FH
MCID: FML156
MIFTS: 48

Familial Hyperaldosteronism (FH) malady

Genetic diseases, Endocrine diseases, Rare diseases, Cancer diseases categories
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Summaries for Familial Hyperaldosteronism

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Genetics Home Reference:21 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 glucocorticoid-remediable aldosteronism and low renin hypertension. An important gene associated with Familial Hyperaldosteronism is KCNJ5 (potassium inwardly-rectifying channel, subfamily J, member 5), and among its related pathways are Steroid hormone biosynthesis and superpathway of steroid hormone biosynthesis. The compounds 19-Oxo-deoxycorticosterone and 19-oic-deoxycorticosterone have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and adrenal gland, and related mouse phenotypes are renal/urinary system and hematopoietic system.

Aliases & Classifications for Familial Hyperaldosteronism

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Familial Hyperaldosteronism, Aliases & Descriptions:

Name: Familial Hyperaldosteronism 21 62
Familial Primary Aldosteronism 21
Hyperaldosteronism, Familial 21
 
Hereditary Aldosteronism 21
Fh 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Endocrine diseases


Related Diseases for Familial Hyperaldosteronism

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Diseases in the Hyperaldosteronism, Familial, Type Iii family:

Hyperaldosteronism Familial Hyperaldosteronism Type 2
familial hyperaldosteronism

Diseases related to Familial Hyperaldosteronism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1glucocorticoid-remediable aldosteronism30.5REN, POMC, CYP11B1, CYP11B2
2low renin hypertension30.5CYP11B2, REN
3hyperaldosteronism30.5AGTR1, REN, POMC, KCNJ5, CYP11B1, CYP11B2
4hypertension30.0CYP11B2, CYP11B1, POMC, REN, AGTR1
5adenoma29.5CYP11B2, CYP11B1, KCNJ5, PMS2, POMC, REN
6familial hypercholesterolemia10.7
7hypercholesterolemia10.7
8hereditary leiomyomatosis and renal cell cancer10.6
9fumarate hydratase deficiency10.6
10leiomyomatosis10.5
11familial hyperaldosteronism type 210.5
12myocardial stunning10.4KCNJ5
13acute adrenal insufficiency10.4POMC
14leiomyoma10.4
15fibromuscular dysplasia10.3REN
16portal hypertension10.3REN
17papillary renal cell carcinoma10.3
18renal cell carcinoma10.3
19leiomyosarcoma10.3
20uterine fibroid10.3
21floating-harbor syndrome10.3
22hyperlipidemia type 310.3
23hyperaldosteronism, familial, type iii10.2
24multiple cutaneous and uterine leiomyomas10.2
25liddle syndrome10.2CYP11B2, REN
26precocious puberty10.1POMC, CYP11B1
27adrenocortical carcinoma10.1CYP11B2, CYP11B1, POMC
28prostate cancer10.1
29myoma10.1
30cystadenoma10.1
31cutaneous leiomyosarcoma10.1
32gastric leiomyoma10.1
33renal clear cell carcinoma10.1
34polyhydramnios10.1
35kidney cancer10.1
36prostatitis10.1
37familial renal cell carcinoma10.1
38cerebral atrophy10.1
39retinoblastoma10.1
40endotheliitis10.1
41hypoaldosteronism10.0REN, POMC, CYP11B2
42hypokalemia10.0REN, POMC, CYP11B2
43addison's disease10.0REN, POMC, CYP11B2
44renal tubular dysgenesis10.0REN, AGTR1
45renovascular hypertension10.0AGTR1, REN
46atherosclerosis10.0
47charcot-marie-tooth disease10.0
48follicular lymphoma10.0
49klinefelter's syndrome10.0
50breast cancer10.0

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



Diseases related to familial hyperaldosteronism

Symptoms for Familial Hyperaldosteronism

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Drugs & Therapeutics for Familial Hyperaldosteronism

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Drug clinical trials:

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Search NIH Clinical Center for Familial Hyperaldosteronism

Genetic Tests for Familial Hyperaldosteronism

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Anatomical Context for Familial Hyperaldosteronism

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MalaCards organs/tissues related to Familial Hyperaldosteronism:

32
Heart, Kidney, Adrenal gland, Testes, Endothelial

Animal Models for Familial Hyperaldosteronism or affiliated genes

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MGI Mouse Phenotypes related to Familial Hyperaldosteronism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5CYP11B2, CYP11B1, POMC, REN, AGTR1
2MP:00053978.1REN, POMC, GNA12, PMS2, CYP11B1
3MP:00053877.5CYP11B1, PMS2, GNA12, POMC, REN, AGTR1
4MP:00053857.4AGTR1, REN, POMC, GNA12, KCNJ5, CYP11B1
5MP:00107687.2CYP11B2, PMS2, GNA12, POMC, REN, AGTR1
6MP:00053767.2CYP11B2, CYP11B1, PMS2, GNA12, POMC, REN

Publications for Familial Hyperaldosteronism

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Articles related to Familial Hyperaldosteronism:

(show all 43)
idTitleAuthorsYear
1
Pregnancy normalized familial hyperaldosteronism type I: a novel role for progesterone? (24943290)
2014
2
Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature. (24819081)
2014
3
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III. (24037882)
2013
4
The prevalence of familial hyperaldosteronism in apparently sporadic primary aldosteronism in Germany: a single center experience. (22274719)
2012
5
KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. (22203740)
2012
6
Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism. (22447138)
2012
7
Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II. (20927129)
2011
8
A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I. (20634641)
2011
9
Is familial hyperaldosteronism underdiagnosed in hypertensive children? (21502569)
2011
10
Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation. (21502562)
2011
11
Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms). (21876069)
2011
12
Familial hyperaldosteronism I-III. (20131203)
2010
13
A mother/daughter case of familial hyperaldosteronism. (20865750)
2010
14
Elevated serum interleukin 6 levels in normotensive individuals with familial hyperaldosteronism type 1. (19221206)
2009
15
Familial hyperaldosteronism type 1 in pregnancy. (19356193)
2009
16
Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families. (18622235)
2008
17
Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. (18307725)
2008
18
A new form of hereditary primary aldosteronism: familial hyperaldosteronism type III. (18685118)
2008
19
Subclinical endothelial inflammation markers in a family with type I familial hyperaldosteronism caused by a de novo mutation]. (19030657)
2008
20
No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II. (17121540)
2006
21
Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity. (16003173)
2005
22
Evidence for abnormal left ventricular structure and function in normotensive individuals with familial hyperaldosteronism type I. (15941863)
2005
23
Retention of heterozygosity at chromosome 7p22 and 11q13 in aldosterone-producing tumours of patients with familial hyperaldosteronism not remediable by glucocorticoids. (15175634)
2004
24
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
25
Familial hyperaldosteronism]. (15351948)
2004
26
New genetic insights in familial hyperaldosteronism. (12381543)
2002
27
Familial hyperaldosteronism. (11595502)
2001
28
A chimeric CYP11B1/CYP11B2 gene in glucocorticoid-insuppressible familial hyperaldosteronism. (11453962)
2001
29
Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. (10999827)
2000
30
Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance. (10852446)
2000
31
A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). (11073536)
2000
32
Familial hyperaldosteronism. (11004715)
2000
33
Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I. (10566645)
1999
34
Linkage analysis of familial hyperaldosteronism type II--absence of linkage to the gene encoding the angiotensin II receptor type 1. (9506777)
1998
35
Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. (9745430)
1998
36
Evidence for persistent dysfunction of wild-type aldosterone synthase gene in glucocorticoid-treated familial hyperaldosteronism type I. (9488230)
1997
37
In familial hyperaldosteronism type I, hybrid gene-induced aldosterone production dominates that induced by wild-type genes. (9360524)
1997
38
A PCR-based method of screening individuals of all ages, from neonates to the elderly, for familial hyperaldosteronism type I. (9483237)
1997
39
A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. (7864844)
1995
40
Hybrid gene or hybrid steroids in the detection and screening for familial hyperaldosteronism type I. (8582097)
1995
41
Clinical, biochemical and genetic approaches to the detection of familial hyperaldosteronism type I. (8903619)
1995
42
Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism. (1521363)
1992
43
Familial hyperaldosteronism, not suppressed by dexamethasone. (7119083)
1982

Variations for Familial Hyperaldosteronism

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Expression for genes affiliated with Familial Hyperaldosteronism

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Expression patterns in normal tissues for genes affiliated with Familial Hyperaldosteronism

Search GEO for disease gene expression data for Familial Hyperaldosteronism.

Pathways for genes affiliated with Familial Hyperaldosteronism

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Pathways related to Familial Hyperaldosteronism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism37
9.8CYP11B1, CYP11B2
2
Show member pathways
estradiol biosynthesis II37
androgen biosynthesis37
estradiol biosynthesis I37
progesterone biosynthesis37
9.8CYP11B1, CYP11B2
3
Show member pathways
9.4CYP11B2, CYP11B1, POMC
4
Show member pathways
9.4POMC, CYP11B1, CYP11B2
5
Show member pathways
9.4POMC, CYP11B1, CYP11B2
6
Show member pathways
9.2AGTR1, REN, CYP11B2
7
Show member pathways
8.9KCNJ5, GNA12, POMC
8
Show member pathways
8.8AGTR1, GNA12, KCNJ5
9
Show member pathways
8.7GNA12, POMC, AGTR1
10
Show member pathways
8.7AGTR1, REN, GNA12

Compounds for genes affiliated with Familial Hyperaldosteronism

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Compounds related to Familial Hyperaldosteronism according to GeneCards/GeneDecks:

(show top 50)    (show all 111)
idCompoundScoreTop Affiliating Genes
119-Oxo-deoxycorticosterone2410.1CYP11B1, CYP11B2
219-oic-deoxycorticosterone2410.1CYP11B2, CYP11B1
318-oxocortisol4410.1CYP11B2, CYP11B1
419-Hydroxydeoxycorticosterone2410.1CYP11B2, CYP11B1
518-hydroxydeoxycorticosterone4410.1CYP11B2, CYP11B1
618-hydroxycortisol4410.1CYP11B1, CYP11B2
711beta-Hydroxyprogesterone249.9CYP11B2, CYP11B1
8tetrahydroaldosterone449.9REN, CYP11B2
921-deoxycortisol44 2410.8CYP11B1, POMC, CYP11B2
10etomidate44 1110.8CYP11B1, POMC, CYP11B2
11cortisol28 2410.8POMC, CYP11B2, CYP11B1
1211b-Hydroxyprogesterone249.8CYP11B2, CYP11B1
13metyrapone44 61 1111.8POMC, CYP11B1, CYP11B2
1411b-Hydroxyandrost-4-ene-3,17-dione249.7CYP11B2, CYP11B1
15metoclopramide44 50 1111.7REN, CYP11B2, CYP11B1
16fludrocortisone44 28 1111.7POMC, CYP11B2, REN
17aldosterone28 24 1111.7AGTR1, CYP11B1, CYP11B2
183beta-hydroxysteroid449.6CYP11B1, CYP11B2, POMC
19eplerenone44 61 28 1112.6REN, CYP11B2, AGTR1
20benazepril44 50 1111.6REN, AGTR1, CYP11B2
21hydralazine44 50 1111.5CYP11B2, AGTR1, REN
22atenolol44 50 28 24 1113.5AGTR1, REN, CYP11B2
23irbesartan44 28 50 1112.5CYP11B2, AGTR1, REN
2411b,17a,21-Trihydroxypreg-nenolone249.5CYP11B2, CYP11B1
25candesartan44 50 28 1112.5AGTR1, CYP11B2, REN
26hydrochlorothiazide44 28 50 24 1113.5REN, AGTR1, CYP11B2
27nitroglycerin44 1110.5REN, KCNJ5, AGTR1
2818-hydroxycorticosterone44 2410.4REN, CYP11B2, CYP11B1, POMC
29ang ii449.4AGTR1, REN, CYP11B2
30doca449.4CYP11B2, REN, POMC, CYP11B1
3111 deoxycortisol449.4POMC, CYP11B1, CYP11B2, REN
3217-hydroxyprogesterone44 2410.4POMC, REN, CYP11B1, CYP11B2
33methacholine44 50 1111.4KCNJ5, AGTR1, REN
34androstenedione44 2410.4POMC, REN, CYP11B1, CYP11B2
35corticosterone44 61 2411.3POMC, CYP11B1, CYP11B2, REN
36furosemide44 61 28 50 24 1114.3AGTR1, POMC, REN
37hydrocortisone44 2 61 1112.3REN, CYP11B2, CYP11B1, POMC
38cortisone44 2410.3CYP11B1, AGTR1, POMC, CYP11B2
39nifedipine44 28 50 1112.2AGTR1, CYP11B2, KCNJ5, REN
40clonidine44 50 28 1112.2POMC, REN, AGTR1
41potassium44 24 1110.9AGTR1, REN, KCNJ5, CYP11B2, CYP11B1
42haloperidol44 50 28 2 1112.9CYP11B2, KCNJ5, POMC, AGTR1, REN
43sodium44 249.9REN, CYP11B2, AGTR1, KCNJ5, CYP11B1
44spironolactone44 61 28 50 1112.9POMC, CYP11B2, CYP11B1, AGTR1, REN
4511beta-hydroxysteroid448.9CYP11B1, CYP11B2, POMC, AGTR1, REN
46acth448.9REN, AGTR1, POMC, CYP11B1, CYP11B2
47norepinephrine44 24 1110.8REN, AGTR1, POMC, KCNJ5, CYP11B2
48forskolin44 50 1110.8POMC, AGTR1, CYP11B1, REN, CYP11B2
49dexamethasone44 50 28 1111.6AGTR1, CYP11B2, CYP11B1, POMC, REN
50arginine448.4REN, AGTR1, POMC, CYP11B1, CYP11B2

GO Terms for genes affiliated with Familial Hyperaldosteronism

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Biological processes related to Familial Hyperaldosteronism according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1aldosterone biosynthetic processGO:03234210.0CYP11B1, CYP11B2
2cortisol biosynthetic processGO:03465110.0CYP11B1, CYP11B2
3mineralocorticoid biosynthetic processGO:00670510.0CYP11B1, CYP11B2
4cellular response to potassium ionGO:0358659.9CYP11B2, CYP11B1
5C21-steroid hormone biosynthetic processGO:0067009.9CYP11B1, CYP11B2
6sterol metabolic processGO:0161259.8CYP11B1, CYP11B2
7steroid metabolic processGO:0082029.8CYP11B1, CYP11B2
8cellular response to hormone stimulusGO:0328709.7CYP11B2, CYP11B1
9renin-angiotensin regulation of aldosterone productionGO:0020189.7AGTR1, REN
10regulation of blood pressureGO:0082179.5CYP11B1, POMC, REN
11Rho protein signal transductionGO:0072668.8AGTR1, GNA12

Molecular functions related to Familial Hyperaldosteronism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1steroid 11-beta-monooxygenase activityGO:0045079.8CYP11B1, CYP11B2

Products for genes affiliated with Familial Hyperaldosteronism

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  • Antibodies
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Sources for Familial Hyperaldosteronism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet