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1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Familial partial lipodystrophy due to AKT2 mutations
X-linked lymphoproliferative disease

AKT2 SH2D1A
XIAP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AKT2
(0.58)
XIAP



Citations in the biomedical literature:


Familial partial lipodystrophy due to AKT2 mutations
AKT2
X-linked lymphoproliferative disease
SH2D1A XIAP



Familial partial lipodystrophy due to AKT2 mutations
X-linked lymphoproliferative disease

Synonym(s):
(no synonyms)

Synonym(s):
- Duncan disease
- Purtilo syndrome
- XLP

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: childhood
Average age of death: -
Type of inheritance: x-linked recessive

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D008232

Familial partial lipodystrophy due to AKT2 mutations
X-linked lymphoproliferative disease

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
- T-cell deficiency / cellular immunity deficiency
- X-linked recessive inheritance

Frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lymphadenopathy / polyadenopathies
- Lymphoma
- Splenomegaly

Occasional
- Anaemia