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1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Familial partial lipodystrophy due to AKT2 mutations

1 associated gene
12 signs/symptoms

Sitosterolemia

Familial partial lipodystrophy due to AKT2 mutations

ABCG5	(UniProt - OMIM)		AKT2	(UniProt - OMIM)
ABCG8	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ABCG8	(0.63)	AKT2

Citations in the biomedical literature:

Sitosterolemia		Familial partial lipodystrophy due to AKT2 mutations
	Synonym(s): - Phytosterolemia - Xanthomatosis with sisterolemia		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: unknown

	External references: 1 OMIM reference - 1 MeSH reference: C537345		External references: No OMIM references No MeSH references

Familial partial lipodystrophy due to AKT2 mutations
	Very frequent - Abnormal fat distribution / lipodystrophy - Autosomal dominant inheritance - Chronic arterial hypertension - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Insulin-dependent / type 1 diabetes Frequent - Abnormal / polycystic ovaries - Acanthosis nigricans - Liver / hepatic steatosis Occasional - Angor pectoris / myocardial infarction - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Heart / cardiac failure
Sitosterolemia
(no data available)