Details of Disease | DrugMAP

General Information of Disease (ID: DISFCXXZ)

Disease Name	Familial hyperaldosteronism type III
Synonyms	HALD3; hyperaldosteronism, familial, type 3; FH 3; FH III; hyperaldosteronism, familial, type III; familial hyperaldosteronism type 3; FH3; FH-III
Definition	Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.
Disease Hierarchy	DIS9R9LI: Familial hyperaldosteronism DISFCXXZ: Familial hyperaldosteronism type III
Disease Identifiers	MONDO ID MONDO_0013359 UMLS CUI C3838758 OMIM ID 613677 MedGen ID 824604 Orphanet ID 251274 SNOMED CT ID 703234002

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
KCNJ5	TTEO25X	Limited	Biomarker	[1]
KCNJ5	TTEO25X	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNJ5	OTA2MBIE	Strong	Autosomal dominant	[2]
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References

1	Genetics of mineralocorticoid excess: an update for clinicians.Eur J Endocrinol. 2013 Jun 1;169(1):R15-25. doi: 10.1530/EJE-12-0813. Print 2013 Jul.
2	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.