Details of Disease | DrugMAP

General Information of Disease (ID: DIS7XTRD)

Disease Name	Familial hyperreninemic hypoaldosteronism type 2
Synonyms	Fhha2; hyperreninemic hypoaldosteronism, familial, 2; aldosterone synthase deficiency unrelated to the aldosterone synthase gene; aldosterone synthase deficiency unrelated to CYP11B2; FHHA2; hyperreninemic hypoaldosteronism, familial, type 2
Disease Hierarchy	DISO4PCN: Familial hypoaldosteronism DIS7XTRD: Familial hyperreninemic hypoaldosteronism type 2
Disease Identifiers	MONDO ID MONDO_0011754 MESH ID C564638 UMLS CUI C1846990 OMIM ID 606984 MedGen ID 335571

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP11B2	DE6TYUK	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP11B2	OTIOLWYN	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.