MCID: FML156
MIFTS: 35

Familial Hyperaldosteronism

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

Aliases & Classifications for Familial Hyperaldosteronism

MalaCards integrated aliases for Familial Hyperaldosteronism:

Name: Familial Hyperaldosteronism 24 28 69
Familial Primary Aldosteronism 24
Hyperaldosteronism, Familial 24
Hereditary Aldosteronism 24
Fh 24

Classifications:



External Ids:

UMLS 69 C3713420

Summaries for Familial Hyperaldosteronism

Genetics Home Reference : 24 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 CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1), 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)

Wikipedia : 72 Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are... more...

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 all 27)
# Related Disease Score Top Affiliating Genes
1 hyperaldosteronism, familial, type i 33.1 CYP11B1 CYP11B2
2 aldosterone-producing adenoma 29.9 CYP11B2 KCNJ5
3 conn's syndrome 27.7 AGTR1 CACNA1H CYP11B1 CYP11B2 KCNJ5 MEN1
4 hereditary leiomyomatosis and renal cell cancer 11.9
5 fumarase deficiency 11.9
6 hyperaldosteronism, familial, type iii 11.7
7 hyperaldosteronism, familial, type ii 11.7
8 hyperaldosteronism, familial, type iv 10.9
9 uterine corpus endometrial carcinoma 10.3 CYP11B1 CYP11B2
10 adrenal rest tumor 10.2 CYP11B1 CYP11B2
11 blood group, i system 10.1
12 aortic coarctation 10.1 AGTR1 CYP11B2
13 adrenal cortex disease 10.1 CYP11B1 CYP11B2 KCNJ5
14 adrenal gland disease 10.1 CYP11B1 CYP11B2 KCNJ5
15 myocardial stunning 10.0 AGTR1 KCNJ5
16 familial hypertension 10.0 AGTR1 CYP11B2
17 adrenocortical carcinoma, hereditary 9.9 CYP11B1 CYP11B2
18 hypertensive heart disease 9.9 AGTR1 CYP11B2
19 adrenal adenoma 9.7 CYP11B1 CYP11B2 MEN1
20 adenoma 9.7
21 endotheliitis 9.7
22 retinoblastoma 9.7
23 aging 9.7
24 cell type benign neoplasm 9.6 CYP11B2 KCNJ5 MEN1
25 endocrine organ benign neoplasm 9.5 CYP11B1 CYP11B2 KCNJ5 MEN1
26 organ system benign neoplasm 9.5 CYP11B1 CYP11B2 KCNJ5 MEN1
27 hypertension, essential 9.3 AGTR1 CYP11B1 CYP11B2 MEN1

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:

25 (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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.17 AGTR1 CACNA1H CYP11B1 CYP11B2 GNA12 KCNJ5

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 28

Anatomical Context for Familial Hyperaldosteronism

MalaCards organs/tissues related to Familial Hyperaldosteronism:

38
Heart, Adrenal Gland, Kidney, Testes, Endothelial

Publications for Familial Hyperaldosteronism

Articles related to Familial Hyperaldosteronism:

(show all 50)
# 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
Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3. ( 27793677 )
2017
4
Familial hyperaldosteronism type III. ( 28447626 )
2017
5
Evaluation of a Recently Established Test for Familial Hyperaldosteronism Type 1. ( 27923252 )
2016
6
A novel phenotype of familial hyperaldosteronism type III: Concurrence of aldosteronism and Cushing's syndrome. ( 27403928 )
2016
7
An Update on Familial Hyperaldosteronism. ( 26445452 )
2015
8
Pregnancy normalized familial hyperaldosteronism type I: a novel role for progesterone? ( 24943290 )
2014
9
Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature. ( 24819081 )
2014
10
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III. ( 24037882 )
2013
11
The prevalence of familial hyperaldosteronism in apparently sporadic primary aldosteronism in Germany: a single center experience. ( 22274719 )
2012
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
Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II. ( 20927129 )
2011
15
Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation. ( 21502562 )
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
Is familial hyperaldosteronism underdiagnosed in hypertensive children? ( 21502569 )
2011
19
Familial hyperaldosteronism I-III. ( 20131203 )
2010
20
A mother/daughter case of familial hyperaldosteronism. ( 20865750 )
2010
21
Elevated serum interleukin 6 levels in normotensive individuals with familial hyperaldosteronism type 1. ( 19221206 )
2009
22
Familial hyperaldosteronism type 1 in pregnancy. ( 19356193 )
2009
23
[Subclinical endothelial inflammation markers in a family with type I familial hyperaldosteronism caused by a de novo mutation]. ( 19030657 )
2008
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
A new form of hereditary primary aldosteronism: familial hyperaldosteronism type III. ( 18685118 )
2008
26
Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. ( 18307725 )
2008
27
No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II. ( 17121540 )
2006
28
Evidence for abnormal left ventricular structure and function in normotensive individuals with familial hyperaldosteronism type I. ( 15941863 )
2005
29
Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity. ( 16003173 )
2005
30
Retention of heterozygosity at chromosome 7p22 and 11q13 in aldosterone-producing tumours of patients with familial hyperaldosteronism not remediable by glucocorticoids. ( 15175634 )
2004
31
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
32
[Familial hyperaldosteronism]. ( 15351948 )
2004
33
New genetic insights in familial hyperaldosteronism. ( 12381543 )
2002
34
A chimeric CYP11B1/CYP11B2 gene in glucocorticoid-insuppressible familial hyperaldosteronism. ( 11453962 )
2001
35
Familial hyperaldosteronism. ( 11595502 )
2001
36
Familial hyperaldosteronism. ( 11004715 )
2000
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
Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I. ( 10566645 )
1999
41
Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. ( 9745430 )
1998
42
Linkage analysis of familial hyperaldosteronism type II--absence of linkage to the gene encoding the angiotensin II receptor type 1. ( 9506777 )
1998
43
Evidence for persistent dysfunction of wild-type aldosterone synthase gene in glucocorticoid-treated familial hyperaldosteronism type I. ( 9488230 )
1997
44
In familial hyperaldosteronism type I, hybrid gene-induced aldosterone production dominates that induced by wild-type genes. ( 9360524 )
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
A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. ( 7864844 )
1995
47
Clinical, biochemical and genetic approaches to the detection of familial hyperaldosteronism type I. ( 8903619 )
1995
48
Hybrid gene or hybrid steroids in the detection and screening for familial hyperaldosteronism type I. ( 8582097 )
1995
49
Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism. ( 1521363 )
1992
50
Familial hyperaldosteronism, not suppressed by dexamethasone. ( 7119083 )
1982

Variations for Familial Hyperaldosteronism

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
11.69 AGTR1 CACNA1H CYP11B1 CYP11B2 KCNJ5
2
Show member pathways
10.3 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 cellular response to hormone stimulus GO:0032870 9.43 CACNA1H CYP11B1 CYP11B2
2 sterol metabolic process GO:0016125 9.37 CYP11B1 CYP11B2
3 cellular response to potassium ion GO:0035865 9.33 CACNA1H CYP11B1 CYP11B2
4 C21-steroid hormone biosynthetic process GO:0006700 9.32 CYP11B1 CYP11B2
5 cortisol biosynthetic process GO:0034651 9.13 CACNA1H CYP11B1 CYP11B2
6 aldosterone biosynthetic process GO:0032342 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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