glucocorticoid-remediable aldosteronism

Summary
Synonym
  • GRA
  • GRS
  • familial hyperaldosteronism type I
  • glucocorticoid-suppressible hyperaldosteronism
Definition
A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3.
Super Class
primary hyperaldosteronism
External Links
Disease Ontology
DOID:14080
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
847 CAT catalase
873 CBR1 carbonyl reductase 1
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1584 CYP11B1 cytochrome P450 family 11 subfamily B member 1
1585 CYP11B2 cytochrome P450 family 11 subfamily B member 2
2765 GML glycosylphosphatidylinositol anchored molecule like
2876 GPX1 glutathione peroxidase 1
10327 AKR1A1 aldo-keto reductase family 1 member A1
51477 ISYNA1 inositol-3-phosphate synthase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 21 in total
HPO ID HPO Term
HP:0001324 Muscle weakness
HP:0002900 Hypokalemia
HP:0000421 Epistaxis
HP:0011410 Caesarian section
HP:0002018 Nausea
HP:0000360 Tinnitus
HP:0002315 Headache
HP:0000822 Hypertension
HP:0011739 Dexamethasone-suppressible primary hyperaldosteronism
HP:0002170 Intracranial hemorrhage
Displaying all 2 entries
Gene ID Gene Symbol Description
1584 CYP11B1 cytochrome P450 family 11 subfamily B member 1
1585 CYP11B2 cytochrome P450 family 11 subfamily B member 2

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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: August 19, 2024