ODCs

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1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
13 signs/symptoms

Partial androgen insensitivity syndrome

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

AR	(UniProt - OMIM)		AGK	(UniProt - OMIM)
			SLC25A4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AR	(0.77)	SLC25A4

Citations in the biomedical literature:

Partial androgen insensitivity syndrome		Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
	Synonym(s): - PAIS - Partial androgen resistance syndrome		Synonym(s): - Sengers 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): - Inborn errors of metabolism - Rare cardiac disease - Rare eye disease - Rare genetic 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: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C538280

Partial androgen insensitivity syndrome		Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
	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 - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Autosomal recessive inheritance - Cardiomyopathy / hypertrophic / dilated - Cataract / lens opacification - Myopathy - Nystagmus - Organic acid metabolism anomalies - Strabismus / squint Frequent - Myopia - Stillbirth / neonatal death Occasional - Abnormal ERG / electroretinogram / electroretinography - Corneal dystrophy - Glaucoma