Details of Disease

General Information of Disease (ID: DIS9R9LI)

• Disease Name: Familial hyperaldosteronism
• Synonyms: hereditary hyperaldosteronism; FH; genetic hyperaldosteronism
• Definition: Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISOEFNH: Primary aldosteronism
  DIS3WGAL: Hyperaldosteronism
  DIS9R9LI: Familial hyperaldosteronism
• Disease Identifiers:
  MONDO ID: MONDO_0016525
  MESH ID: C580087
  UMLS CUI: C3713420
  MedGen ID: 780028
  Orphanet ID: 235936
  SNOMED CT ID: 703231005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CYP11B2	TT9MNE2	Limited	Genetic Variation	[1]
KCNJ5	TTEO25X	Limited	Genetic Variation	[2]
ATP1A1	TTWK8D0	Strong	Genetic Variation	[3]
CACNA1D	TT7RGTM	Strong	Biomarker	[1]
CLCN2	TT30NW6	Strong	Genetic Variation	[4]
CYP11B1	TTIQUX7	Strong	Genetic Variation	[5]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LGALS14	OTOR23GX	Limited	Genetic Variation	[6]
ATP2B3	OT9DIEOP	Strong	Biomarker	[3]
FLNB	OTPCOYL6	Strong	Genetic Variation	[7]

References

• [1] Genetic causes of primary aldosteronism.Exp Mol Med. 2019 Nov 6;51(11):1-12. doi: 10.1038/s12276-019-0337-9.
• [2] Mosaicism for KCNJ5 Causing Early-Onset Primary Aldosteronism due to Bilateral Adrenocortical Hyperplasia.Am J Hypertens. 2020 Feb 22;33(2):124-130. doi: 10.1093/ajh/hpz172.
• [3] 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.
• [4] CLCN2 clicks with aldosterone-producing adenomas, too!.Eur J Endocrinol. 2019 Nov 1;181(5):C21-C22. doi: 10.1530/EJE-19-0688.
• [5] A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I.J Endocrinol Invest. 2011 Feb;34(2):140-4. doi: 10.1007/BF03347044. Epub 2010 Jul 13.
• [6] Elevated aldosterone and blood pressure in a mouse model of familial hyperaldosteronism with ClC-2 mutation.Nat Commun. 2019 Nov 14;10(1):5155. doi: 10.1038/s41467-019-13033-4.
• [7] 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.