MCID: FML156
MIFTS: 34

Familial Hyperaldosteronism malady

Genetic category

Summaries for Familial Hyperaldosteronism

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21Genetics Home Reference, 33MalaCards
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Genetics Home Reference:21 Familial hyperaldosteronism is a condition in which the adrenal glands, which are small glands located on top of each kidney, produce excessive amounts of the hormone aldosterone. Aldosterone is sometimes called the salt-retaining hormone because it regulates the amount of salt retained by the kidneys. Excess aldosterone leads to increased retention of salt, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may experience 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 is related to glucocorticoid-remediable aldosteronism and familial hyperaldosteronism type 2. An important gene associated with Familial Hyperaldosteronism is KCNJ5 (potassium inwardly-rectifying channel, subfamily J, member 5), and among its related pathways are Mineralocorticoid biosynthesis and Metabolism of steroid hormones and vitamin D. The compounds 18-hydroxycortisol and 18-oxocortisol 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 immune system.

Aliases & Classifications for Familial Hyperaldosteronism

Sources:
21Genetics Home Reference
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

familial hyperaldosteronism 21


Related Diseases for Familial Hyperaldosteronism

Sources:
17GeneCards, 18GeneDecks
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Diseases in the familial hyperaldosteronism type 2 family:

hyperaldosteronism hyperaldosteronism, familial, type iii
familial hyperaldosteronism

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1glucocorticoid-remediable aldosteronism30.5POMC, CYP11B1, CYP11B2, REN
2familial hyperaldosteronism type 210.4
3familial hypertension10.3
4familial retinoblastoma10.0
5hyperaldosteronism, familial, type iii10.0
6myocardial stunning10.0KCNJ5
7fibromuscular dysplasia10.0REN
8coronary heart disease10.0AGTR1
9hypertensive heart disease10.0AGTR1
10diabetes insipidus10.0POMC
11polycystic ovary syndrome10.0POMC
12acute myocardial infarction10.0KCNJ5, AGTR1
13hyperandrogenism10.0POMC
14cor pulmonale10.0AGTR1
15acromegaly10.0POMC
16low renin hypertension10.0CYP11B2, REN
17mitral valve prolapse10.0AGTR1
18hypoglycemia10.0POMC, KCNJ5
19renal tubular dysgenesis10.0AGTR1, REN
20renovascular hypertension10.0REN, AGTR1
21nephrotic syndrome10.0POMC
22precocious puberty10.0POMC, CYP11B1
23breast cancer10.0PMS2, KCNJ5
24proteinuria10.0REN, CYP11B2, AGTR1
25congestive heart failure10.0AGTR1, CYP11B2, REN
26hypokalemia10.0POMC, CYP11B2, REN
27hypoaldosteronism10.0REN, CYP11B2, POMC
28pre-eclampsia10.0REN, CYP11B2, AGTR1
29cadasil10.0REN, CYP11B1, AGTR1, KCNJ5
30addison's disease10.0REN, CYP11B2, POMC
31essential hypertension10.0AGTR1, CYP11B1, CYP11B2, REN
32congenital heart defect10.0KCNJ5, AGTR1, CYP11B2, REN
33hypertrophy of breast10.0KCNJ5, AGTR1, CYP11B2, REN
34chronic kidney failure10.0REN, CYP11B2, AGTR1
35myocardial infarction10.0KCNJ5, AGTR1, CYP11B2, REN
36congenital adrenal hyperplasia10.0REN, CYP11B2, CYP11B1, POMC
37cushing's syndrome10.0REN, CYP11B2, CYP11B1, POMC
38adrenocortical carcinoma10.0AGTR1, POMC, CYP11B1, CYP11B2
39adrenal adenoma10.0REN, CYP11B1, POMC, AGTR1
40conn's syndrome10.0AGTR1, POMC, CYP11B1, CYP11B2, REN
41hypertension10.0AGTR1, POMC, CYP11B1, CYP11B2, REN
42adenoma10.0PMS2, KCNJ5, POMC, CYP11B1, CYP11B2, REN
43hyperaldosteronism10.0REN, KCNJ5, AGTR1, POMC, CYP11B1, CYP11B2

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



Diseases related to familial hyperaldosteronism

Clinical Features for Familial Hyperaldosteronism

Drugs & Therapeutics for Familial Hyperaldosteronism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Anatomical Context for Familial Hyperaldosteronism

Sources:
33MalaCards
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MalaCards organs/tissues related to Familial Hyperaldosteronism:

33
Heart, Kidney, Adrenal gland, Endothelial

Animal Models for Familial Hyperaldosteronism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Familial Hyperaldosteronism

Sources:
51PubMed
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Articles related to Familial Hyperaldosteronism:

(show all 43)
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
Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism. (17524034)
2007
19
No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II. (17121540)
2006
20
Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity. (16003173)
2005
21
Evidence for abnormal left ventricular structure and function in normotensive individuals with familial hyperaldosteronism type I. (15941863)
2005
22
Retention of heterozygosity at chromosome 7p22 and 11q13 in aldosterone-producing tumours of patients with familial hyperaldosteronism not remediable by glucocorticoids. (15175634)
2004
23
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
24
Familial hyperaldosteronism]. (15351948)
2004
25
New genetic insights in familial hyperaldosteronism. (12381543)
2002
26
Familial hyperaldosteronism. (11595502)
2001
27
A chimeric CYP11B1/CYP11B2 gene in glucocorticoid-insuppressible familial hyperaldosteronism. (11453962)
2001
28
Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. (10999827)
2000
29
Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance. (10852446)
2000
30
A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). (11073536)
2000
31
Familial hyperaldosteronism. (11004715)
2000
32
Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I. (10566645)
1999
33
Linkage analysis of familial hyperaldosteronism type II--absence of linkage to the gene encoding the angiotensin II receptor type 1. (9506777)
1998
34
Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. (9745430)
1998
35
Evidence for persistent dysfunction of wild-type aldosterone synthase gene in glucocorticoid-treated familial hyperaldosteronism type I. (9488230)
1997
36
In familial hyperaldosteronism type I, hybrid gene-induced aldosterone production dominates that induced by wild-type genes. (9360524)
1997
37
A PCR-based method of screening individuals of all ages, from neonates to the elderly, for familial hyperaldosteronism type I. (9483237)
1997
38
A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. (7864844)
1995
39
Hybrid gene or hybrid steroids in the detection and screening for familial hyperaldosteronism type I. (8582097)
1995
40
Clinical, biochemical and genetic approaches to the detection of familial hyperaldosteronism type I. (8903619)
1995
41
Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism. (1521363)
1992
42
Familial hyperaldosteronism, not suppressed by dexamethasone. (7119083)
1982
43
Familial, dexamethasone-suppressible, normokalemic hyperaldosteronism. (6987607)
1980

Genetic Variations for Familial Hyperaldosteronism

Expression for genes affiliated with Familial Hyperaldosteronism

Sources:
1BioGPS, 15Gene 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

Sources:
54Reactome, 38NCBI BioSystems Database, 50PharmGKB, 52QIAGEN
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Compounds for genes affiliated with Familial Hyperaldosteronism

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 50PharmGKB, 2BitterDB
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Compounds related to Familial Hyperaldosteronism according to GeneCards/GeneDecks:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
118-hydroxycortisol4510.2CYP11B1, CYP11B2
218-oxocortisol4510.1CYP11B2, CYP11B1
318-hydroxydeoxycorticosterone4510.1CYP11B2, CYP11B1
4mitotane45 1110.9POMC, CYP11B1
5tetrahydroaldosterone459.9CYP11B2, REN
6deoxycorticosterone29 2410.9CYP11B1, CYP11B2
7pcb 126459.8CYP11B1, CYP11B2
8aldosterone29 11 2411.8CYP11B1, CYP11B2, AGTR1
921-deoxycortisol45 2410.8CYP11B1, POMC, CYP11B2
10aliskiren45 1110.8REN, AGTR1
11etomidate45 1110.8POMC, CYP11B1, CYP11B2
12cortisol29 2410.8POMC, CYP11B2, CYP11B1
13metyrapone60 45 1111.7CYP11B1, POMC, CYP11B2
14lacidipine459.7REN, AGTR1
15metoclopramide45 1110.7REN, CYP11B2, CYP11B1
163beta-hydroxysteroid459.6CYP11B2, CYP11B1, POMC
17eplerenone45 60 29 1112.6CYP11B2, REN, AGTR1
18atenolol45 29 50 11 2413.6CYP11B2, AGTR1, REN
19hydralazine45 50 1111.6REN, CYP11B2, AGTR1
20irbesartan45 29 50 1112.6CYP11B2, REN, AGTR1
21fludrocortisone45 29 1111.6REN, CYP11B2, POMC
22nitroglycerin45 1110.6KCNJ5, REN, AGTR1
23hydrochlorothiazide45 50 29 11 2413.6AGTR1, CYP11B2, REN
24benazepril45 1110.5REN, AGTR1
25methacholine45 1110.5KCNJ5, AGTR1, REN
26ang ii459.5CYP11B2, REN, AGTR1
27saralasin459.4AGTR1, REN
28furosemide45 50 60 29 11 2414.4AGTR1, REN, POMC
29cortisone45 2410.4CYP11B1, CYP11B2, POMC, AGTR1
30clonidine45 29 1111.3AGTR1, REN, POMC
31losartan45 50 29 1112.3CYP11B2, REN, AGTR1
3218-hydroxycorticosterone45 2410.3CYP11B1, REN, CYP11B2, POMC
3311 deoxycortisol459.3POMC, CYP11B2, REN, CYP11B1
34doca459.3REN, CYP11B1, POMC, CYP11B2
3517-hydroxyprogesterone45 2410.3REN, CYP11B2, CYP11B1, POMC
36nifedipine45 50 29 1112.3AGTR1, REN, CYP11B2, KCNJ5
37androstenedione45 2410.2CYP11B1, POMC, REN, CYP11B2
38eprosartan45 29 1111.2AGTR1, REN
39corticosterone45 60 2411.2POMC, REN, CYP11B1, CYP11B2
40hydrocortisone45 2 60 1112.2CYP11B2, POMC, REN, CYP11B1
41potassium45 11 2411.0REN, KCNJ5, AGTR1, CYP11B1, CYP11B2
42sodium45 249.9REN, KCNJ5, AGTR1, CYP11B2, CYP11B1
43haloperidol45 29 2 50 1112.9AGTR1, CYP11B2, REN, POMC, KCNJ5
44spironolactone50 45 60 29 1112.9REN, CYP11B2, AGTR1, CYP11B1, POMC
4511beta-hydroxysteroid458.9POMC, AGTR1, CYP11B1, REN, CYP11B2
46acth458.9REN, CYP11B1, POMC, AGTR1, CYP11B2
47norepinephrine45 11 2410.8REN, CYP11B2, POMC, AGTR1, KCNJ5
48forskolin45 50 1110.8AGTR1, CYP11B2, CYP11B1, POMC, REN
49dexamethasone45 50 29 1111.6REN, CYP11B2, CYP11B1, POMC, AGTR1
50arginine458.6CYP11B1, CYP11B2, POMC, AGTR1, REN

GO Terms for genes affiliated with Familial Hyperaldosteronism

Sources:
16Gene Ontology
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Biological processes related to Familial Hyperaldosteronism according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1aldosterone biosynthetic processGO:03234210.0CYP11B2, CYP11B1
2cortisol biosynthetic processGO:03465110.0CYP11B2, CYP11B1
3cellular response to potassium ionGO:0358659.9CYP11B1, CYP11B2
4mineralocorticoid biosynthetic processGO:0067059.9CYP11B1, CYP11B2
5C21-steroid hormone biosynthetic processGO:0067009.8CYP11B2, CYP11B1
6renin-angiotensin regulation of aldosterone productionGO:0020189.7AGTR1, REN
7sterol metabolic processGO:0161259.7CYP11B1, CYP11B2
8Rho protein signal transductionGO:0072669.5AGTR1, GNA12
9cellular response to hormone stimulusGO:0328709.5CYP11B2, CYP11B1
10regulation of blood pressureGO:0082179.3REN, CYP11B1, POMC

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

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

Products for genes affiliated with Familial Hyperaldosteronism

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Sources for Familial Hyperaldosteronism

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet