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1 associated gene
12 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
3 OMIM references -
4 associated genes
16 signs/symptoms
Familial partial lipodystrophy due to AKT2 mutations
46,XX gonadal dysgenesis

AKT2 BMP15
FSHR
NR5A1
PSMC3IP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AKT2
(0.65)
FSHR



Citations in the biomedical literature:


Familial partial lipodystrophy due to AKT2 mutations
AKT2
46,XX gonadal dysgenesis
BMP15 FSHR NR5A1 PSMC3IP



Familial partial lipodystrophy due to AKT2 mutations
46,XX gonadal dysgenesis

Synonym(s):
(no synonyms)

Synonym(s):
- 46,XX complete gonadal dysgenesis
- 46,XX ovarian dysgenesis
- 46,XX pure gonadal dysgenesis
- FSH-RO
- Follicular stimulating hormone-resistant ovaries
- Hypergonadotropic ovarian dysgenesis
- XX female gonadal dysgenesis
- XX-GD

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D023961


COMMON
SIGNS
- Abnormal / polycystic ovaries
- Autosomal dominant inheritance


Familial partial lipodystrophy due to AKT2 mutations
46,XX gonadal dysgenesis

Very frequent
- Abnormal fat distribution / lipodystrophy
- Chronic arterial hypertension
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin resistance
- Insulin-dependent / type 1 diabetes

Frequent
- Acanthosis nigricans
- Liver / hepatic steatosis

Occasional
- Angor pectoris / myocardial infarction
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Heart / cardiac failure


Very frequent
- Late puberty / hypogonadism / hypogenitalism
- Primary amenorrhea
- Sterility / hypofertility

Frequent
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Hearing loss / hypoacusia / deafness
- Long hand / arachnodactyly
- Lung fibrosis
- Metabolic anomalies
- Microcephaly
- Precocious menopause / secondary amenorrhea
- Short stature / dwarfism / nanism
- X-linked recessive inheritance