FH1
MCID: GLC002
MIFTS: 58

Glucocorticoid-Remediable Aldosteronism (FH1) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases categories
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Summaries for Glucocorticoid-Remediable Aldosteronism

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Glucocorticoid remediable aldosteronism (GRA), also describable as aldosterone synthase hyperactivity,... more...

MalaCards: Glucocorticoid-Remediable Aldosteronism, also known as aldosteronism, glucocorticoid-remediable, is related to hypertension and hyperaldosteronism. An important gene associated with Glucocorticoid-Remediable Aldosteronism is CYP11B1 (cytochrome P450, family 11, subfamily B, polypeptide 1), and among its related pathways are superpathway of steroid hormone biosynthesis and Steroid hormone biosynthesis. The compounds 18-hydroxycortisol and 18-hydroxydeoxycorticosterone have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotypes are adipose tissue and muscle.

Description from OMIM:47 103900

Aliases & Classifications for Glucocorticoid-Remediable Aldosteronism

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 27ICD9CM, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
glucocorticoid-remediable aldosteronism:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

glucocorticoid-remediable aldosteronism 8 43 45 49 62
aldosteronism, glucocorticoid-remediable 9 20 22 47
glucocorticoid sensitive hypertension 43 49
dexamethasone sensitive hypertension 43 49
hyperaldosteronism, familial type 1 43
familial hyperaldosteronism type 1 43
familial hyperaldosteronism type i 49
fh-i 49
fh1 49
gra 49


External Ids:

Disease Ontology8 DOID:14080
OMIM47 103900
ICD9CM27 255.11
ICD10 via Orphanet26 E26.0

Related Diseases for Glucocorticoid-Remediable Aldosteronism

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17GeneCards, 18GeneDecks
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Diseases related to Glucocorticoid-Remediable Aldosteronism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension30.9CYP11B2, CYP11B1, POMC, REN, NR3C2, NR3C1
2hyperaldosteronism30.5NR3C2, REN, POMC, CYP11B1, CYP11B2
3low renin hypertension30.5CYP11B2, REN
4adenoma30.3CYP11B2, CYP11B1, POMC, REN, NR3C2
5familial hyperaldosteronism10.5
6intracranial aneurysm10.3
7hyperaldosteronism, familial, type iii10.3
8aneurysm10.3
9acute adrenal insufficiency10.1POMC
10elephantiasis10.0
11nonalcoholic steatohepatitis10.0
12pseudohypoaldosteronism type ii10.0NR3C2, REN
13pseudohypoaldosteronism10.0REN, NR3C2
14renal fibrosis10.0NR3C2, REN
15precocious puberty10.0CYP11B1, POMC
16metabolic acidosis10.0NR3C2, REN
17polycystic ovary syndrome10.0NR3C2, POMC
18congestive heart failure10.0NR3C2, REN, CYP11B2
19acth-secreting pituitary adenoma10.0NR3C1, POMC
20adrenocortical carcinoma10.0POMC, CYP11B1, CYP11B2
21nelson syndrome10.0NR3C1, POMC
22chronic kidney failure10.0CYP11B2, REN, NR3C2
23chronic fatigue syndrome10.0POMC, NR3C1
24hypoaldosteronism10.0CYP11B2, POMC, REN
25congenital heart disease10.0POMC, NR3C2
26addison's disease10.0REN, POMC, CYP11B2
27myocardial infarction10.0NR3C2, REN, CYP11B2
28hypertrophy of breast10.0CYP11B2, REN, NR3C2
29cerebrovascular disease10.0CYP11B1, REN, NR3C2
30adrenal adenoma10.0REN, POMC, CYP11B1
31primary hyperoxaluria10.0CYP11B2, REN, NR3C2
32hyperandrogenism10.0NR3C1, POMC
33diabetic nephropathy10.0NR3C2, REN
34breast cancer10.0NR3C1, NR3C2
35nephrotic syndrome10.0NR3C1, POMC
36cushing's syndrome9.9POMC, NR3C2, NR3C1
37pituitary adenoma9.9NR3C1, POMC
38adrenal gland hyperfunction9.9NR3C1, NR3C2, POMC
39mood disorder9.9POMC, NR3C2, NR3C1
40lung small cell carcinoma9.9NR3C1, NR3C2, POMC
41obesity9.9NR3C1, NR3C2, POMC
42proteinuria9.9NR3C1, NR3C2, REN, CYP11B2
43pre-eclampsia9.9CYP11B2, REN, NR3C2, NR3C1
44conn's syndrome9.9NR3C2, REN, POMC, CYP11B1, CYP11B2
45diabetes mellitus9.9NR3C1, NR3C2, REN, POMC
46essential hypertension9.9CYP11B2, CYP11B1, REN, NR3C2, NR3C1
47congenital adrenal hyperplasia9.9CYP11B2, CYP11B1, POMC, REN, NR3C1
48hypokalemia9.9CYP11B2, POMC, REN, NR3C2, NR3C1

Graphical network of the top 20 diseases related to Glucocorticoid-Remediable Aldosteronism:



Diseases related to glucocorticoid-remediable aldosteronism

Symptoms for Glucocorticoid-Remediable Aldosteronism

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47OMIM
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Symptoms by clinical synopsis from OMIM:

103900

Clinical features from OMIM:

103900

Drugs & Therapeutics for Glucocorticoid-Remediable Aldosteronism

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Glucocorticoid-Remediable Aldosteronism

Search NIH Clinical Center for Glucocorticoid-Remediable Aldosteronism

Genetic Tests for Glucocorticoid-Remediable Aldosteronism

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20GeneTests, 22GTR
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Genetic tests related to Glucocorticoid-Remediable Aldosteronism:

id Genetic test Affiliating Genes
1 Glucocorticoid-Remediable Aldosteronism20 22 CYP11B2

Anatomical Context for Glucocorticoid-Remediable Aldosteronism

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33MalaCards
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MalaCards organs/tissues related to Glucocorticoid-Remediable Aldosteronism:

33
Testes

Animal Models for Glucocorticoid-Remediable Aldosteronism or affiliated genes

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37MGI
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Publications for Glucocorticoid-Remediable Aldosteronism

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52PubMed
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Articles related to Glucocorticoid-Remediable Aldosteronism:

(show all 41)
idTitleAuthorsYear
1
Glucocorticoid-remediable aldosteronism. (21565670)
2011
2
Diagnosis of glucocorticoid-remediable aldosteronism in hypertensive children. (21625068)
2011
3
Genetic analyses of the chimeric CYP11B1/CYP11B2 gene in a Korean family with glucocorticoid-remediable aldosteronism. (20808686)
2010
4
A German family with glucocorticoid-remediable aldosteronism. (17277347)
2007
5
Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinical centres in Poland. (16110193)
2005
6
Glucocorticoid remediable aldosteronism (GRA) screening in hypertensive patients from a primary care setting. (15660117)
2005
7
Glucocorticoid-remediable aldosteronism. (14667264)
2004
8
Coexistence of different phenotypes in a family with glucocorticoid-remediable aldosteronism. (14688810)
2004
9
Non-glucocorticoid-remediable aldosteronism in an infant with low-renin hypertension. (14648333)
2004
10
Glucocorticoid-remediable aldosteronism. (15761539)
2004
11
Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation italian pedigree. (12107222)
2002
12
Clinical and gene mutation studies on a Chinese pedigree with glucocorticoid-remediable aldosteronism. (12150724)
2002
13
Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. (11343049)
2001
14
Is random screening of value in detecting glucocorticoid-remediable aldosteronism within a hypertensive population? (11317201)
2001
15
Japanese family with glucocorticoid-remediable aldosteronism diagnosed by long-polymerase chain reaction. (11675955)
2001
16
Glucocorticoid-remediable aldosteronism and pregnancy. (10679515)
2000
17
Glucocorticoid-remediable aldosteronism. (10599685)
1999
18
Abolished nocturnal blood pressure fall in a boy with glucocorticoid-remediable aldosteronism. (10618671)
1999
19
Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. (9453343)
1998
20
Diagnosis of glucocorticoid-remediable aldosteronism in primary aldosteronism: aldosterone response to dexamethasone and long polymerase chain reaction for chimeric gene. (9661646)
1998
21
Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism. (9851772)
1998
22
Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. (9360508)
1997
23
Potassium and aldosterone secretion in glucocorticoid-remediable aldosteronism. (9398755)
1997
24
Impaired potassium-stimulated aldosterone production: a possible explanation for normokalemic glucocorticoid-remediable aldosteronism. (9141541)
1997
25
Glucocorticoid remediable aldosteronism: a case report. (9178594)
1997
26
Glucocorticoid-remediable aldosteronism. (8759241)
1996
27
Variation of phenotype in patients with glucocorticoid remediable aldosteronism. (8825044)
1996
28
Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications. (8954032)
1996
29
Glucocorticoid-remediable aldosteronism. (8565422)
1995
30
Glucocorticoid remediable aldosteronism: a rare hereditary form of adrenocorticotropic hormone regulated mineralocorticoid hypertension. (7609119)
1995
31
Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis. (7792815)
1995
32
Glucocorticoid-remediable aldosteronism. (9221269)
1995
33
Abnormality of aldosterone and cortisol late pathways in glucocorticoid-remediable aldosteronism. (8077359)
1994
34
Glucocorticoid-remediable aldosteronism. (8070423)
1994
35
The molecular basis of a hereditary form of hypertension, glucocorticoid-remediable aldosteronism. (18407135)
1993
36
The molecular basis of glucocorticoid-remediable aldosteronism, a Mendelian cause of human hypertension. (1309006)
1992
37
Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. (1567095)
1992
38
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. (1731223)
1992
39
Two uncommon causes of mineralocorticoid excess. Syndrome of apparent mineralocorticoid excess and glucocorticoid-remediable aldosteronism. (1879399)
1991
40
Defective fasciculata zone function as the mechanism of glucocorticoid-remediable aldosteronism. (2172271)
1990
41
Non-tumorous "primary" aldosteronism. I. Type relieved by glucocorticoid (glucocorticoid-remediable aldosteronism). (5793351)
1969

Variations for Glucocorticoid-Remediable Aldosteronism

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Glucocorticoid-Remediable Aldosteronism:

1
id Gene Name Type Significance SNP ID Assembly Location
1CYP11B1CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERAundetermined variantPathogenic/card/glucocorticoid_remediable_aldosteronism

Expression for genes affiliated with Glucocorticoid-Remediable Aldosteronism

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glucocorticoid-Remediable Aldosteronism

Search GEO for disease gene expression data for Glucocorticoid-Remediable Aldosteronism.

Pathways for genes affiliated with Glucocorticoid-Remediable Aldosteronism

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50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome, 51PharmGKB, 60Thomson Reuters
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Pathways related to Glucocorticoid-Remediable Aldosteronism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
estradiol biosynthesis II38
androgen biosynthesis38
estradiol biosynthesis I38
progesterone biosynthesis38
9.6CYP11B1, CYP11B2
2
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism38
9.6CYP11B1, CYP11B2
39.4POMC, CYP11B1
4
Show member pathways
9.3REN, POMC
5
Show member pathways
Nuclear Receptors38
9.1NR3C1, NR3C2
69.0POMC, NR3C1
7
Show member pathways
9.0CYP11B2, CYP11B1, POMC
8
Show member pathways
9.0POMC, CYP11B1, CYP11B2
9
Show member pathways
9.0CYP11B2, CYP11B1, POMC
10
Show member pathways
9.0NR3C2, REN, CYP11B2

Compounds for genes affiliated with Glucocorticoid-Remediable Aldosteronism

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45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience, 3BitterDB
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Compounds related to Glucocorticoid-Remediable Aldosteronism according to GeneCards/GeneDecks:

(show top 50)    (show all 111)
idCompoundScoreTop Affiliating Genes
118-hydroxycortisol459.8CYP11B2, CYP11B1
218-hydroxydeoxycorticosterone459.8CYP11B1, CYP11B2
319-Hydroxydeoxycorticosterone249.8CYP11B1, CYP11B2
419-oic-deoxycorticosterone249.8CYP11B1, CYP11B2
519-Oxo-deoxycorticosterone249.7CYP11B2, CYP11B1
618-oxocortisol459.6CYP11B2, CYP11B1
7metoclopramide45 51 1111.4REN, CYP11B1, CYP11B2
8tetrahydroaldosterone459.4NR3C2, REN, CYP11B2
921-deoxycortisol45 2410.4CYP11B1, POMC, CYP11B2
10etomidate45 1110.4CYP11B2, POMC, CYP11B1
11hydrochlorothiazide45 29 51 24 1113.3CYP11B2, NR3C2, REN
12ang ii459.2NR3C2, CYP11B2, REN
13potassium canrenoate459.2NR3C2, NR3C1
14glycyrrhetinic acid45 2410.0NR3C1, REN, NR3C2
15glycyrrhizin45 2910.0NR3C2, NR3C1, REN
16fluconazole45 119.9POMC, NR3C1, CYP11B1
17carbenoxolone45 29 1110.9NR3C1, NR3C2, REN
1818-hydroxycorticosterone45 249.9CYP11B2, POMC, CYP11B1, REN
1917-hydroxyprogesterone45 249.9POMC, REN, CYP11B2, CYP11B1
20aminoglutethimide45 119.9NR3C1, NR3C2, POMC
213beta-hydroxysteroid458.9NR3C2, POMC, CYP11B1, CYP11B2
22androstenedione45 249.8REN, CYP11B2, CYP11B1, POMC
23fluticasone propionate45 51 61 1111.8NR3C1, POMC, NR3C2
24ribonucleic acid458.7POMC, NR3C2, CYP11B1, CYP11B2
25haloperidol45 51 29 3 1112.7CYP11B2, NR3C2, POMC, REN
26deoxycorticosterone29 249.7NR3C1, NR3C2, CYP11B1, CYP11B2
27Cortexolone248.7CYP11B2, NR3C1, CYP11B1, NR3C2
28aldosterone29 24 1110.7CYP11B2, CYP11B1, NR3C2, NR3C1
29eplerenone45 61 29 1111.6REN, CYP11B2, NR3C1, NR3C2
30potassium45 24 1110.6CYP11B2, REN, NR3C2, CYP11B1
31ketoconazole45 29 24 1111.5CYP11B1, POMC, NR3C1
32dhea458.4NR3C1, CYP11B2, POMC, NR3C2
33arginine458.2CYP11B1, NR3C2, REN, CYP11B2, POMC
34cortisol29 249.1CYP11B2, CYP11B1, NR3C1, NR3C2, POMC
35cortisone45 249.1NR3C2, NR3C1, CYP11B2, CYP11B1, POMC
36metyrapone45 61 1110.1NR3C1, POMC, CYP11B1, CYP11B2, NR3C2
37norepinephrine45 24 1110.1CYP11B2, REN, NR3C2, POMC
38progesterone45 29 61 24 1112.0CYP11B2, CYP11B1, NR3C2, NR3C1, POMC
39fludrocortisone45 29 1110.0CYP11B2, NR3C2, NR3C1, POMC, REN
40testosterone45 61 24 1111.0POMC, CYP11B1, CYP11B2, NR3C2, NR3C1
41estradiol45 24 119.9NR3C1, NR3C2, REN, CYP11B1, POMC
4211beta-hydroxysteroid457.6CYP11B2, CYP11B1, POMC, REN, NR3C2, NR3C1
43doca457.6NR3C1, NR3C2, REN, POMC, CYP11B1, CYP11B2
4411 deoxycortisol457.6NR3C1, NR3C2, REN, POMC, CYP11B1, CYP11B2
45spironolactone45 61 29 51 1111.6CYP11B2, CYP11B1, POMC, REN, NR3C2, NR3C1
46corticosterone45 61 249.6CYP11B1, POMC, REN, NR3C2, NR3C1, CYP11B2
47hydrocortisone45 3 61 1110.6CYP11B1, REN, POMC, NR3C1, CYP11B2, NR3C2
48acth457.5CYP11B1, NR3C1, NR3C2, REN, POMC, CYP11B2
49steroid457.5NR3C1, NR3C2, REN, POMC, CYP11B1, CYP11B2
50dexamethasone45 51 29 1110.5NR3C1, NR3C2, REN, POMC, CYP11B2, CYP11B1

GO Terms for genes affiliated with Glucocorticoid-Remediable Aldosteronism

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16Gene Ontology
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Biological processes related to Glucocorticoid-Remediable Aldosteronism according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1aldosterone biosynthetic processGO:0323429.8CYP11B1, CYP11B2
2cortisol biosynthetic processGO:0346519.8CYP11B1, CYP11B2
3mineralocorticoid biosynthetic processGO:0067059.7CYP11B2, CYP11B1
4cellular response to potassium ionGO:0358659.7CYP11B1, CYP11B2
5C21-steroid hormone biosynthetic processGO:0067009.6CYP11B1, CYP11B2
6steroid metabolic processGO:0082029.6CYP11B2, CYP11B1
7sterol metabolic processGO:0161259.5CYP11B2, CYP11B1
8cellular response to hormone stimulusGO:0328709.3CYP11B1, CYP11B2
9regulation of blood pressureGO:0082179.1CYP11B1, POMC, REN

Molecular functions related to Glucocorticoid-Remediable Aldosteronism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:0200379.6CYP11B1, CYP11B2
2steroid 11-beta-monooxygenase activityGO:0045079.5CYP11B1, CYP11B2
3steroid bindingGO:0054968.8NR3C1, NR3C2

Products for genes affiliated with Glucocorticoid-Remediable Aldosteronism

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Sources for Glucocorticoid-Remediable Aldosteronism

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet