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1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
14 OMIM references -
13 associated genes
No signs/symptoms info
Familial partial lipodystrophy due to AKT2 mutations
Young adult-onset Parkinsonism

AKT2 EIF4G1
GBA
GIGYF2
HTRA2
LRRK2
NR4A2
PACRG
PARK2
PARK7
PINK1
SNCA
UCHL1
VPS35


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AKT2
(0.63)
LRRK2



Citations in the biomedical literature:


Familial partial lipodystrophy due to AKT2 mutations
AKT2
Young adult-onset Parkinsonism
EIF4G1 GBA GIGYF2 HTRA2 LRRK2 NR4A2
PACRG PARK2 PARK7 PINK1 SNCA UCHL1
VPS35



Familial partial lipodystrophy due to AKT2 mutations
Young adult-onset Parkinsonism

Synonym(s):
(no synonyms)

Synonym(s):
- Early-onset Parkinson disease
- Familial Parkinson disease
- Hereditary Parkinson disease
- Young-onset Parkinson disease

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

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: 1-5 / 10 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
14 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


Young adult-onset Parkinsonism

(no data available)