FH
MCID: FML156
MIFTS: 37

Familial Hyperaldosteronism (FH)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare 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 ii and hyperaldosteronism, familial, type i. 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 Cushing syndrome. Affiliated tissues include kidney, heart and adrenal gland, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Familial Hyperaldosteronism

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 Familial Hyperaldosteronism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 hyperaldosteronism, familial, type ii 33.5 CLCN2 FHII
2 hyperaldosteronism, familial, type i 33.2 CYP11B1 CYP11B2
3 cell type benign neoplasm 31.5 CYP11B2 KCNJ5 MEN1
4 conn's syndrome 29.1 AGTR1 CACNA1H CYP11B1 CYP11B2 KCNJ5 MEN1
5 hereditary leiomyomatosis and renal cell cancer 12.1
6 fumarase deficiency 12.1
7 hyperaldosteronism, familial, type iii 11.9
8 floating-harbor syndrome 11.9
9 renal cell carcinoma, papillary, 1 11.8
10 hypercholesterolemia, familial 11.7
11 leiomyomatosis 11.6
12 kidney cancer 11.5
13 renal cell carcinoma, nonpapillary 11.5
14 pheochromocytoma 11.5
15 fumarate hydratase deficiency 11.4
16 leiomyoma, uterine 11.2
17 leiomyoma 11.2
18 hereditary paraganglioma-pheochromocytoma syndromes 11.2
19 leiomyosarcoma 11.2
20 encephalopathy 11.2
21 asperger syndrome 11.1
22 leiomyoma cutis 11.1
23 cutaneous leiomyosarcoma 11.1
24 hyperaldosteronism, familial, type iv 11.1
25 birt-hogg-dube syndrome 11.0
26 deafness, autosomal dominant 69 11.0
27 carrion's disease 11.0
28 reproductive organ benign neoplasm 11.0
29 uterine benign neoplasm 11.0
30 ovarian benign neoplasm 11.0
31 gastric leiomyoma 11.0
32 acute contagious conjunctivitis 11.0
33 plethora of newborn 11.0
34 xanthogranulomatous pyelonephritis 11.0
35 skin sarcoma 11.0
36 mucinous ovarian cystadenoma 11.0
37 ovarian cystadenoma 11.0
38 hereditary renal cell carcinoma 11.0
39 dartoic leiomyoma 11.0
40 familial renal papillary carcinoma 11.0
41 familial renal oncocytoma 11.0
42 aldosterone-producing adenoma 10.2 CYP11B2 KCNJ5
43 homozygous familial hypercholesterolemia 10.2
44 steroid inherited metabolic disorder 10.1 CYP11B1 CYP11B2
45 adrenal cortex disease 10.1 CYP11B1 CYP11B2 KCNJ5
46 adrenal gland disease 10.1 CYP11B1 CYP11B2 KCNJ5
47 juvenile absence epilepsy 10.1 CACNA1H CLCN2
48 adolescence-adult electroclinical syndrome 10.1 CACNA1H CLCN2
49 adrenal rest tumor 10.1 CYP11B1 CYP11B2
50 myocardial stunning 10.0 AGTR1 KCNJ5

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 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.58 PMS2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.58 MEN1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.58 CYP11B2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.58 CYP11B2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.58 PMS2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.58 PMS2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.58 MEN1 PMS2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.58 CYP11B2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.58 CYP11B2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.58 PMS2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.58 MEN1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.58 PMS2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.58 CYP11B2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.58 CYP11B2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.58 CYP11B2 MEN1 PMS2

MGI Mouse Phenotypes related to Familial Hyperaldosteronism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.23 AGTR1 CACNA1H CLCN2 CYP11B1 CYP11B2 GNA12

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
Kidney, Heart, Adrenal Gland, Skin, Prostate, Small Intestine, Cortex

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 196)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ5 NM_000890.3(KCNJ5): c.1159G> C (p.Gly387Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199830292 GRCh37 Chromosome 11, 128786525: 128786525
2 KCNJ5 NM_000890.3(KCNJ5): c.1159G> C (p.Gly387Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199830292 GRCh38 Chromosome 11, 128916630: 128916630
3 KCNJ5 NM_000890.4(KCNJ5): c.171T> C (p.Ser57=) single nucleotide variant Benign rs6590357 GRCh38 Chromosome 11, 128911444: 128911444
4 KCNJ5 NM_000890.4(KCNJ5): c.171T> C (p.Ser57=) single nucleotide variant Benign rs6590357 GRCh37 Chromosome 11, 128781339: 128781339
5 KCNJ5 NM_000890.3(KCNJ5): c.810T> G (p.Leu270=) single nucleotide variant Benign rs7118824 GRCh38 Chromosome 11, 128912083: 128912083
6 KCNJ5 NM_000890.3(KCNJ5): c.810T> G (p.Leu270=) single nucleotide variant Benign rs7118824 GRCh37 Chromosome 11, 128781978: 128781978
7 KCNJ5 NM_000890.4(KCNJ5): c.834T> C (p.His278=) single nucleotide variant Benign rs7118833 GRCh38 Chromosome 11, 128912107: 128912107
8 KCNJ5 NM_000890.4(KCNJ5): c.834T> C (p.His278=) single nucleotide variant Benign rs7118833 GRCh37 Chromosome 11, 128782002: 128782002
9 KCNJ5 NM_000890.4(KCNJ5): c.844C> G (p.Gln282Glu) single nucleotide variant Benign rs7102584 GRCh38 Chromosome 11, 128912117: 128912117
10 KCNJ5 NM_000890.4(KCNJ5): c.844C> G (p.Gln282Glu) single nucleotide variant Benign rs7102584 GRCh37 Chromosome 11, 128782012: 128782012
11 KCNJ5 NM_000890.3(KCNJ5): c.937+7C> T single nucleotide variant Benign rs45516097 GRCh38 Chromosome 11, 128912217: 128912217
12 KCNJ5 NM_000890.3(KCNJ5): c.937+7C> T single nucleotide variant Benign rs45516097 GRCh37 Chromosome 11, 128782112: 128782112
13 KCNJ5 NM_000890.4(KCNJ5): c.938-10G> A single nucleotide variant Benign rs4937391 GRCh38 Chromosome 11, 128916399: 128916399
14 KCNJ5 NM_000890.4(KCNJ5): c.938-10G> A single nucleotide variant Benign rs4937391 GRCh37 Chromosome 11, 128786294: 128786294
15 KCNJ5 NM_000890.4(KCNJ5): c.121C> T (p.Arg41Cys) single nucleotide variant Benign/Likely benign rs115012103 GRCh38 Chromosome 11, 128911394: 128911394
16 KCNJ5 NM_000890.4(KCNJ5): c.121C> T (p.Arg41Cys) single nucleotide variant Benign/Likely benign rs115012103 GRCh37 Chromosome 11, 128781289: 128781289
17 KCNJ5 NM_000890.4(KCNJ5): c.957G> A (p.Arg319=) single nucleotide variant Benign/Likely benign rs192889782 GRCh38 Chromosome 11, 128916428: 128916428
18 KCNJ5 NM_000890.4(KCNJ5): c.957G> A (p.Arg319=) single nucleotide variant Benign/Likely benign rs192889782 GRCh37 Chromosome 11, 128786323: 128786323
19 KCNJ5 NM_000890.4(KCNJ5): c.-303_-291delCACACACACACACinsGAGAG indel Uncertain significance rs886047988 GRCh37 Chromosome 11, 128761324: 128761336
20 KCNJ5 NM_000890.4(KCNJ5): c.-303_-291delCACACACACACACinsGAGAG indel Uncertain significance rs886047988 GRCh38 Chromosome 11, 128891429: 128891441
21 KCNJ5 NM_000890.4(KCNJ5) indel Uncertain significance rs886047989 GRCh37 Chromosome 11, 128761324: 128761336
22 KCNJ5 NM_000890.4(KCNJ5) indel Uncertain significance rs886047989 GRCh38 Chromosome 11, 128891429: 128891441
23 KCNJ5 NM_000890.4(KCNJ5): c.-301_-291delCACACACACACinsG indel Uncertain significance rs886047990 GRCh37 Chromosome 11, 128761326: 128761336
24 KCNJ5 NM_000890.4(KCNJ5): c.-301_-291delCACACACACACinsG indel Uncertain significance rs886047990 GRCh38 Chromosome 11, 128891431: 128891441
25 KCNJ5 NM_000890.4(KCNJ5) indel Uncertain significance rs886047991 GRCh37 Chromosome 11, 128761326: 128761336
26 KCNJ5 NM_000890.4(KCNJ5) indel Uncertain significance rs886047991 GRCh38 Chromosome 11, 128891431: 128891441
27 KCNJ5 NM_000890.4(KCNJ5): c.-296_-295insGAGAGA insertion Uncertain significance rs886047994 GRCh37 Chromosome 11, 128761331: 128761332
28 KCNJ5 NM_000890.4(KCNJ5): c.-296_-295insGAGAGA insertion Uncertain significance rs886047994 GRCh38 Chromosome 11, 128891436: 128891437
29 KCNJ5 NM_000890.4(KCNJ5): c.-295_-291delCACACinsGAGAGAGAGAGAG indel Uncertain significance rs886047995 GRCh37 Chromosome 11, 128761332: 128761336
30 KCNJ5 NM_000890.4(KCNJ5): c.-295_-291delCACACinsGAGAGAGAGAGAG indel Uncertain significance rs886047995 GRCh38 Chromosome 11, 128891437: 128891441
31 KCNJ5 NM_000890.4(KCNJ5) indel Uncertain significance rs886047995 GRCh37 Chromosome 11, 128761332: 128761336
32 KCNJ5 NM_000890.4(KCNJ5) indel Uncertain significance rs886047995 GRCh38 Chromosome 11, 128891437: 128891441
33 KCNJ5 NM_000890.4(KCNJ5): c.-293C> G single nucleotide variant Uncertain significance rs376640553 GRCh37 Chromosome 11, 128761334: 128761334
34 KCNJ5 NM_000890.4(KCNJ5): c.-293C> G single nucleotide variant Uncertain significance rs376640553 GRCh38 Chromosome 11, 128891439: 128891439
35 KCNJ5 NM_000890.4(KCNJ5): c.-293_-291delCACinsGAGAGAGAGAGAGAGAG indel Uncertain significance rs886047998 GRCh38 Chromosome 11, 128891439: 128891441
36 KCNJ5 NM_000890.4(KCNJ5): c.-293_-291delCACinsGAGAGAGAGAGAGAGAG indel Uncertain significance rs886047998 GRCh37 Chromosome 11, 128761334: 128761336
37 KCNJ5 NM_000890.4(KCNJ5): c.-291_-288delCAGA deletion Uncertain significance rs886048001 GRCh38 Chromosome 11, 128891441: 128891444
38 KCNJ5 NM_000890.4(KCNJ5): c.-291_-288delCAGA deletion Uncertain significance rs886048001 GRCh37 Chromosome 11, 128761336: 128761339
39 KCNJ5 NM_000890.4(KCNJ5): c.-291_-286delCAGAGA deletion Uncertain significance rs886048002 GRCh38 Chromosome 11, 128891441: 128891446
40 KCNJ5 NM_000890.4(KCNJ5): c.-291_-286delCAGAGA deletion Uncertain significance rs886048002 GRCh37 Chromosome 11, 128761336: 128761341
41 KCNJ5 NM_000890.4(KCNJ5): c.-291delCinsGAGAGAGAG indel Uncertain significance rs886048003 GRCh37 Chromosome 11, 128761336: 128761336
42 KCNJ5 NM_000890.4(KCNJ5): c.-291delCinsGAGAGAGAG indel Uncertain significance rs886048003 GRCh38 Chromosome 11, 128891441: 128891441
43 KCNJ5 NM_000890.4(KCNJ5): c.-285G> C single nucleotide variant Uncertain significance rs886048006 GRCh37 Chromosome 11, 128761342: 128761342
44 KCNJ5 NM_000890.4(KCNJ5): c.-285G> C single nucleotide variant Uncertain significance rs886048006 GRCh38 Chromosome 11, 128891447: 128891447
45 KCNJ5 NM_000890.4(KCNJ5): c.-253G> T single nucleotide variant Uncertain significance rs886048009 GRCh37 Chromosome 11, 128761374: 128761374
46 KCNJ5 NM_000890.4(KCNJ5): c.-253G> T single nucleotide variant Uncertain significance rs886048009 GRCh38 Chromosome 11, 128891479: 128891479
47 KCNJ5 NM_000890.3(KCNJ5): c.800G> A (p.Arg267His) single nucleotide variant Uncertain significance rs886048010 GRCh37 Chromosome 11, 128781968: 128781968
48 KCNJ5 NM_000890.3(KCNJ5): c.800G> A (p.Arg267His) single nucleotide variant Uncertain significance rs886048010 GRCh38 Chromosome 11, 128912073: 128912073
49 KCNJ5 NM_000890.4(KCNJ5): c.*34G> T single nucleotide variant Likely benign rs116494206 GRCh37 Chromosome 11, 128786660: 128786660
50 KCNJ5 NM_000890.4(KCNJ5): c.*34G> T single nucleotide variant Likely benign rs116494206 GRCh38 Chromosome 11, 128916765: 128916765

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
11.7 AGTR1 CACNA1H CYP11B1 CYP11B2 KCNJ5
2
Show member pathways
11.66 AGTR1 CACNA1H CYP11B1 MEN1
3
Show member pathways
10.48 CYP11B1 CYP11B2

GO Terms for Familial Hyperaldosteronism

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

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.61 CACNA1H CLCN2 KCNJ5
2 cellular response to hormone stimulus GO:0032870 9.5 CACNA1H CYP11B1 CYP11B2
3 sterol metabolic process GO:0016125 9.46 CYP11B1 CYP11B2
4 cellular response to peptide hormone stimulus GO:0071375 9.43 CYP11B1 CYP11B2 MEN1
5 C21-steroid hormone biosynthetic process GO:0006700 9.4 CYP11B1 CYP11B2
6 glucocorticoid biosynthetic process GO:0006704 9.37 CYP11B1 CYP11B2
7 cellular response to potassium ion GO:0035865 9.33 CACNA1H CYP11B1 CYP11B2
8 aldosterone biosynthetic process GO:0032342 9.13 CACNA1H CYP11B1 CYP11B2
9 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 corticosterone 18-monooxygenase activity GO:0047783 8.96 CYP11B1 CYP11B2
2 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
Content
Loading form....