ODCs

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1 OMIM reference -
1 associated gene
1 sign/symptom

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
15 signs/symptoms

Autosomal recessive ataxia, Beauce type

Familial partial lipodystrophy, KÃ¶bberling type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SYNE1	(0.88)	LMNA

Citations in the biomedical literature:

Autosomal recessive ataxia, Beauce type		Familial partial lipodystrophy, KÃ¶bberling type
	Synonym(s): - ARCA1 - Autosomal recessive cerebellar ataxia type 1 - SCAR8		Synonym(s): - FPLD1 - Familial partial lipodystrophy type 1

	Classification (Orphanet): - 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: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: no data available 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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Autosomal recessive ataxia, Beauce type		Familial partial lipodystrophy, KÃ¶bberling type
	Very frequent - Ataxia / incoordination / trouble of the equilibrium		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