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Familial hyperaldosteronism type II(HALD2)

MedGen UID:
340137
•Concept ID:
C1854107
•
Disease or Syndrome
Synonym: FH II
SNOMED CT: Familial hyperaldosteronism type 2 (703233008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): CLCN2 (3q27.1)
 
Monarch Initiative: MONDO:0011576
OMIM®: 605635
Orphanet: ORPHA404

Definition

Familial hyperaldosteronism type II (HALD2) is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing. Spironolactone is an effective treatment (summary by Scholl et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial hyperaldosteronism, see HALD1 (103900). [from OMIM]

Clinical features

From HPO
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Hypokalemia
MedGen UID:
5712
•Concept ID:
C0020621
•
Finding
An abnormally decreased potassium concentration in the blood.
See: Feature record | Search on this feature
Increased circulating aldosterone concentration
MedGen UID:
6960
•Concept ID:
C0020428
•
Disease or Syndrome
Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Familial hyperaldosteronism type II in Orphanet.

Professional guidelines

PubMed

Ca(V)3.2 (CACNA1H) in Primary Aldosteronism.
Dinh HA, Stölting G, Scholl UI
Handb Exp Pharmacol 2023;279:249-262. doi: 10.1007/164_2023_660. PMID: 37311830
SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism.
Zennaro MC, Jeunemaitre X
Ann Endocrinol (Paris) 2016 Jul;77(3):214-9. Epub 2016 Jun 15 doi: 10.1016/j.ando.2016.02.006. PMID: 27315758

Recent clinical studies

Etiology

Genetics of primary aldosteronism.
Vaidya A, Hamrahian AH, Auchus RJ
Endocr Pract 2015 Apr;21(4):400-5. Epub 2015 Feb 9 doi: 10.4158/EP14512.RA. PMID: 25667376Free PMC Article
Heritable forms of hypertension.
Vehaskari VM
Pediatr Nephrol 2009 Oct;24(10):1929-37. Epub 2007 Jul 24 doi: 10.1007/s00467-007-0537-8. PMID: 17647025Free PMC Article
Primary aldosteronism: learning from the study of familial varieties.
Stowasser M, Gordon RD
J Hypertens 2000 Sep;18(9):1165-76. doi: 10.1097/00004872-200018090-00002. PMID: 10994747

Diagnosis

Pathogenesis of Familial Hyperaldosteronism Type II: New Concepts Involving Anion Channels.
Stowasser M, Wolley M, Wu A, Gordon RD, Schewe J, Stölting G, Scholl UI
Curr Hypertens Rep 2019 Apr 4;21(4):31. doi: 10.1007/s11906-019-0934-y. PMID: 30949771
Monogenic mineralocorticoid hypertension.
Stowasser M, Gordon RD
Best Pract Res Clin Endocrinol Metab 2006 Sep;20(3):401-20. doi: 10.1016/j.beem.2006.07.008. PMID: 16980202
Familial hyperaldosteronism.
Stowasser M, Gordon RD
J Steroid Biochem Mol Biol 2001 Sep;78(3):215-29. doi: 10.1016/s0960-0760(01)00097-8. PMID: 11595502
Familial hyperaldosteronism.
Torpy DJ, Stratakis CA, Chrousos GP
Braz J Med Biol Res 2000 Oct;33(10):1149-55. doi: 10.1590/s0100-879x2000001000004. PMID: 11004715
Hyper- and hypoaldosteronism.
Torpy DJ, Stratakis CA, Chrousos GP
Vitam Horm 1999;57:177-216. doi: 10.1016/s0083-6729(08)60644-5. PMID: 10232050

Therapy

Non-glucocorticoid-remediable aldosteronism in an infant with low-renin hypertension.
Malagon-Rogers M
Pediatr Nephrol 2004 Feb;19(2):235-6. Epub 2003 Nov 25 doi: 10.1007/s00467-003-1339-2. PMID: 14648333
Familial hyperaldosteronism.
Stowasser M, Gordon RD
J Steroid Biochem Mol Biol 2001 Sep;78(3):215-29. doi: 10.1016/s0960-0760(01)00097-8. PMID: 11595502

Prognosis

Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity.
So A, Duffy DL, Gordon RD, Jeske YW, Lin-Su K, New MI, Stowasser M
J Hypertens 2005 Aug;23(8):1477-84. doi: 10.1097/01.hjh.0000174299.66369.26. PMID: 16003173

Clinical prediction guides

Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families.
Sukor N, Mulatero P, Gordon RD, So A, Duffy D, Bertello C, Kelemen L, Jeske Y, Veglio F, Stowasser M
J Hypertens 2008 Aug;26(8):1577-82. doi: 10.1097/HJH.0b013e3283028352. PMID: 18622235
Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity.
So A, Duffy DL, Gordon RD, Jeske YW, Lin-Su K, New MI, Stowasser M
J Hypertens 2005 Aug;23(8):1477-84. doi: 10.1097/01.hjh.0000174299.66369.26. PMID: 16003173
A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22).
Lafferty AR, Torpy DJ, Stowasser M, Taymans SE, Lin JP, Huggard P, Gordon RD, Stratakis CA
J Med Genet 2000 Nov;37(11):831-5. doi: 10.1136/jmg.37.11.831. PMID: 11073536Free PMC Article
Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene.
Torpy DJ, Gordon RD, Lin JP, Huggard PR, Taymans SE, Stowasser M, Chrousos GP, Stratakis CA
J Clin Endocrinol Metab 1998 Sep;83(9):3214-8. doi: 10.1210/jcem.83.9.5086. PMID: 9745430
Karyotypic abnormalities in benign adrenocortical tumors producing aldosterone.
Gordon RD, Stowasser M, Martin N, Epping A, Conic S, Klemm SA, Tunny TJ, Rutherford JC
Cancer Genet Cytogenet 1993 Jul 1;68(1):78-81. doi: 10.1016/0165-4608(93)90078-z. PMID: 8330287

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    • ClinVar
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      Clinical tests in GTR
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      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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