ODCs

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1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

3 OMIM references -
4 associated genes
16 signs/symptoms

Partial androgen insensitivity syndrome

46,XX gonadal dysgenesis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AR AR	(0.67) (0.52)	PSMC3IP NR5A1

Citations in the biomedical literature:

Partial androgen insensitivity syndrome		46,XX gonadal dysgenesis
	Synonym(s): - PAIS - Partial androgen resistance syndrome		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 developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital 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: unknown Average age onset: variable Average age of death: normal Type of inheritance: x-linked recessive		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: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: D023961


COMMON SIGNS	- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Sterility / hypofertility

Partial androgen insensitivity syndrome		46,XX gonadal dysgenesis
	Very frequent - Bifid scrotum - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Uterine / uterus / Fallopian tubes anomalies Frequent - Female pseudohermaphrodism / virilisation / clitoridomegaly - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) Occasional - Gynecomastia / breast / mammary gland enlargement / hyperplasia		Very frequent - Abnormal / polycystic ovaries - Autosomal dominant inheritance - Late puberty / hypogonadism / hypogenitalism - Primary amenorrhea 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