Details of Disease | DrugMAP

General Information of Disease (ID: DISO4PCN)

Disease Name	Familial hypoaldosteronism
Definition	Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone).
Disease Hierarchy	DISSEH6G: Hyponatraemia DISO4PCN: Familial hypoaldosteronism
Disease Identifiers	MONDO ID MONDO_0018541 UMLS CUI C4275180 MedGen ID 899592 Orphanet ID 427 SNOMED CT ID 715343000

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	Supportive	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	Supportive	Autosomal recessive	[1]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.