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1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
No signs/symptoms info
Familial partial lipodystrophy due to AKT2 mutations
Sitosterolemia

AKT2 ABCG5
ABCG8


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Familial partial lipodystrophy due to AKT2 mutations
AKT2
Sitosterolemia
ABCG5 ABCG8



Familial partial lipodystrophy due to AKT2 mutations
Sitosterolemia

Synonym(s):
(no synonyms)

Synonym(s):
- Phytosterolemia
- Xanthomatosis with sisterolemia

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic 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: adulthood
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive

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

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)