apparent mineralocorticoid excess syndrome

Summary
Synonym
  • 11-beta-hydroxysteroid dehydrogenase deficiency type 2
  • Ulick syndrome
  • cortisol 11-beta-ketoreductase deficiency
  • syndrome of apparent mineralocorticoid excess
Definition
A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16.
Super Class
steroid inherited metabolic disorder
External Links
Disease Ontology
DOID:4367
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
3290 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1
3291 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
9469 CHST3 carbohydrate sulfotransferase 3
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 21 - 22 of 22 in total
HPO ID HPO Term
HP:0001510 Growth delay
HP:0011463 Childhood onset
Displaying 1 entry
Gene ID Gene Symbol Description
3291 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024