ODCs

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1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
15 signs/symptoms

Partial androgen insensitivity syndrome

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

AR	(UniProt - OMIM)		AKT3	(UniProt - OMIM)
			PIK3R2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AR	(0.72)	PIK3R2

Citations in the biomedical literature:

Partial androgen insensitivity syndrome		Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
	Synonym(s): - PAIS - Partial androgen resistance syndrome		Synonym(s): - MPPH 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 genetic disease - Rare neurologic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: sporadic

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

Partial androgen insensitivity syndrome		Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
	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		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) Frequent - Cardiac septal defect - Depressed nasal bridge - Ectopic / horseshoe / fused kidneys - High forehead - Hypertelorism - Long / large / bulbous nose - Microstomia / little mouth - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Seizures / epilepsy / absences / spasms / status epilepticus - Telecanthus / canthal dystopy - Ventricular septal defect / interventricular communication