ODCs

Click node...

1 OMIM reference -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

1 OMIM reference -
1 associated gene
9 signs/symptoms

46,XX ovotesticular disorder of sex development

Partial androgen insensitivity syndrome

SOX9	(UniProt - OMIM)		AR	(UniProt - OMIM)
SRY	(UniProt - OMIM)


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

Citations in the biomedical literature:

46,XX ovotesticular disorder of sex development		Partial androgen insensitivity syndrome
	Synonym(s): - 46,XX ovotesticular DSD - True hermaphroditism		Synonym(s): - PAIS - Partial androgen resistance syndrome

	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): - 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: childhood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - 1 MeSH reference: D050090		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Bifid scrotum - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Sterility / hypofertility - Uterine / uterus / Fallopian tubes anomalies

46,XX ovotesticular disorder of sex development		Partial androgen insensitivity syndrome
	Very frequent - Abnormal / polycystic ovaries - Ambiguous genitalia - Horizontal folds on scrotum - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Male internal genitalia anomaly / deferent ducts agenesis / ectopy / duplication - True hermaphrodism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Urogenital sinus Occasional - Chromosomal or genetic anomaly		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