ODCs

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3 OMIM references -
4 associated genes
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 associated gene
12 signs/symptoms

46,XX gonadal dysgenesis

Familial partial lipodystrophy due to AKT2 mutations


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

Citations in the biomedical literature:

46,XX gonadal dysgenesis		Familial partial lipodystrophy due to AKT2 mutations
	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		Synonym(s): (no synonyms)

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: unknown

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


COMMON SIGNS	- Abnormal / polycystic ovaries - Autosomal dominant inheritance

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