17-beta hydroxysteroid dehydrogenase III deficiency

Preferred Label : 17-beta hydroxysteroid dehydrogenase III deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 17-ketosteroid reductase deficiency of testis; 17-ksr deficiency; Neutral 17-beta-hydroxysteroid oxidoreductase deficiency; Pseudohermaphroditism, male, with gynecomastia;

Included titles and symbols : Polycystic ovary syndrome due to 17-ketosteroid reductase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gene encoding 17-beta hydroxysteroid dehydrogenase III (HSD17B3, 605573.0001);

Laboratory abnormalities : Abnormally high delta(4)-A to T ratio in plasma; 46,XY karyotype; 17-ketosteroid reductase defect; Thyroid dyshormogenesis;

Prefixed ID : #264300;

Details

Origin ID

264300;

UMLS CUI

C0268296;

Currated CISMeF NLP mapping
- 17 beta hydroxysteroid dehydrogenase 3 deficiency [Disease (Nov.)]
- 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency [NCIt concept]
- 17-Hydroxysteroid Dehydrogenase Deficiency [MeSH concept]
- 17-Hydroxysteroid dehydrogenase deficiency [MeSH Supplementary Concept]
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency [ICD-11 More detail]
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency [ORDO Disease]
- Testosterone 17-beta-dehydrogenase deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- 17-beta hydroxysteroid dehydrogenase III [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Female external genitalia in individual with 46,XY karyotype [HPO term]
- Gynecomastia [HPO term]
- Hypothyroidism [HPO term]
- Infertility [HPO term]
- Male pseudohermaphroditism [HPO term]
ORDO concept(s)
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 17 beta hydroxysteroid dehydrogenase 3 deficiency [Disease (Nov.)]
- 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency [NCIt concept]
- 17-Hydroxysteroid Dehydrogenase Deficiency [MeSH concept]
- 17-Hydroxysteroid dehydrogenase deficiency [MeSH Supplementary Concept]
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency [ORDO Disease]
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency [ICD-11 More detail]
- Testosterone 17-beta-dehydrogenase deficiency (disorder) [SNOMED CT concept]
- testosterone 17-beta-dehydrogenase deficiency [SNOMED Notion]

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