ODCs

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1 OMIM reference -
1 associated gene
9 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
3 associated genes
14 signs/symptoms

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Muir-Torre syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSD17B3	(0.63)	MLH1

Citations in the biomedical literature:

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency		Muir-Torre syndrome
	Synonym(s): - 17-beta-hydroxysteroid dehydrogenase 3 deficiency - 17-ketoreductase deficiency - 17-ketosteroidreductase deficiency - Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency		Synonym(s): - Multiple keratoacanthoma, Muir-Torre type

	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 eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D055653

46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency		Muir-Torre syndrome
	Very frequent - Ambiguous genitalia - Autosomal recessive inheritance - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Late puberty / hypogonadism / hypogenitalism - Male pseudohermaphrodism / lack of virilisation - Sterility / hypofertility - Undescended / ectopic testes / cryptorchidia / unfixed testes - Urethral anomalies / stenosis / posterior urethral valves / megalocystis Occasional - Hypothyroidy		Very frequent - Adenoma sebaceum - Autosomal dominant inheritance - Skin tumors / lumps / epidermal cysts Frequent - Colon neoplasm / tumor / carcinoma / cancer - Estomach / gastric neoplasm / tumor / carcinoma / cancer Occasional - Breast neoplasm / tumor / carcinoma / cancer - Hematologic / blood / lymphatic cancer - Hepatic / liver neoplasm / tumor / carcinoma / cancer - Kidney / renal neoplasm / tumor / carcinoma / cancer - Laryngeal neoplasm / tumor / carcinoma / cancer - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Salivary gland neoplasm / tumor / carcinoma / cancer - Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer - Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer