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Partial androgen insensitivity syndrome

1 OMIM reference -
1 associated gene
9 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

Familial hypospadias

4 OMIM references -
2 associated genes
1 sign/symptom

Partial androgen insensitivity syndrome

Familial hypospadias

AR	(UniProt - OMIM)		AR	(UniProt - OMIM)
			MAMLD1	(UniProt - OMIM)


COMMON GENES	AR

Citations in the biomedical literature:

Partial androgen insensitivity syndrome		Familial hypospadias
	Synonym(s): - PAIS - Partial androgen resistance syndrome		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 developmental defect during embryogenesis - Rare genetic disease - 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: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references


COMMON SIGNS	- Hypospadias / epispadias / bent penis

Partial androgen insensitivity syndrome		Familial hypospadias
	Very frequent - Bifid scrotum - 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		(no more signs)