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1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Familial partial lipodystrophy due to AKT2 mutations
Hereditary cerebral hemorrhage with amyloidosis, Dutch 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, Dutch type
APP



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

Synonym(s):
(no synonyms)

Synonym(s):
- HCHWA, Dutch type
- HCHWA-D

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:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537944 / D028243

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

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


Very frequent
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline

Frequent
- Intracranial / cerebral calcifications
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke

Occasional
- Early death / lethality