FH
MCID: FML156
MIFTS: 36

Familial Hyperaldosteronism (FH) malady

Genetic diseases category

Summaries for Familial Hyperaldosteronism

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21Genetics Home Reference, 32MalaCards
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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: Familial Hyperaldosteronism, also known as familial primary aldosteronism, is related to hyperaldosteronism and hypertension. 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-hydroxydeoxycorticosterone 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

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21Genetics Home Reference
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Classifications:

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


Aliases & Descriptions:

familial hyperaldosteronism 21
familial primary aldosteronism 21
hyperaldosteronism, familial 21
hereditary aldosteronism 21
fh 21


Related Diseases for Familial Hyperaldosteronism

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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 top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1hyperaldosteronism31.2REN, KCNJ5, AGTR1, POMC, CYP11B1, CYP11B2
2hypertension30.5AGTR1, POMC, CYP11B1, CYP11B2, REN
3glucocorticoid-remediable aldosteronism30.5POMC, CYP11B1, CYP11B2, REN
4breast cancer30.1PMS2, KCNJ5
5cushing's syndrome30.0REN, CYP11B2, CYP11B1, POMC
6adenoma29.9PMS2, KCNJ5, POMC, CYP11B1, CYP11B2, REN
7familial hypercholesterolemia10.6
8hereditary leiomyomatosis and renal cell cancer10.5
9fumarate hydratase deficiency10.5
10familial hyperaldosteronism type 210.4
11leiomyomatosis10.4
12renal cell carcinoma10.3
13leiomyoma10.3
14prostatitis10.3
15multiple cutaneous and uterine leiomyomas10.2
16cutaneous leiomyosarcoma10.2
17leiomyosarcoma10.2
18prostate cancer10.2
19uterine fibroid10.2
20cystadenoma10.2
21gastric leiomyoma10.2
22papillary renal cell carcinoma10.2
23cutaneous leishmaniasis10.2
24kidney cancer10.2
25floating-harbor syndrome10.2
26hyperlipidemia type 310.2
27familial renal cell carcinoma10.2
28cerebritis10.1
29paraganglioma10.1
30hemolytic anemia10.1
31hereditary renal cell carcinoma10.1
32pheochromocytoma10.1
33familial retinoblastoma10.0
34retinoblastoma10.0
35hyperaldosteronism, familial, type iii10.0
36myoma10.0
37narcolepsy10.0
38papillary carcinoma10.0
39mucinous ovarian cystadenoma10.0
40renal clear cell carcinoma10.0
41polyhydramnios10.0
42autoimmune hepatitis10.0
43tonsillitis10.0
44infertility10.0
45bladder carcinoma10.0
46brain cancer10.0
47cataract10.0
48cell type cancer10.0
49hepatitis10.0
50leishmaniasis10.0

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



Diseases related to familial hyperaldosteronism

Clinical Features for Familial Hyperaldosteronism

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Drugs & Therapeutics for Familial Hyperaldosteronism

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Familial Hyperaldosteronism

Drug clinical trials:

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Genetic Tests for Familial Hyperaldosteronism

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Anatomical Context for Familial Hyperaldosteronism

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32MalaCards
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MalaCards organs/tissues related to Familial Hyperaldosteronism:

32
Heart, Kidney, Adrenal gland

Animal Models for Familial Hyperaldosteronism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Hyperaldosteronism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3AGTR1, POMC, CYP11B1, CYP11B2, REN
2MP:00053877.9REN, CYP11B1, POMC, AGTR1, GNA12, PMS2
3MP:00053857.6REN, CYP11B2, CYP11B1, POMC, AGTR1, GNA12
4MP:00053767.2PMS2, GNA12, AGTR1, POMC, CYP11B1, CYP11B2

Publications for Familial Hyperaldosteronism

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Genetic Variations for Familial Hyperaldosteronism

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Expression for genes affiliated with Familial Hyperaldosteronism

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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

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53Reactome, 37NCBI BioSystems Database, 49PharmGKB, 51QIAGEN
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Compounds for genes affiliated with Familial Hyperaldosteronism

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 2BitterDB
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Compounds related to Familial Hyperaldosteronism according to GeneCards/GeneDecks:

(show top 50)    (show all 93)
idCompoundScoreTop Affiliating Genes
118-hydroxydeoxycorticosterone4410.2CYP11B1, CYP11B2
218-oxocortisol4410.1CYP11B1, CYP11B2
318-hydroxycortisol4410.1CYP11B1, CYP11B2
4mitotane44 1110.9POMC, CYP11B1
5tetrahydroaldosterone449.9CYP11B2, REN
6deoxycorticosterone28 2410.9CYP11B2, CYP11B1
7pcb 126449.8CYP11B1, CYP11B2
8aldosterone28 11 2411.8CYP11B2, CYP11B1, AGTR1
921-deoxycortisol44 2410.8CYP11B2, CYP11B1, POMC
10etomidate44 1110.8CYP11B2, CYP11B1, POMC
11cortisol28 2410.8POMC, CYP11B1, CYP11B2
12aliskiren44 1110.8AGTR1, REN
13metyrapone59 44 1111.7POMC, CYP11B1, CYP11B2
14lacidipine449.7REN, AGTR1
15metoclopramide44 1110.7REN, CYP11B2, CYP11B1
163beta-hydroxysteroid449.6CYP11B2, CYP11B1, POMC
17eplerenone44 59 28 1112.6REN, CYP11B2, AGTR1
18atenolol44 28 49 11 2413.6AGTR1, CYP11B2, REN
19hydralazine44 49 1111.6REN, CYP11B2, AGTR1
20irbesartan44 28 49 1112.6REN, CYP11B2, AGTR1
21fludrocortisone44 28 1111.6POMC, CYP11B2, REN
22nitroglycerin44 1110.6KCNJ5, AGTR1, REN
23hydrochlorothiazide44 49 28 11 2413.6AGTR1, CYP11B2, REN
24eprosartan44 28 1111.5REN, AGTR1
25methacholine44 1110.5KCNJ5, AGTR1, REN
26ang ii449.5REN, CYP11B2, AGTR1
27saralasin449.4AGTR1, REN
28furosemide44 49 59 28 11 2414.4REN, POMC, AGTR1
29cortisone44 2410.4AGTR1, POMC, CYP11B1, CYP11B2
30clonidine44 28 1111.3REN, POMC, AGTR1
31losartan44 49 28 1112.3AGTR1, CYP11B2, REN
3218-hydroxycorticosterone44 2410.3REN, CYP11B2, CYP11B1, POMC
33doca449.3POMC, CYP11B1, CYP11B2, REN
3411 deoxycortisol449.3POMC, CYP11B1, CYP11B2, REN
3517-hydroxyprogesterone44 2410.3POMC, CYP11B1, CYP11B2, REN
36nifedipine44 49 28 1112.3REN, CYP11B2, AGTR1, KCNJ5
37androstenedione44 2410.2POMC, CYP11B1, CYP11B2, REN
38benazepril44 1110.2REN, AGTR1
39corticosterone44 59 2411.2POMC, CYP11B1, CYP11B2, REN
40hydrocortisone44 2 59 1112.2POMC, CYP11B1, CYP11B2, REN
41potassium44 11 2411.0KCNJ5, AGTR1, CYP11B1, CYP11B2, REN
42sodium44 249.9REN, CYP11B2, CYP11B1, AGTR1, KCNJ5
43haloperidol44 28 2 49 1112.9KCNJ5, AGTR1, POMC, CYP11B2, REN
44spironolactone49 44 59 28 1112.9AGTR1, POMC, CYP11B1, CYP11B2, REN
4511beta-hydroxysteroid448.9AGTR1, POMC, CYP11B1, CYP11B2, REN
46acth448.9AGTR1, POMC, CYP11B1, CYP11B2, REN
47norepinephrine44 11 2410.8KCNJ5, AGTR1, POMC, CYP11B2, REN
48forskolin44 49 1110.8AGTR1, POMC, CYP11B1, CYP11B2, REN
49dexamethasone44 49 28 1111.6AGTR1, POMC, CYP11B1, CYP11B2, REN
50arginine448.6AGTR1, POMC, CYP11B1, CYP11B2, REN

GO Terms for genes affiliated with Familial Hyperaldosteronism

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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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  • 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet