FH
MCID: FML156
MIFTS: 45

Familial Hyperaldosteronism (FH) malady

Genetic diseases, Endocrine diseases, Rare diseases, Cancer diseases categories

Summaries for Familial Hyperaldosteronism

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22Genetics Home Reference, 34MalaCards
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Genetics Home Reference:22 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: Familial Hyperaldosteronism, also known as familial primary aldosteronism, is related to hyperaldosteronism and glucocorticoid-remediable aldosteronism. 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 testes and endothelial, and related mouse phenotypes are renal/urinary system and hematopoietic system.

Aliases & Classifications for Familial Hyperaldosteronism

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22Genetics Home Reference
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Classifications:

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


Aliases & Descriptions:

familial hyperaldosteronism 22
familial primary aldosteronism 22
hyperaldosteronism, familial 22
hereditary aldosteronism 22
fh 22


Related Diseases for Familial Hyperaldosteronism

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18GeneCards, 19GeneDecks
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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 72)
idRelated DiseaseScoreTop Affiliating Genes
1hyperaldosteronism31.1CYP11B1, KCNJ5, POMC, AGTR1, REN, CYP11B2
2glucocorticoid-remediable aldosteronism30.6POMC, CYP11B2, REN, CYP11B1
3hypertension30.5CYP11B2, POMC, REN, AGTR1, CYP11B1
4low renin hypertension30.2REN, CYP11B2
5adenoma29.9CYP11B1, POMC, KCNJ5, PMS2, CYP11B2, REN
6familial hypercholesterolemia10.7
7hypercholesterolemia10.6
8hereditary leiomyomatosis and renal cell cancer10.6
9fumarate hydratase deficiency10.5
10leiomyomatosis10.5
11familial hyperaldosteronism type 210.5
12leiomyoma10.4
13papillary renal cell carcinoma10.3
14leiomyosarcoma10.3
15renal cell carcinoma10.3
16uterine fibroid10.3
17floating-harbor syndrome10.2
18hyperlipidemia type 310.2
19hyperaldosteronism, familial, type iii10.2
20multiple cutaneous and uterine leiomyomas10.2
21myocardial stunning10.1KCNJ5
22acute adrenal insufficiency10.1POMC
23myoma10.1
24cystadenoma10.1
25polyhydramnios10.1
26cutaneous leiomyosarcoma10.1
27gastric leiomyoma10.1
28renal clear cell carcinoma10.1
29kidney cancer10.1
30prostate cancer10.1
31prostatitis10.1
32familial renal cell carcinoma10.1
33cerebral atrophy10.1
34fibromuscular dysplasia10.1REN
35portal hypertension10.1REN
36retinoblastoma10.0
37endotheliitis10.0
38precocious puberty10.0POMC, CYP11B1
39adrenocortical carcinoma10.0POMC, CYP11B1, CYP11B2
40hypoaldosteronism10.0POMC, CYP11B2, REN
41hypokalemia10.0CYP11B2, REN, POMC
42addison's disease10.0POMC, REN, CYP11B2
43renal tubular dysgenesis10.0AGTR1, REN
44renovascular hypertension10.0AGTR1, REN
45congenital adrenal hyperplasia10.0CYP11B1, POMC, CYP11B2, REN
46cushing's syndrome10.0POMC, REN, CYP11B1, CYP11B2
47glomerulosclerosis10.0AGTR1, REN
48renal fibrosis10.0AGTR1, REN
49congestive heart failure10.0AGTR1, REN, CYP11B2
50proteinuria9.9AGTR1, CYP11B2, REN

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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Familial Hyperaldosteronism

Search CenterWatch for Familial Hyperaldosteronism

Genetic Tests for Familial Hyperaldosteronism

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Anatomical Context for Familial Hyperaldosteronism

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34MalaCards
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MalaCards organs/tissues related to Familial Hyperaldosteronism:

34
Testes, Endothelial

Animal Models for Familial Hyperaldosteronism or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Familial Hyperaldosteronism:

38
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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53PubMed
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Articles related to Familial Hyperaldosteronism:

(show all 40)
idTitleAuthorsYear
1
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III. (24037882)
2013
2
The prevalence of familial hyperaldosteronism in apparently sporadic primary aldosteronism in Germany: a single center experience. (22274719)
2012
3
KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. (22203740)
2012
4
Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism. (22447138)
2012
5
Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II. (20927129)
2011
6
A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I. (20634641)
2011
7
Is familial hyperaldosteronism underdiagnosed in hypertensive children? (21502569)
2011
8
Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation. (21502562)
2011
9
Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms). (21876069)
2011
10
Familial hyperaldosteronism I-III. (20131203)
2010
11
A mother/daughter case of familial hyperaldosteronism. (20865750)
2010
12
Elevated serum interleukin 6 levels in normotensive individuals with familial hyperaldosteronism type 1. (19221206)
2009
13
Familial hyperaldosteronism type 1 in pregnancy. (19356193)
2009
14
Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families. (18622235)
2008
15
Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. (18307725)
2008
16
A new form of hereditary primary aldosteronism: familial hyperaldosteronism type III. (18685118)
2008
17
Subclinical endothelial inflammation markers in a family with type I familial hyperaldosteronism caused by a de novo mutation]. (19030657)
2008
18
No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II. (17121540)
2006
19
Evidence for abnormal left ventricular structure and function in normotensive individuals with familial hyperaldosteronism type I. (15941863)
2005
20
Retention of heterozygosity at chromosome 7p22 and 11q13 in aldosterone-producing tumours of patients with familial hyperaldosteronism not remediable by glucocorticoids. (15175634)
2004
21
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
22
Familial hyperaldosteronism]. (15351948)
2004
23
New genetic insights in familial hyperaldosteronism. (12381543)
2002
24
Familial hyperaldosteronism. (11595502)
2001
25
A chimeric CYP11B1/CYP11B2 gene in glucocorticoid-insuppressible familial hyperaldosteronism. (11453962)
2001
26
Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. (10999827)
2000
27
Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance. (10852446)
2000
28
A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). (11073536)
2000
29
Familial hyperaldosteronism. (11004715)
2000
30
Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I. (10566645)
1999
31
Linkage analysis of familial hyperaldosteronism type II--absence of linkage to the gene encoding the angiotensin II receptor type 1. (9506777)
1998
32
Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. (9745430)
1998
33
Evidence for persistent dysfunction of wild-type aldosterone synthase gene in glucocorticoid-treated familial hyperaldosteronism type I. (9488230)
1997
34
In familial hyperaldosteronism type I, hybrid gene-induced aldosterone production dominates that induced by wild-type genes. (9360524)
1997
35
A PCR-based method of screening individuals of all ages, from neonates to the elderly, for familial hyperaldosteronism type I. (9483237)
1997
36
A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. (7864844)
1995
37
Hybrid gene or hybrid steroids in the detection and screening for familial hyperaldosteronism type I. (8582097)
1995
38
Clinical, biochemical and genetic approaches to the detection of familial hyperaldosteronism type I. (8903619)
1995
39
Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism. (1521363)
1992
40
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome, 52PharmGKB, 61Thomson Reuters, 54QIAGEN
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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 Metabolism39
9.8CYP11B1, CYP11B2
2
Show member pathways
estradiol biosynthesis II39
androgen biosynthesis39
estradiol biosynthesis I39
progesterone biosynthesis39
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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25HMDB, 46Novoseek, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 52PharmGKB, 3BitterDB
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Compounds related to Familial Hyperaldosteronism according to GeneCards/GeneDecks:

(show top 50)    (show all 111)
idCompoundScoreTop Affiliating Genes
119-Oxo-deoxycorticosterone2510.1CYP11B2, CYP11B1
219-oic-deoxycorticosterone2510.1CYP11B2, CYP11B1
319-Hydroxydeoxycorticosterone2510.1CYP11B2, CYP11B1
418-hydroxydeoxycorticosterone4610.1CYP11B2, CYP11B1
518-oxocortisol4610.1CYP11B1, CYP11B2
618-hydroxycortisol4610.1CYP11B1, CYP11B2
711beta-Hydroxyprogesterone259.9CYP11B2, CYP11B1
8tetrahydroaldosterone469.9REN, CYP11B2
921-deoxycortisol46 2510.8POMC, CYP11B1, CYP11B2
10etomidate46 1210.8POMC, CYP11B1, CYP11B2
11cortisol30 2510.8CYP11B2, CYP11B1, POMC
1211b-Hydroxyprogesterone259.8CYP11B2, CYP11B1
13metyrapone46 62 1211.8POMC, CYP11B1, CYP11B2
1411b-Hydroxyandrost-4-ene-3,17-dione259.7CYP11B2, CYP11B1
15metoclopramide46 52 1211.7CYP11B2, CYP11B1, REN
16fludrocortisone46 30 1211.7CYP11B2, POMC, REN
17aldosterone30 25 1211.7AGTR1, CYP11B1, CYP11B2
183beta-hydroxysteroid469.6CYP11B2, CYP11B1, POMC
19eplerenone46 62 30 1212.6CYP11B2, REN, AGTR1
20benazepril46 52 1211.6AGTR1, REN, CYP11B2
21hydralazine46 52 1211.5CYP11B2, REN, AGTR1
22atenolol46 52 30 25 1213.5CYP11B2, REN, AGTR1
23irbesartan46 30 52 1212.5AGTR1, REN, CYP11B2
2411b,17a,21-Trihydroxypreg-nenolone259.5CYP11B2, CYP11B1
25candesartan46 52 30 1212.5AGTR1, REN, CYP11B2
26hydrochlorothiazide46 30 52 25 1213.5CYP11B2, REN, AGTR1
27nitroglycerin46 1210.5AGTR1, REN, KCNJ5
2818-hydroxycorticosterone46 2510.4REN, POMC, CYP11B1, CYP11B2
29ang ii469.4AGTR1, REN, CYP11B2
30doca469.4CYP11B2, CYP11B1, POMC, REN
3111 deoxycortisol469.4CYP11B2, CYP11B1, POMC, REN
3217-hydroxyprogesterone46 2510.4CYP11B2, CYP11B1, POMC, REN
33methacholine46 52 1211.4KCNJ5, REN, AGTR1
34androstenedione46 2510.4CYP11B2, CYP11B1, POMC, REN
35corticosterone46 62 2511.3REN, POMC, CYP11B1, CYP11B2
36furosemide46 62 30 52 25 1214.3POMC, REN, AGTR1
37hydrocortisone46 3 62 1212.3REN, POMC, CYP11B1, CYP11B2
38cortisone46 2510.3CYP11B2, CYP11B1, POMC, AGTR1
39nifedipine46 30 52 1212.2CYP11B2, KCNJ5, REN, AGTR1
40clonidine46 52 30 1212.2POMC, REN, AGTR1
41potassium46 25 1210.9CYP11B2, CYP11B1, KCNJ5, REN, AGTR1
42haloperidol46 52 30 3 1212.9CYP11B2, KCNJ5, POMC, REN, AGTR1
43sodium46 259.9CYP11B2, CYP11B1, KCNJ5, REN, AGTR1
44spironolactone46 62 30 52 1212.9CYP11B2, CYP11B1, POMC, REN, AGTR1
4511beta-hydroxysteroid468.9CYP11B2, CYP11B1, POMC, REN, AGTR1
46acth468.9CYP11B2, CYP11B1, POMC, REN, AGTR1
47norepinephrine46 25 1210.8CYP11B2, KCNJ5, POMC, REN, AGTR1
48forskolin46 52 1210.8CYP11B2, CYP11B1, POMC, REN, AGTR1
49dexamethasone46 52 30 1211.6AGTR1, REN, POMC, CYP11B1, CYP11B2
50arginine468.4AGTR1, REN, POMC, CYP11B1, CYP11B2

GO Terms for genes affiliated with Familial Hyperaldosteronism

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17Gene Ontology
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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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Sources for Familial Hyperaldosteronism

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet