cortisone reductase deficiency 2

Summary
Synonym
  • CORTRD2
Definition
A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32.
Super Class
autosomal dominant disease cortisone reductase deficiency
Disease Ontology
DOID:0090140
Mondo Disease Ontology
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3290 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
15483 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25116 Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1
The Human Phenotype Ontology
Displaying all 7 entries
HPO ID HPO Term
HP:0001513 Obesity
HP:0000855 Insulin resistance
HP:0005616 Accelerated skeletal maturation
HP:0000006 Autosomal dominant inheritance
HP:0003621 Juvenile onset
HP:0012411 Premature pubarche
HP:0000956 Acanthosis nigricans
Displaying 1 entry
Gene ID Gene Symbol Description
3290 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024