MCID: FML156
MIFTS: 47

Familial Hyperaldosteronism malady

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

Summaries for Familial Hyperaldosteronism

About this section


Genetics Home Reference:23 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 and aldosteronism, glucocorticoid-remediable. 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

About this section

Familial Hyperaldosteronism, Aliases & Descriptions:

Name: Familial Hyperaldosteronism 23 62
Familial Primary Aldosteronism 23
Hyperaldosteronism, Familial 23
 
Hereditary Aldosteronism 23
Fh 23


Classifications:

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


Related Diseases for Familial Hyperaldosteronism

About this section

Diseases in the Hyperaldosteronism family:

Hyperaldosteronism, Familial, Type Ii 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 70)
idRelated DiseaseScoreTop Affiliating Genes
1hyperaldosteronism31.2AGTR1, REN, POMC, KCNJ5, CYP11B1, CYP11B2
2aldosteronism, glucocorticoid-remediable30.7REN, POMC, CYP11B1, CYP11B2
3adenoma30.0CYP11B2, CYP11B1, KCNJ5, PMS2, POMC, REN
4leiomyomatosis and renal cell cancer10.7
5fumarase deficiency10.7
6hypercholesterolemia, familial10.7
7fumarate hydratase deficiency10.6
8leiomyomatosis10.5
9hyperaldosteronism, familial, type ii10.4
10hyperaldosteronism, familial, type iii10.4
11renal cell carcinoma10.4
12leiomyoma10.4
13leiomyosarcoma10.3
14uterine fibroid10.3
15floating-harbor syndrome10.3
16hyperlipidemia type 310.3
17homozygous familial hypercholesterolemia10.3
18prostate cancer10.1
19myoma10.1
20cystadenoma10.1
21polyhydramnios10.1
22cutaneous leiomyosarcoma10.1
23gastric leiomyoma10.1
24renal clear cell carcinoma10.1
25kidney cancer10.1
26prostatitis10.1
27familial renal cell carcinoma10.1
28cerebral atrophy10.1
29retinoblastoma10.1
30endotheliitis10.1
31myocardial stunning10.0KCNJ5
32acute adrenal insufficiency10.0POMC
33fibromuscular dysplasia10.0REN
34portal hypertension10.0REN
35liddle syndrome10.0CYP11B2, REN
36precocious puberty10.0POMC, CYP11B1
37adrenocortical carcinoma10.0CYP11B2, CYP11B1, POMC
38hypoaldosteronism10.0REN, POMC, CYP11B2
39hypokalemia10.0REN, POMC, CYP11B2
40addison's disease10.0REN, POMC, CYP11B2
41renal tubular dysgenesis10.0REN, AGTR1
42renovascular hypertension10.0AGTR1, REN
43adrenal adenoma10.0CYP11B2, CYP11B1, POMC, REN
44congenital adrenal hyperplasia10.0REN, POMC, CYP11B1, CYP11B2
45cushing's syndrome10.0CYP11B2, CYP11B1, POMC, REN
46atrial fibrillation10.0AGTR1, CYP11B2
47renal fibrosis10.0REN, AGTR1
48glomerulosclerosis10.0AGTR1, REN
49congestive heart failure10.0CYP11B2, REN, AGTR1
50proteinuria10.0AGTR1, REN, CYP11B2

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



Diseases related to familial hyperaldosteronism

Symptoms for Familial Hyperaldosteronism

About this section

Drugs & Therapeutics for Familial Hyperaldosteronism

About this section

Drug clinical trials:

Search ClinicalTrials for Familial Hyperaldosteronism

Search NIH Clinical Center for Familial Hyperaldosteronism

Genetic Tests for Familial Hyperaldosteronism

About this section

Anatomical Context for Familial Hyperaldosteronism

About this section

MalaCards organs/tissues related to Familial Hyperaldosteronism:

33
Heart, Kidney, Adrenal gland, Testes, Endothelial

Animal Models for Familial Hyperaldosteronism or affiliated genes

About this section

MGI Mouse Phenotypes related to Familial Hyperaldosteronism:

37
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

About this section

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

About this section

Expression for genes affiliated with Familial Hyperaldosteronism

About this section

Search GEO for disease gene expression data for Familial Hyperaldosteronism.

Pathways for genes affiliated with Familial Hyperaldosteronism

About this section

Pathways related to Familial Hyperaldosteronism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism38
9.8CYP11B1, CYP11B2
2
Show member pathways
estradiol biosynthesis II38
androgen biosynthesis38
estradiol biosynthesis I38
progesterone biosynthesis38
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

About this section

Compounds related to Familial Hyperaldosteronism according to GeneCards/GeneDecks:

(show top 50)    (show all 111)
idCompoundScoreTop Affiliating Genes
119-Oxo-deoxycorticosterone2610.1CYP11B1, CYP11B2
219-oic-deoxycorticosterone2610.1CYP11B2, CYP11B1
318-oxocortisol4510.1CYP11B2, CYP11B1
419-Hydroxydeoxycorticosterone2610.1CYP11B2, CYP11B1
518-hydroxydeoxycorticosterone4510.1CYP11B2, CYP11B1
618-hydroxycortisol4510.1CYP11B1, CYP11B2
711beta-Hydroxyprogesterone269.9CYP11B2, CYP11B1
8tetrahydroaldosterone459.9REN, CYP11B2
921-deoxycortisol45 2610.8CYP11B1, POMC, CYP11B2
10etomidate45 1310.8CYP11B1, POMC, CYP11B2
11cortisol30 2610.8POMC, CYP11B2, CYP11B1
1211b-Hydroxyprogesterone269.8CYP11B2, CYP11B1
13metyrapone45 61 1311.8POMC, CYP11B1, CYP11B2
1411b-Hydroxyandrost-4-ene-3,17-dione269.7CYP11B2, CYP11B1
15metoclopramide45 51 1311.7REN, CYP11B2, CYP11B1
16fludrocortisone45 30 1311.7POMC, CYP11B2, REN
17aldosterone30 26 1311.7AGTR1, CYP11B1, CYP11B2
183beta-hydroxysteroid459.6CYP11B1, CYP11B2, POMC
19eplerenone45 61 30 1312.6REN, CYP11B2, AGTR1
20benazepril45 51 1311.6REN, AGTR1, CYP11B2
21hydralazine45 51 1311.5CYP11B2, AGTR1, REN
22atenolol45 51 30 26 1313.5AGTR1, REN, CYP11B2
23irbesartan45 30 51 1312.5CYP11B2, AGTR1, REN
2411b,17a,21-Trihydroxypreg-nenolone269.5CYP11B2, CYP11B1
25candesartan45 51 30 1312.5AGTR1, CYP11B2, REN
26hydrochlorothiazide45 30 51 26 1313.5REN, AGTR1, CYP11B2
27nitroglycerin45 1310.5REN, KCNJ5, AGTR1
2818-hydroxycorticosterone45 2610.4REN, CYP11B2, CYP11B1, POMC
29ang ii459.4AGTR1, REN, CYP11B2
30doca459.4CYP11B2, REN, POMC, CYP11B1
3111 deoxycortisol459.4POMC, CYP11B1, CYP11B2, REN
3217-hydroxyprogesterone45 2610.4POMC, REN, CYP11B1, CYP11B2
33methacholine45 51 1311.4KCNJ5, AGTR1, REN
34androstenedione45 2610.4POMC, REN, CYP11B1, CYP11B2
35corticosterone45 61 2611.3POMC, CYP11B1, CYP11B2, REN
36furosemide45 61 30 51 26 1314.3AGTR1, POMC, REN
37hydrocortisone45 3 61 1312.3REN, CYP11B2, CYP11B1, POMC
38cortisone45 2610.3CYP11B1, AGTR1, POMC, CYP11B2
39nifedipine45 30 51 1312.2AGTR1, CYP11B2, KCNJ5, REN
40clonidine45 51 30 1312.2POMC, REN, AGTR1
41potassium45 26 1310.9AGTR1, REN, KCNJ5, CYP11B2, CYP11B1
42haloperidol45 51 30 3 1312.9CYP11B2, KCNJ5, POMC, AGTR1, REN
43sodium45 269.9REN, CYP11B2, AGTR1, KCNJ5, CYP11B1
44spironolactone45 61 30 51 1312.9POMC, CYP11B2, CYP11B1, AGTR1, REN
4511beta-hydroxysteroid458.9CYP11B1, CYP11B2, POMC, AGTR1, REN
46acth458.9REN, AGTR1, POMC, CYP11B1, CYP11B2
47norepinephrine45 26 1310.8REN, AGTR1, POMC, KCNJ5, CYP11B2
48forskolin45 51 1310.8POMC, AGTR1, CYP11B1, REN, CYP11B2
49dexamethasone45 51 30 1311.6AGTR1, CYP11B2, CYP11B1, POMC, REN
50arginine458.4REN, AGTR1, POMC, CYP11B1, CYP11B2

GO Terms for genes affiliated with Familial Hyperaldosteronism

About this section

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1aldosterone biosynthetic processGO:003234210.0CYP11B1, CYP11B2
2cortisol biosynthetic processGO:003465110.0CYP11B1, CYP11B2
3mineralocorticoid biosynthetic processGO:000670510.0CYP11B1, CYP11B2
4cellular response to potassium ionGO:00358659.9CYP11B2, CYP11B1
5C21-steroid hormone biosynthetic processGO:00067009.9CYP11B1, CYP11B2
6sterol metabolic processGO:00161259.8CYP11B1, CYP11B2
7steroid metabolic processGO:00082029.8CYP11B1, CYP11B2
8cellular response to hormone stimulusGO:00328709.7CYP11B2, CYP11B1
9renin-angiotensin regulation of aldosterone productionGO:00020189.7AGTR1, REN
10regulation of blood pressureGO:00082179.5CYP11B1, POMC, REN
11Rho protein signal transductionGO:00072668.8AGTR1, GNA12

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

idNameGO IDScoreTop Affiliating Genes
1steroid 11-beta-monooxygenase activityGO:00045079.8CYP11B1, CYP11B2

Products for genes affiliated with Familial Hyperaldosteronism

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Familial Hyperaldosteronism

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet