ODCs

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5 OMIM references -
5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Congenital muscular dystrophy with intellectual disability

Familial partial lipodystrophy, KÃ¶bberling type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GMPPB	(0.63)	LMNA

Citations in the biomedical literature:

Congenital muscular dystrophy with intellectual disability		Familial partial lipodystrophy, KÃ¶bberling type
	Synonym(s): - CMD with intellectual disability - CMD-MR		Synonym(s): - FPLD1 - Familial partial lipodystrophy type 1

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		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: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Familial partial lipodystrophy, KÃ¶bberling type
	Very frequent - Abnormal fat distribution / lipodystrophy - Autosomal dominant inheritance - Chronic arterial hypertension - Diabetes mellitus - 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
Congenital muscular dystrophy with intellectual disability
(no data available)