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Partial androgen insensitivity syndrome

1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1

45,X/46,XY mixed gonadal dysgenesis

2 associated genes
No signs/symptoms info

Partial androgen insensitivity syndrome

45,X/46,XY mixed gonadal dysgenesis

AR	(UniProt - OMIM)		SRY	(UniProt - OMIM)
			TSPY1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AR	(0.87)	SRY

Citations in the biomedical literature:

Partial androgen insensitivity syndrome		45,X/46,XY mixed gonadal dysgenesis
	Synonym(s): - PAIS - Partial androgen resistance syndrome		Synonym(s): - 45,X/46,XY MGD - 45,X0/46,XY MGD - 45,X0/46,XY mixed gonadal dysgenesis

	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: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: sporadic

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

Partial androgen insensitivity syndrome
	Very frequent - Bifid scrotum - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Sterility / hypofertility - 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 - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
45,X/46,XY mixed gonadal dysgenesis
(no data available)