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1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Familial partial lipodystrophy due to AKT2 mutations
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

AKT2 APP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AKT2
(0.78)
APP



Citations in the biomedical literature:


Familial partial lipodystrophy due to AKT2 mutations
AKT2
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
APP



Familial partial lipodystrophy due to AKT2 mutations
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Piedmont type

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
(no data available)

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


COMMON
SIGNS
- Autosomal dominant inheritance


Familial partial lipodystrophy due to AKT2 mutations
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type

Very frequent
- Abnormal fat distribution / lipodystrophy
- 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


Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral / meningeal hemorrhage
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / psychomotor regression / dementia / intellectual decline
- Sensitive trouble / deficit
- Transient cerebral ischemia / stroke

Frequent
- Cerebral vascular anomalies
- Facial pain / cephalalgia / migraine
- Psychic / behavioural troubles

Occasional
- Early death / lethality