Details of Disease

General Information of Disease (ID: DISR8EFW)

Disease Name Familial hyperaldosteronism type II
Synonyms HALD2; hyperaldosteronism, familial, type II; FH 2; FHII; FH2; familial hyperaldosteronism type 2; familial adrenal adenoma; FH-II
Definition Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.
Disease Hierarchy
DISO17X1: Adrenal cortex neoplasm
DIS9R9LI: Familial hyperaldosteronism
DISR8EFW: Familial hyperaldosteronism type II
Disease Identifiers
MONDO ID
MONDO_0011576
MESH ID
C565312
UMLS CUI
C1854107
OMIM ID
605635
MedGen ID
340137
Orphanet ID
404
SNOMED CT ID
703233008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CLCN2 TT30NW6 Moderate Autosomal dominant [1]
CLCN2 TT30NW6 Strong Genetic Variation [2]
KCNJ5 TTEO25X Strong Genetic Variation [3]
PCSK9 TTNIZ2B Strong Biomarker [4]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLCN2 OTBUHK0B Moderate Autosomal dominant [1]
RBAK OTYJ6EAU Strong Genetic Variation [5]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels.Curr Hypertens Rep. 2019 Apr 4;21(4):31. doi: 10.1007/s11906-019-0934-y.
3 KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. Hypertension. 2012 Feb;59(2):235-40. doi: 10.1161/HYPERTENSIONAHA.111.183996. Epub 2011 Dec 27.
4 Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism.Endocr J. 2012;59(6):497-502. doi: 10.1507/endocrj.ej11-0406. Epub 2012 Mar 11.
5 Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II.Clin Exp Pharmacol Physiol. 2008 Apr;35(4):380-5. doi: 10.1111/j.1440-1681.2008.04882.x.