Details of Disease

General Information of Disease (ID: DIS0F683)

Disease Name Glucocorticoid-remediable aldosteronism
Synonyms
glucocorticoid-suppressible hyperaldosteronism; dexamethasone sensitive hypertension; HALD1; hyperaldosteronism, familial, type 1; familial hyperaldosteronism type I; glucocorticoid sensitive hypertension; ACTH-dependent hyperaldosteronism syndrome; FH 1; aldosteronism, sensitive to dexamethasone; hyperaldosteronism, familial type 1; hyperaldosteronism, familial, type I; dexamethasone-sensitive hypertension; aldosteronism, glucocorticoid-remediable; GRA; familial hyperaldosteronism type 1; glucocorticoid-remediable aldosteronism; glucocorticoid-sensitive hypertension; FH1; FH-I
Definition
Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.
Disease Hierarchy
DIS9R9LI: Familial hyperaldosteronism
DIS0F683: Glucocorticoid-remediable aldosteronism
Disease Identifiers
MONDO ID
MONDO_0007080
MESH ID
C563177
UMLS CUI
C3838731
OMIM ID
103900
MedGen ID
824577
Orphanet ID
403
SNOMED CT ID
703232003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CYP11B1 TTIQUX7 Strong Biomarker [1]
CYP11B2 TT9MNE2 Strong Genetic Variation [2]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP11B1 DEPE0RD Strong Autosomal dominant [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYP11B1 OTKKL894 Strong Autosomal dominant [3]
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References

1 Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation.Hypertension. 2011 Jun;57(6):1117-21. doi: 10.1161/HYPERTENSIONAHA.110.168740. Epub 2011 Apr 18.
2 Genetic analyses of the chimeric CYP11B1/CYP11B2 gene in a Korean family with glucocorticoid-remediable aldosteronism.J Korean Med Sci. 2010 Sep;25(9):1379-83. doi: 10.3346/jkms.2010.25.9.1379. Epub 2010 Aug 14.
3 A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 1992 Jan 16;355(6357):262-5. doi: 10.1038/355262a0.