MCID: HYP600
MIFTS: 34

Hyperaldosteronism, Familial, Type Ii

Categories: Rare diseases, Endocrine diseases, Genetic diseases, Cardiovascular diseases, Nephrological diseases

Aliases & Classifications for Hyperaldosteronism, Familial, Type Ii

MalaCards integrated aliases for Hyperaldosteronism, Familial, Type Ii:

Name: Hyperaldosteronism, Familial, Type Ii 57 29 13 6 73
Familial Hyperaldosteronism Type 2 53 59 73
Familial Hyperaldosteronism Type Ii 53 59
Familial Adrenal Adenoma 53 59
Fh2 53 59
Hyperaldosteronism Familial Type 2 76
Hald2 57
Fh Ii 57
Fh-Ii 59
Fhii 53

Characteristics:

Orphanet epidemiological data:

59
familial hyperaldosteronism type ii
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 605635
Orphanet 59 ORPHA404
UMLS via Orphanet 74 C1854107
ICD10 via Orphanet 34 E26.0
MedGen 42 C1854107

Summaries for Hyperaldosteronism, Familial, Type Ii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 404Disease definitionFamilial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.EpidemiologyPA is the most common form of secondary hypertension and is found in 10% of cases. However, familial forms are rare and represent 5% of adult PA cases. FH-II is considered the most common form of familial hyperaldosteronism and it is estimated at around 4% of all PA cases.Clinical descriptionHypertension, of varying severity even within members of the same family, is noted in most patients and occurs during adulthood. FH-II may present either as an aldosterone-producing adenoma (APA; see this term), bilateral adrenal hyperaldosteronism (BAH), or both. Fatigue, and muscle weakness are reported. Complications due to hypertension, chronic increase of aldosterone secretion accompanied with sodium retention and hypokalemia (found in approximately 25% of patients) may occur. In addition, patients with PA are at increased risk of cardiovascular events, such as coronary artery disease, stroke, non-fatal myocardial infarction, atrial fibrillation and heart failure.EtiologyThe exact etiopathogenetic mechanism is unknown. Linkage analysis has shown an association with the chromosomal region 7p22 but no causal gene has been found to date. Specific heterozygousmissense mutations of the KCNJ5 gene (11q24), encoding the G-protein-activated inward rectifier potassium channel GIRK-4 (p.G151E, p.Y152C) and causing FH type III (see this term), have been identified in some rare cases of families with a mild form of FH-III but that resembles FH-II.Diagnostic methodsFH-II is diagnosed when PA is found in two or more family members by biochemical testing (aldosterone/ plasma renin activity (PRA) ratio testing, fludrocortisone or saline aldosterone suppression testing), and when diagnosis of familial hyperaldosteronism type I (FH-I; see this term) is excluded by hybrid gene testing. Patients show a non-specific variable aldosterone response to upright posture and AngII infusion. Adrenal venous sampling and imaging techniques (computed tomography, magnetic resonance imaging) allow to distinguish lateralized (APA, unilateral adrenal hyperplasia) from bilateral forms of the disease.Differential diagnosisFH-II is clinically and biochemically indistinguishable from sporadic PA. Differential diagnosis also includes the other forms of FH (FH-I and FH-III; see these terms).Genetic counselingFH-II is transmitted in an autosomal dominant mode with variable penetrance.Management and treatmentFH-II does not respond to glucocorticoid treatment. Adrenalectomy is performed in case of APA, and medical therapy with aldosterone antagonists in case of BAH. In case of severe and/or resistant hypertension, additional antihypertensive medication is required.PrognosisWith treatment prognosis is good. The cardiovascular morbidity of FH-II patients is increased compared to patients with essential hypertension.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hyperaldosteronism, Familial, Type Ii, also known as familial hyperaldosteronism type 2, is related to hyperaldosteronism, familial, type iii and neuroblastoma. An important gene associated with Hyperaldosteronism, Familial, Type Ii is CLCN2 (Chloride Voltage-Gated Channel 2). The drugs Simvastatin and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and adrenal gland, and related phenotypes are hypertension and muscle weakness

Wikipedia : 76 Hyperaldosteronism, also aldosteronism, is a medical condition wherein too much aldosterone is produced... more...

Description from OMIM: 605635

Related Diseases for Hyperaldosteronism, Familial, Type Ii

Diseases in the Familial Hyperaldosteronism family:

Hyperaldosteronism, Familial, Type I Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Familial, Type Iii Hyperaldosteronism, Familial, Type Iv

Diseases related to Hyperaldosteronism, Familial, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperaldosteronism, familial, type iii 11.0
2 neuroblastoma 10.1
3 familial hyperaldosteronism 9.8

Symptoms & Phenotypes for Hyperaldosteronism, Familial, Type Ii

Clinical features from OMIM:

605635

Human phenotypes related to Hyperaldosteronism, Familial, Type Ii:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 obligate (100%) Obligate (100%) HP:0000822
2 muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001324
3 hypokalemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002900
4 epistaxis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000421
5 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
6 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
7 tinnitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000360
8 adrenal hyperplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008221
9 abnormal circulating renin 59 32 hallmark (90%) Very frequent (99-80%) HP:0040084
10 nausea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002018
11 secretory adrenocortical adenoma 59 32 frequent (33%) Frequent (79-30%) HP:0011746
12 glucocortocoid-insensitive primary hyperaldosteronism 59 32 hallmark (90%) Very frequent (99-80%) HP:0011740
13 metabolic alkalosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0200114
14 dexamethasone-suppresible primary hyperaldosteronism 59 Excluded (0%)

Drugs & Therapeutics for Hyperaldosteronism, Familial, Type Ii

Drugs for Hyperaldosteronism, Familial, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 3 79902-63-9 54454
2 Antibodies Phase 3
3 Antibodies, Monoclonal Phase 3
4 Anticholesteremic Agents Phase 3
5 Antimetabolites Phase 3
6 Atorvastatin Calcium Phase 3 134523-03-8
7 Calcium, Dietary Phase 3
8 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
9 Hypolipidemic Agents Phase 3
10 Immunoglobulins Phase 3
11 Lipid Regulating Agents Phase 3
12 Rosuvastatin Calcium Phase 3 147098-20-2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Alirocumab (REGN727/SAR236553) in Patients With heFH (Heterozygous Familial Hypercholesterolemia) Who Are Not Adequately Controlled With Their LMT (Lipid-Modifying Therapy) Completed NCT01709500 Phase 3 LMT (atorvastatin, simvastatin, or rosuvastatin);alirocumab;Placebo

Search NIH Clinical Center for Hyperaldosteronism, Familial, Type Ii

Genetic Tests for Hyperaldosteronism, Familial, Type Ii

Genetic tests related to Hyperaldosteronism, Familial, Type Ii:

# Genetic test Affiliating Genes
1 Hyperaldosteronism, Familial, Type Ii 29

Anatomical Context for Hyperaldosteronism, Familial, Type Ii

MalaCards organs/tissues related to Hyperaldosteronism, Familial, Type Ii:

41
Heart, Testes, Adrenal Gland

Publications for Hyperaldosteronism, Familial, Type Ii

Articles related to Hyperaldosteronism, Familial, Type Ii:

(show all 12)
# Title Authors Year
1
CLCN2 chloride channel mutations in familial hyperaldosteronism type II. ( 29403011 )
2018
2
ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II). ( 29022889 )
2017
3
Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II. ( 20927129 )
2011
4
Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families. ( 18622235 )
2008
5
Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. ( 18307725 )
2008
6
No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II. ( 17121540 )
2006
7
Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity. ( 16003173 )
2005
8
Genomic structure of the human gene for protein kinase A regulatory subunit R1-beta (PRKAR1B) on 7p22: no evidence for mutations in familial hyperaldosteronism type II in a large affected kindred. ( 15579186 )
2004
9
A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). ( 11073536 )
2000
10
Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. ( 9745430 )
1998
11
Linkage analysis of familial hyperaldosteronism type II--absence of linkage to the gene encoding the angiotensin II receptor type 1. ( 9506777 )
1998
12
Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism. ( 1521363 )
1992

Variations for Hyperaldosteronism, Familial, Type Ii

ClinVar genetic disease variations for Hyperaldosteronism, Familial, Type Ii:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN2 NM_004366.5(CLCN2): c.71G> A (p.Gly24Asp) single nucleotide variant Pathogenic/Likely pathogenic rs1085307938 GRCh37 Chromosome 3, 184076912: 184076912
2 CLCN2 NM_004366.5(CLCN2): c.71G> A (p.Gly24Asp) single nucleotide variant Pathogenic/Likely pathogenic rs1085307938 GRCh38 Chromosome 3, 184359124: 184359124
3 CLCN2 NM_004366.5(CLCN2): c.2593A> C (p.Ser865Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 184346710: 184346710
4 CLCN2 NM_004366.5(CLCN2): c.2593A> C (p.Ser865Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 184064498: 184064498
5 CLCN2 NM_004366.5(CLCN2): c.1084A> T (p.Lys362del) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 184356994: 184356994
6 CLCN2 NM_004366.5(CLCN2): c.1084A> T (p.Lys362del) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 184074782: 184074782
7 CLCN2 NM_004366.5(CLCN2): c.515G> A (p.Arg172Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 184075850: 184075850
8 CLCN2 NM_004366.5(CLCN2): c.515G> A (p.Arg172Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 184358062: 184358062
9 CLCN2 NM_004366.5(CLCN2): c.76T> A (p.Tyr26Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 184359119: 184359119
10 CLCN2 NM_004366.5(CLCN2): c.76T> A (p.Tyr26Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 184076907: 184076907
11 CLCN2 NM_004366.5(CLCN2): c.65T> A (p.Met22Lys) single nucleotide variant Pathogenic rs758379595 GRCh38 Chromosome 3, 184359130: 184359130
12 CLCN2 NM_004366.5(CLCN2): c.65T> A (p.Met22Lys) single nucleotide variant Pathogenic rs758379595 GRCh37 Chromosome 3, 184076918: 184076918

Expression for Hyperaldosteronism, Familial, Type Ii

Search GEO for disease gene expression data for Hyperaldosteronism, Familial, Type Ii.

Pathways for Hyperaldosteronism, Familial, Type Ii

GO Terms for Hyperaldosteronism, Familial, Type Ii

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