ODCs

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1 OMIM reference -
2 associated genes
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 associated gene
12 signs/symptoms

Apolipoprotein A-I deficiency

Familial partial lipodystrophy due to AKT2 mutations

ABCA1	(UniProt - OMIM)		AKT2	(UniProt - OMIM)
APOA1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	APOA1	(0.63)	AKT2

Citations in the biomedical literature:

Apolipoprotein A-I deficiency		Familial partial lipodystrophy due to AKT2 mutations
	Synonym(s): - ApoA-I deficiency - Familial apoA-I deficiency - Familial hypoalphalipoproteinemia		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: any age Type of inheritance: autosomal dominant		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: D052456		External references: No OMIM references No MeSH references


COMMON SIGNS	- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia

Apolipoprotein A-I deficiency		Familial partial lipodystrophy due to AKT2 mutations
	Frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Anaemia - Autosomal recessive inheritance - Hemiplegia / diplegia / hemiparesia / limb palsy - Hepatitis / icterus / cholestasis - Lymphadenopathy / polyadenopathies - Splenomegaly - Storage liver disease		Very frequent - Abnormal fat distribution / lipodystrophy - Autosomal dominant inheritance - Chronic arterial hypertension - 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