MCID: FML156
MIFTS: 35

Familial Hyperaldosteronism

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

Aliases & Classifications for Familial Hyperaldosteronism

MalaCards integrated aliases for Familial Hyperaldosteronism:

Name: Familial Hyperaldosteronism 25 29 6 73
Familial Primary Aldosteronism 25
Hyperaldosteronism, Familial 25
Hereditary Aldosteronism 25
Fh 25

Classifications:



External Ids:

UMLS 73 C3713420

Summaries for Familial Hyperaldosteronism

Genetics Home Reference : 25 Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.

MalaCards based summary : Familial Hyperaldosteronism, also known as familial primary aldosteronism, is related to hyperaldosteronism, familial, type i and aldosterone-producing adenoma. An important gene associated with Familial Hyperaldosteronism is KCNJ5 (Potassium Voltage-Gated Channel Subfamily J Member 5), and among its related pathways/superpathways are Aldosterone synthesis and secretion and superpathway of steroid hormone biosynthesis. Affiliated tissues include heart, adrenal gland and kidney, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Familial Hyperaldosteronism

Graphical network of the top 20 diseases related to Familial Hyperaldosteronism:



Diseases related to Familial Hyperaldosteronism

Symptoms & Phenotypes for Familial Hyperaldosteronism

GenomeRNAi Phenotypes related to Familial Hyperaldosteronism according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.91 PMS2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.91 MEN1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.91 CYP11B2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.91 CYP11B2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.91 PMS2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.91 PMS2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.91 MEN1 PMS2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.91 CYP11B2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.91 CYP11B2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.91 PMS2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.91 MEN1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.91 PMS2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.91 CYP11B2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.91 CYP11B2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.91 CYP11B2 MEN1 PMS2
16 Reduced mammosphere formation GR00396-S 9.02 AGTR1 CYP11B1 GNA12 KCNJ5 MEN1

MGI Mouse Phenotypes related to Familial Hyperaldosteronism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.17 CYP11B2 GNA12 KCNJ5 MEN1 AGTR1 CACNA1H

Drugs & Therapeutics for Familial Hyperaldosteronism

Search Clinical Trials , NIH Clinical Center for Familial Hyperaldosteronism

Genetic Tests for Familial Hyperaldosteronism

Genetic tests related to Familial Hyperaldosteronism:

# Genetic test Affiliating Genes
1 Familial Hyperaldosteronism 29

Anatomical Context for Familial Hyperaldosteronism

MalaCards organs/tissues related to Familial Hyperaldosteronism:

41
Heart, Adrenal Gland, Kidney, Testes, Endothelial

Publications for Familial Hyperaldosteronism

Articles related to Familial Hyperaldosteronism:

(show top 50) (show all 51)
# Title Authors Year
1
Saga of Familial Hyperaldosteronism: Yet a New Channel. ( 29735637 )
2018
2
CLCN2 chloride channel mutations in familial hyperaldosteronism type II. ( 29403011 )
2018
3
Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3. ( 27793677 )
2017
4
ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II). ( 29022889 )
2017
5
Familial hyperaldosteronism type III. ( 28447626 )
2017
6
Evaluation of a Recently Established Test for Familial Hyperaldosteronism Type 1. ( 27923252 )
2016
7
A novel phenotype of familial hyperaldosteronism type III: Concurrence of aldosteronism and Cushing's syndrome. ( 27403928 )
2016
8
An Update on Familial Hyperaldosteronism. ( 26445452 )
2015
9
Pregnancy normalized familial hyperaldosteronism type I: a novel role for progesterone? ( 24943290 )
2014
10
Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature. ( 24819081 )
2014
11
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III. ( 24037882 )
2013
12
KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. ( 22203740 )
2012
13
Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism. ( 22447138 )
2012
14
The prevalence of familial hyperaldosteronism in apparently sporadic primary aldosteronism in Germany: a single center experience. ( 22274719 )
2012
15
Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II. ( 20927129 )
2011
16
Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms). ( 21876069 )
2011
17
A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I. ( 20634641 )
2011
18
Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation. ( 21502562 )
2011
19
Is familial hyperaldosteronism underdiagnosed in hypertensive children? ( 21502569 )
2011
20
A mother/daughter case of familial hyperaldosteronism. ( 20865750 )
2010
21
Familial hyperaldosteronism I-III. ( 20131203 )
2010
22
Elevated serum interleukin 6 levels in normotensive individuals with familial hyperaldosteronism type 1. ( 19221206 )
2009
23
Familial hyperaldosteronism type 1 in pregnancy. ( 19356193 )
2009
24
Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families. ( 18622235 )
2008
25
[Subclinical endothelial inflammation markers in a family with type I familial hyperaldosteronism caused by a de novo mutation]. ( 19030657 )
2008
26
Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. ( 18307725 )
2008
27
A new form of hereditary primary aldosteronism: familial hyperaldosteronism type III. ( 18685118 )
2008
28
No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II. ( 17121540 )
2006
29
Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity. ( 16003173 )
2005
30
Evidence for abnormal left ventricular structure and function in normotensive individuals with familial hyperaldosteronism type I. ( 15941863 )
2005
31
[Familial hyperaldosteronism]. ( 15351948 )
2004
32
Retention of heterozygosity at chromosome 7p22 and 11q13 in aldosterone-producing tumours of patients with familial hyperaldosteronism not remediable by glucocorticoids. ( 15175634 )
2004
33
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
34
New genetic insights in familial hyperaldosteronism. ( 12381543 )
2002
35
Familial hyperaldosteronism. ( 11595502 )
2001
36
A chimeric CYP11B1/CYP11B2 gene in glucocorticoid-insuppressible familial hyperaldosteronism. ( 11453962 )
2001
37
A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). ( 11073536 )
2000
38
Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. ( 10999827 )
2000
39
Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance. ( 10852446 )
2000
40
Familial hyperaldosteronism. ( 11004715 )
2000
41
Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I. ( 10566645 )
1999
42
Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. ( 9745430 )
1998
43
Linkage analysis of familial hyperaldosteronism type II--absence of linkage to the gene encoding the angiotensin II receptor type 1. ( 9506777 )
1998
44
Evidence for persistent dysfunction of wild-type aldosterone synthase gene in glucocorticoid-treated familial hyperaldosteronism type I. ( 9488230 )
1997
45
A PCR-based method of screening individuals of all ages, from neonates to the elderly, for familial hyperaldosteronism type I. ( 9483237 )
1997
46
In familial hyperaldosteronism type I, hybrid gene-induced aldosterone production dominates that induced by wild-type genes. ( 9360524 )
1997
47
Hybrid gene or hybrid steroids in the detection and screening for familial hyperaldosteronism type I. ( 8582097 )
1995
48
A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. ( 7864844 )
1995
49
Clinical, biochemical and genetic approaches to the detection of familial hyperaldosteronism type I. ( 8903619 )
1995
50
Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism. ( 1521363 )
1992

Variations for Familial Hyperaldosteronism

ClinVar genetic disease variations for Familial Hyperaldosteronism:

6
(show top 50) (show all 182)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ5 NM_000890.4(KCNJ5): c.121C> T (p.Arg41Cys) single nucleotide variant Benign/Likely benign rs115012103 GRCh38 Chromosome 11, 128911394: 128911394
2 KCNJ5 NM_000890.4(KCNJ5): c.121C> T (p.Arg41Cys) single nucleotide variant Benign/Likely benign rs115012103 GRCh37 Chromosome 11, 128781289: 128781289
3 KCNJ5 NM_000890.4(KCNJ5): c.957G> A (p.Arg319=) single nucleotide variant Benign/Likely benign rs192889782 GRCh38 Chromosome 11, 128916428: 128916428
4 KCNJ5 NM_000890.4(KCNJ5): c.957G> A (p.Arg319=) single nucleotide variant Benign/Likely benign rs192889782 GRCh37 Chromosome 11, 128786323: 128786323
5 KCNJ5 NM_000890.4(KCNJ5): c.-303_-291delCACACACACACACinsGAGAG indel Uncertain significance rs886047988 GRCh37 Chromosome 11, 128761324: 128761336
6 KCNJ5 NM_000890.4(KCNJ5): c.-303_-291delCACACACACACACinsGAGAG indel Uncertain significance rs886047988 GRCh38 Chromosome 11, 128891429: 128891441
7 KCNJ5 NM_000890.4(KCNJ5) indel Uncertain significance rs886047989 GRCh37 Chromosome 11, 128761324: 128761336
8 KCNJ5 NM_000890.4(KCNJ5) indel Uncertain significance rs886047989 GRCh38 Chromosome 11, 128891429: 128891441
9 KCNJ5 NM_000890.4(KCNJ5): c.-301_-291delCACACACACACinsG indel Uncertain significance rs886047990 GRCh37 Chromosome 11, 128761326: 128761336
10 KCNJ5 NM_000890.4(KCNJ5): c.-301_-291delCACACACACACinsG indel Uncertain significance rs886047990 GRCh38 Chromosome 11, 128891431: 128891441
11 KCNJ5 NM_000890.4(KCNJ5) indel Uncertain significance rs886047991 GRCh37 Chromosome 11, 128761326: 128761336
12 KCNJ5 NM_000890.4(KCNJ5) indel Uncertain significance rs886047991 GRCh38 Chromosome 11, 128891431: 128891441
13 KCNJ5 NM_000890.4(KCNJ5): c.-296_-295insGAGAGA insertion Uncertain significance rs886047994 GRCh37 Chromosome 11, 128761331: 128761332
14 KCNJ5 NM_000890.4(KCNJ5): c.-296_-295insGAGAGA insertion Uncertain significance rs886047994 GRCh38 Chromosome 11, 128891436: 128891437
15 KCNJ5 NM_000890.4(KCNJ5): c.-295_-291delCACACinsGAGAGAGAGAGAG indel Uncertain significance rs886047995 GRCh38 Chromosome 11, 128891437: 128891441
16 KCNJ5 NM_000890.4(KCNJ5): c.-295_-291delCACACinsGAGAGAGAGAGAG indel Uncertain significance rs886047995 GRCh37 Chromosome 11, 128761332: 128761336
17 KCNJ5 NM_000890.4(KCNJ5) indel Uncertain significance rs886047995 GRCh37 Chromosome 11, 128761332: 128761336
18 KCNJ5 NM_000890.4(KCNJ5) indel Uncertain significance rs886047995 GRCh38 Chromosome 11, 128891437: 128891441
19 KCNJ5 NM_000890.4(KCNJ5): c.-293C> G single nucleotide variant Uncertain significance rs376640553 GRCh37 Chromosome 11, 128761334: 128761334
20 KCNJ5 NM_000890.4(KCNJ5): c.-293C> G single nucleotide variant Uncertain significance rs376640553 GRCh38 Chromosome 11, 128891439: 128891439
21 KCNJ5 NM_000890.4(KCNJ5): c.-293_-291delCACinsGAGAGAGAGAGAGAGAG indel Uncertain significance rs886047998 GRCh38 Chromosome 11, 128891439: 128891441
22 KCNJ5 NM_000890.4(KCNJ5): c.-293_-291delCACinsGAGAGAGAGAGAGAGAG indel Uncertain significance rs886047998 GRCh37 Chromosome 11, 128761334: 128761336
23 KCNJ5 NM_000890.4(KCNJ5): c.-291_-288delCAGA deletion Uncertain significance rs886048001 GRCh38 Chromosome 11, 128891441: 128891444
24 KCNJ5 NM_000890.4(KCNJ5): c.-291_-288delCAGA deletion Uncertain significance rs886048001 GRCh37 Chromosome 11, 128761336: 128761339
25 KCNJ5 NM_000890.4(KCNJ5): c.-291_-286delCAGAGA deletion Uncertain significance rs886048002 GRCh38 Chromosome 11, 128891441: 128891446
26 KCNJ5 NM_000890.4(KCNJ5): c.-291_-286delCAGAGA deletion Uncertain significance rs886048002 GRCh37 Chromosome 11, 128761336: 128761341
27 KCNJ5 NM_000890.4(KCNJ5): c.-291delCinsGAGAGAGAG indel Uncertain significance rs886048003 GRCh37 Chromosome 11, 128761336: 128761336
28 KCNJ5 NM_000890.4(KCNJ5): c.-291delCinsGAGAGAGAG indel Uncertain significance rs886048003 GRCh38 Chromosome 11, 128891441: 128891441
29 KCNJ5 NM_000890.4(KCNJ5): c.-285G> C single nucleotide variant Uncertain significance rs886048006 GRCh37 Chromosome 11, 128761342: 128761342
30 KCNJ5 NM_000890.4(KCNJ5): c.-285G> C single nucleotide variant Uncertain significance rs886048006 GRCh38 Chromosome 11, 128891447: 128891447
31 KCNJ5 NM_000890.4(KCNJ5): c.-253G> T single nucleotide variant Uncertain significance rs886048009 GRCh37 Chromosome 11, 128761374: 128761374
32 KCNJ5 NM_000890.4(KCNJ5): c.-253G> T single nucleotide variant Uncertain significance rs886048009 GRCh38 Chromosome 11, 128891479: 128891479
33 KCNJ5 NM_000890.3(KCNJ5): c.800G> A (p.Arg267His) single nucleotide variant Uncertain significance rs886048010 GRCh37 Chromosome 11, 128781968: 128781968
34 KCNJ5 NM_000890.3(KCNJ5): c.800G> A (p.Arg267His) single nucleotide variant Uncertain significance rs886048010 GRCh38 Chromosome 11, 128912073: 128912073
35 KCNJ5 NM_000890.4(KCNJ5): c.*34G> T single nucleotide variant Likely benign rs116494206 GRCh37 Chromosome 11, 128786660: 128786660
36 KCNJ5 NM_000890.4(KCNJ5): c.*34G> T single nucleotide variant Likely benign rs116494206 GRCh38 Chromosome 11, 128916765: 128916765
37 KCNJ5 NM_000890.3(KCNJ5): c.*96G> A single nucleotide variant Likely benign rs77092337 GRCh37 Chromosome 11, 128786722: 128786722
38 KCNJ5 NM_000890.3(KCNJ5): c.*96G> A single nucleotide variant Likely benign rs77092337 GRCh38 Chromosome 11, 128916827: 128916827
39 KCNJ5 NM_000890.3(KCNJ5): c.*410C> T single nucleotide variant Benign rs2846675 GRCh37 Chromosome 11, 128787036: 128787036
40 KCNJ5 NM_000890.3(KCNJ5): c.*410C> T single nucleotide variant Benign rs2846675 GRCh38 Chromosome 11, 128917141: 128917141
41 KCNJ5 NM_000890.4(KCNJ5): c.*528C> T single nucleotide variant Benign rs3867250 GRCh37 Chromosome 11, 128787154: 128787154
42 KCNJ5 NM_000890.4(KCNJ5): c.*528C> T single nucleotide variant Benign rs3867250 GRCh38 Chromosome 11, 128917259: 128917259
43 KCNJ5 NM_000890.3(KCNJ5): c.*547G> A single nucleotide variant Likely benign rs114896724 GRCh37 Chromosome 11, 128787173: 128787173
44 KCNJ5 NM_000890.3(KCNJ5): c.*547G> A single nucleotide variant Likely benign rs114896724 GRCh38 Chromosome 11, 128917278: 128917278
45 KCNJ5 NM_000890.3(KCNJ5): c.*779G> T single nucleotide variant Benign rs4373934 GRCh38 Chromosome 11, 128917510: 128917510
46 KCNJ5 NM_000890.3(KCNJ5): c.*779G> T single nucleotide variant Benign rs4373934 GRCh37 Chromosome 11, 128787405: 128787405
47 KCNJ5 NM_000890.4(KCNJ5): c.*936C> G single nucleotide variant Uncertain significance rs77525858 GRCh38 Chromosome 11, 128917667: 128917667
48 KCNJ5 NM_000890.4(KCNJ5): c.*936C> G single nucleotide variant Uncertain significance rs77525858 GRCh37 Chromosome 11, 128787562: 128787562
49 KCNJ5 NM_000890.3(KCNJ5): c.*978T> G single nucleotide variant Uncertain significance rs886048017 GRCh37 Chromosome 11, 128787604: 128787604
50 KCNJ5 NM_000890.3(KCNJ5): c.*978T> G single nucleotide variant Uncertain significance rs886048017 GRCh38 Chromosome 11, 128917709: 128917709

Expression for Familial Hyperaldosteronism

Search GEO for disease gene expression data for Familial Hyperaldosteronism.

Pathways for Familial Hyperaldosteronism

Pathways related to Familial Hyperaldosteronism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.96 AGTR1 CACNA1H CYP11B1 CYP11B2 KCNJ5 MEN1
2
Show member pathways
10.28 CYP11B1 CYP11B2

GO Terms for Familial Hyperaldosteronism

Biological processes related to Familial Hyperaldosteronism according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular response to hormone stimulus GO:0032870 9.63 CACNA1H CYP11B1 CYP11B2
2 sterol metabolic process GO:0016125 9.52 CYP11B1 CYP11B2
3 C21-steroid hormone biosynthetic process GO:0006700 9.51 CYP11B1 CYP11B2
4 small molecule metabolic process GO:0044281 9.49 CYP11B1 CYP11B2
5 glucocorticoid biosynthetic process GO:0006704 9.48 CYP11B1 CYP11B2
6 secondary metabolite biosynthetic process GO:0044550 9.43 CYP11B1 CYP11B2
7 cellular response to peptide hormone stimulus GO:0071375 9.43 CYP11B1 CYP11B2 MEN1
8 dehydroaustinol biosynthetic process GO:1900563 9.4 CYP11B1 CYP11B2
9 cortisol metabolic process GO:0034650 9.37 CYP11B1 CYP11B2
10 cellular response to potassium ion GO:0035865 9.33 CACNA1H CYP11B1 CYP11B2
11 austinol biosynthetic process GO:1900560 9.32 CYP11B1 CYP11B2
12 aldosterone biosynthetic process GO:0032342 9.13 CACNA1H CYP11B1 CYP11B2
13 cortisol biosynthetic process GO:0034651 8.8 CACNA1H CYP11B1 CYP11B2

Molecular functions related to Familial Hyperaldosteronism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen GO:0016709 9.16 CYP11B1 CYP11B2
2 corticosterone 18-monooxygenase activity GO:0047783 8.96 CYP11B1 CYP11B2
3 steroid 11-beta-monooxygenase activity GO:0004507 8.62 CYP11B1 CYP11B2

Sources for Familial Hyperaldosteronism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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