Details of Disease

General Information of Disease (ID: DIS069LK)

Disease Name Hyperaldosteronism, familial, type IV
Synonyms
aldosteronism, primary, and hypertension; FH 4; hyperaldosteronism, familial, type 4; hyperaldosteronism, familial, type IV; HALD4; hyperaldosteronism, familial, type IV; familial hyperaldosteronism type IV; HALD4
Disease Hierarchy
DIS9R9LI: Familial hyperaldosteronism
DIS069LK: Hyperaldosteronism, familial, type IV
Disease Identifiers
MONDO ID
MONDO_0014875
UMLS CUI
C4310756
OMIM ID
617027
MedGen ID
934723

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
CACNA1H TTZPWGN Limited Biomarker [1]
PCSK9 TTNIZ2B Strong Biomarker [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNA1H DTUFAZ5 Strong Autosomal dominant [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CACNA1H OTM705TH Strong Autosomal dominant [3]
FLNB OTPCOYL6 Strong Biomarker [4]
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References

1 CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.EBioMedicine. 2016 Nov;13:225-236. doi: 10.1016/j.ebiom.2016.10.002. Epub 2016 Oct 4.
2 GENETICS IN ENDOCRINOLOGY: The expanding genetic horizon of primary aldosteronism.Eur J Endocrinol. 2018 Mar;178(3):R101-R111. doi: 10.1530/EJE-17-0946. Epub 2018 Jan 18.
3 Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. Elife. 2015 Apr 24;4:e06315. doi: 10.7554/eLife.06315.
4 Inherited Forms of Primary Hyperaldosteronism: New Genes, New Phenotypes and Proposition of A New Classification.Exp Clin Endocrinol Diabetes. 2019 Feb;127(2-03):93-99. doi: 10.1055/a-0713-0629. Epub 2018 Sep 10.