms

Autosomal dominant limb-girdle muscular dystrophy type 1B

Wolfram syndrome

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


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

Citations in the biomedical literature:

Autosomal dominant limb-girdle muscular dystrophy type 1B		Wolfram syndrome
	Synonym(s): - LGMD1B - Limb-girdle muscular dystrophy due to lamin A/C deficiency		Synonym(s): - DIDMOAD syndrome - Diabetes insipidus - diabetes mellitus - optic atrophy - deafness

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare endocrine disease - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Diseases of the nervous system -		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: - 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: 1 OMIM reference - 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
Autosomal dominant limb-girdle muscular dystrophy type 1B
(no data available)