FH
MCID: FML156
MIFTS: 37

Familial Hyperaldosteronism (FH) malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Familial Hyperaldosteronism

Aliases & Descriptions for Familial Hyperaldosteronism:

Name: Familial Hyperaldosteronism 25 69
Hyperaldosteronism, Familial 25 29
Familial Primary Aldosteronism 25
Hereditary Aldosteronism 25
Fh 25

Classifications:



Summaries for Familial Hyperaldosteronism

Genetics Home Reference : 25 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 hyperaldosteronism, familial, is related to aldosteronism, glucocorticoid-remediable and leiomyomatosis and renal cell cancer. An important gene associated with Familial Hyperaldosteronism is CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1), and among its related pathways/superpathways are Insulin secretion and superpathway of steroid hormone biosynthesis. The drugs Dopamine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include heart, adrenal gland and kidney, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and cardiovascular system

Wikipedia : 71 Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are... more...

Related Diseases for Familial Hyperaldosteronism

Diseases in the Hyperaldosteronism family:

Hyperaldosteronism, Familial, Type Ii Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Familial, Type Iv Familial Hyperaldosteronism

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

(show all 30)
id Related Disease Score Top Affiliating Genes
1 aldosteronism, glucocorticoid-remediable 11.8
2 leiomyomatosis and renal cell cancer 11.8
3 fumarase deficiency 11.8
4 hyperaldosteronism, familial, type iii 11.3
5 hyperaldosteronism, familial, type ii 11.2
6 hyperaldosteronism, familial, type iv 10.8
7 hyperaldosteronism 10.5
8 spastic ataxia 3 10.2 CYP11B1 CYP11B2
9 cardiomyopathy, dilated, 1v 10.2 CYP11B1 CYP11B2
10 hypoaldosteronism, congenital, due to cmo i deficiency 10.2 CYP11B1 CYP11B2
11 jackson-weiss syndrome 10.1 CYP11B1 CYP11B2
12 merkel cell carcinoma 10.1 CYP11B1 CYP11B2 KCNJ5
13 esophagus squamous cell papilloma 10.1 CYP11B1 CYP11B2 KCNJ5
14 benign peritoneal mesothelioma 10.1 CYP11B1 CYP11B2
15 aplasia cutis congenita recessive 10.1 AGTR1 CYP11B2
16 childhood optic tract astrocytoma 10.0 CYP11B1 CYP11B2 MEN1
17 myositis fibrosa 10.0 AGTR1 KCNJ5
18 vestibular gland benign neoplasm 10.0 CYP11B2 KCNJ5 MEN1
19 bladder colonic type adenocarcinoma 10.0 CYP11B1 CYP11B2 MEN1
20 immune system organ benign neoplasm 9.9 CYP11B1 CYP11B2 KCNJ5 MEN1
21 endocrine organ benign neoplasm 9.9 CYP11B1 CYP11B2 KCNJ5 MEN1
22 panuveitis 9.9 AGTR1 CYP11B1 CYP11B2 KCNJ5
23 hypertension, essential 9.9 AGTR1 CYP11B1 CYP11B2
24 laryngostenosis 9.9 AGTR1 CYP11B2
25 clear cell adenocarcinoma 9.7 AGTR1 CYP11B1 CYP11B2 KCNJ5 MEN1
26 endotheliitis 9.6
27 retinoblastoma 9.6
28 cushing's syndrome 9.6
29 adenoma 9.6
30 intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 8.4 AGTR1 CACNA1H CYP11B1 CYP11B2 FHII GNA12

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



Diseases related to Familial Hyperaldosteronism

Symptoms & Phenotypes for Familial Hyperaldosteronism

GenomeRNAi Phenotypes related to Familial Hyperaldosteronism according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.58 PMS2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.58 MEN1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.58 CYP11B2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.58 CYP11B2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.58 PMS2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.58 PMS2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.58 MEN1 PMS2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.58 CYP11B2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.58 CYP11B2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.58 PMS2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.58 MEN1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.58 PMS2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.58 CYP11B2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.58 CYP11B2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.58 MEN1 PMS2 CYP11B2

MGI Mouse Phenotypes related to Familial Hyperaldosteronism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.17 MEN1 AGTR1 CACNA1H CYP11B1 CYP11B2 GNA12

Drugs & Therapeutics for Familial Hyperaldosteronism

Drugs for Familial Hyperaldosteronism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3
Captopril Approved 62571-86-2 44093
4 Neurotransmitter Agents
5 Peripheral Nervous System Agents
6 Dopamine Agents
7 Epinephryl borate
8 Protective Agents
9 Racepinephrine
10 Autonomic Agents
11 Hormone Antagonists
12 Hormones
13 Hormones, Hormone Substitutes, and Hormone Antagonists
14 Mineralocorticoids
15 calcitonin
16 Immunoglobulins
17 Antibodies
18 Antihypertensive Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 D2 Dopamine Receptor on Human Aldosterone-Producing Adenoma and Its Role in Aldosterone Secretion and Cell Proliferation Unknown status NCT00173446
2 Cardiovascular Evaluation of Adult PHA 1 Patients Completed NCT00646828
3 Primary Aldosteronism In Hypertensive Patients in China Recruiting NCT03155139
4 Genetic and Morphological Analysis of Thyrotoxic Periodic Paralysis Active, not recruiting NCT02287363
5 Radiofrequency Ablation for Aldosterone-producting Adenoma in Patients With Primary Aldosteronism Not yet recruiting NCT02756754
6 Evaluation of Safety Mechanisms of Renal Radioablation(RSRA)for Uncontrolled Hypertension Terminated NCT01966952
7 Body Volume Regulation in Pulmonary Arterial Hypertension With Right Ventricular Failure Withdrawn NCT00811486

Search NIH Clinical Center for Familial Hyperaldosteronism

Genetic Tests for Familial Hyperaldosteronism

Genetic tests related to Familial Hyperaldosteronism:

id Genetic test Affiliating Genes
1 Familial Hyperaldosteronism 29

Anatomical Context for Familial Hyperaldosteronism

MalaCards organs/tissues related to Familial Hyperaldosteronism:

39
Heart, Adrenal Gland, Kidney, Testes, Endothelial

Publications for Familial Hyperaldosteronism

Articles related to Familial Hyperaldosteronism:

(show all 47)
id Title Authors Year
1
Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3. ( 27793677 )
2017
2
Evaluation of a Recently Established Test for Familial Hyperaldosteronism Type 1. ( 27923252 )
2016
3
A novel phenotype of familial hyperaldosteronism type III: Concurrence of aldosteronism and Cushing's syndrome. ( 27403928 )
2016
4
An Update on Familial Hyperaldosteronism. ( 26445452 )
2015
5
Pregnancy normalized familial hyperaldosteronism type I: a novel role for progesterone? ( 24943290 )
2014
6
Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature. ( 24819081 )
2014
7
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III. ( 24037882 )
2013
8
The prevalence of familial hyperaldosteronism in apparently sporadic primary aldosteronism in Germany: a single center experience. ( 22274719 )
2012
9
KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. ( 22203740 )
2012
10
Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism. ( 22447138 )
2012
11
Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms). ( 21876069 )
2011
12
A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I. ( 20634641 )
2011
13
Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation. ( 21502562 )
2011
14
Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II. ( 20927129 )
2011
15
Is familial hyperaldosteronism underdiagnosed in hypertensive children? ( 21502569 )
2011
16
Familial hyperaldosteronism I-III. ( 20131203 )
2010
17
A mother/daughter case of familial hyperaldosteronism. ( 20865750 )
2010
18
Familial hyperaldosteronism type 1 in pregnancy. ( 19356193 )
2009
19
Elevated serum interleukin 6 levels in normotensive individuals with familial hyperaldosteronism type 1. ( 19221206 )
2009
20
A new form of hereditary primary aldosteronism: familial hyperaldosteronism type III. ( 18685118 )
2008
21
[Subclinical endothelial inflammation markers in a family with type I familial hyperaldosteronism caused by a de novo mutation]. ( 19030657 )
2008
22
Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. ( 18307725 )
2008
23
Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families. ( 18622235 )
2008
24
No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II. ( 17121540 )
2006
25
Evidence for abnormal left ventricular structure and function in normotensive individuals with familial hyperaldosteronism type I. ( 15941863 )
2005
26
Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity. ( 16003173 )
2005
27
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
28
Retention of heterozygosity at chromosome 7p22 and 11q13 in aldosterone-producing tumours of patients with familial hyperaldosteronism not remediable by glucocorticoids. ( 15175634 )
2004
29
[Familial hyperaldosteronism]. ( 15351948 )
2004
30
New genetic insights in familial hyperaldosteronism. ( 12381543 )
2002
31
Familial hyperaldosteronism. ( 11595502 )
2001
32
A chimeric CYP11B1/CYP11B2 gene in glucocorticoid-insuppressible familial hyperaldosteronism. ( 11453962 )
2001
33
Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. ( 10999827 )
2000
34
Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance. ( 10852446 )
2000
35
Familial hyperaldosteronism. ( 11004715 )
2000
36
A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). ( 11073536 )
2000
37
Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I. ( 10566645 )
1999
38
Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. ( 9745430 )
1998
39
Linkage analysis of familial hyperaldosteronism type II--absence of linkage to the gene encoding the angiotensin II receptor type 1. ( 9506777 )
1998
40
A PCR-based method of screening individuals of all ages, from neonates to the elderly, for familial hyperaldosteronism type I. ( 9483237 )
1997
41
Evidence for persistent dysfunction of wild-type aldosterone synthase gene in glucocorticoid-treated familial hyperaldosteronism type I. ( 9488230 )
1997
42
In familial hyperaldosteronism type I, hybrid gene-induced aldosterone production dominates that induced by wild-type genes. ( 9360524 )
1997
43
Hybrid gene or hybrid steroids in the detection and screening for familial hyperaldosteronism type I. ( 8582097 )
1995
44
Clinical, biochemical and genetic approaches to the detection of familial hyperaldosteronism type I. ( 8903619 )
1995
45
A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. ( 7864844 )
1995
46
Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism. ( 1521363 )
1992
47
Familial hyperaldosteronism, not suppressed by dexamethasone. ( 7119083 )
1982

Variations for Familial Hyperaldosteronism

Expression for Familial Hyperaldosteronism

Search GEO for disease gene expression data for Familial Hyperaldosteronism.

Pathways for Familial Hyperaldosteronism

Pathways related to Familial Hyperaldosteronism according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 AGTR1 CACNA1H CYP11B2
2
Show member pathways
9.95 CYP11B1 CYP11B2

GO Terms for Familial Hyperaldosteronism

Biological processes related to Familial Hyperaldosteronism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular response to hormone stimulus GO:0032870 9.43 CACNA1H CYP11B1 CYP11B2
2 Rho protein signal transduction GO:0007266 9.4 AGTR1 GNA12
3 sterol metabolic process GO:0016125 9.37 CYP11B1 CYP11B2
4 cellular response to potassium ion GO:0035865 9.33 CACNA1H CYP11B1 CYP11B2
5 C21-steroid hormone biosynthetic process GO:0006700 9.32 CYP11B1 CYP11B2
6 aldosterone biosynthetic process GO:0032342 9.13 CACNA1H CYP11B1 CYP11B2
7 cortisol biosynthetic process GO:0034651 8.8 CACNA1H CYP11B1 CYP11B2

Molecular functions related to Familial Hyperaldosteronism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 corticosterone 18-monooxygenase activity GO:0047783 8.96 CYP11B1 CYP11B2
2 steroid 11-beta-monooxygenase activity GO:0004507 8.62 CYP11B1 CYP11B2

Sources for Familial Hyperaldosteronism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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