FH1
MCID: GLC002
MIFTS: 58

Glucocorticoid-Remediable Aldosteronism (FH1) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases categories

Summaries for Glucocorticoid-Remediable Aldosteronism

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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:48 103900

Aliases & Classifications for Glucocorticoid-Remediable Aldosteronism

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 28ICD9CM, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
glucocorticoid-remediable aldosteronism:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

glucocorticoid-remediable aldosteronism 9 44 46 50 63
aldosteronism, glucocorticoid-remediable 10 21 23 48
glucocorticoid sensitive hypertension 44 50
dexamethasone sensitive hypertension 44 50
hyperaldosteronism, familial type 1 44
familial hyperaldosteronism type 1 44
familial hyperaldosteronism type i 50
fh-i 50
fh1 50
gra 50


External Ids:

Disease Ontology9 DOID:14080
OMIM48 103900
ICD9CM28 255.11
ICD10 via Orphanet27 E26.0

Related Diseases for Glucocorticoid-Remediable Aldosteronism

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Glucocorticoid-Remediable Aldosteronism

Drug clinical trials:

Search ClinicalTrials for Glucocorticoid-Remediable Aldosteronism

Search NIH Clinical Center for Glucocorticoid-Remediable Aldosteronism

Search CenterWatch for Glucocorticoid-Remediable Aldosteronism

Genetic Tests for Glucocorticoid-Remediable Aldosteronism

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21GeneTests, 23GTR
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Genetic tests related to Glucocorticoid-Remediable Aldosteronism:

id Genetic test Affiliating Genes
1 Glucocorticoid-Remediable Aldosteronism21 23 CYP11B2

Anatomical Context for Glucocorticoid-Remediable Aldosteronism

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34MalaCards
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MalaCards organs/tissues related to Glucocorticoid-Remediable Aldosteronism:

34
Testes

Animal Models for Glucocorticoid-Remediable Aldosteronism or affiliated genes

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38MGI
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Publications for Glucocorticoid-Remediable Aldosteronism

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53PubMed
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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, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 52PharmGKB, 61Thomson 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 II39
androgen biosynthesis39
estradiol biosynthesis I39
progesterone biosynthesis39
9.6CYP11B1, CYP11B2
2
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism39
9.6CYP11B1, CYP11B2
39.4POMC, CYP11B1
4
Show member pathways
9.3REN, POMC
5
Show member pathways
Nuclear Receptors39
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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46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank, 30IUPHAR, 62Tocris 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-hydroxycortisol469.8CYP11B2, CYP11B1
218-hydroxydeoxycorticosterone469.8CYP11B1, CYP11B2
319-Hydroxydeoxycorticosterone259.8CYP11B1, CYP11B2
419-oic-deoxycorticosterone259.8CYP11B1, CYP11B2
519-Oxo-deoxycorticosterone259.7CYP11B2, CYP11B1
618-oxocortisol469.6CYP11B2, CYP11B1
7metoclopramide46 52 1211.4REN, CYP11B1, CYP11B2
8tetrahydroaldosterone469.4NR3C2, REN, CYP11B2
921-deoxycortisol46 2510.4CYP11B1, POMC, CYP11B2
10etomidate46 1210.4CYP11B2, POMC, CYP11B1
11hydrochlorothiazide46 30 52 25 1213.3CYP11B2, NR3C2, REN
12ang ii469.2NR3C2, CYP11B2, REN
13potassium canrenoate469.2NR3C2, NR3C1
14glycyrrhetinic acid46 2510.0NR3C1, REN, NR3C2
15glycyrrhizin46 3010.0NR3C2, NR3C1, REN
16fluconazole46 129.9POMC, NR3C1, CYP11B1
17carbenoxolone46 30 1210.9NR3C1, NR3C2, REN
1818-hydroxycorticosterone46 259.9CYP11B2, POMC, CYP11B1, REN
1917-hydroxyprogesterone46 259.9POMC, REN, CYP11B2, CYP11B1
20aminoglutethimide46 129.9NR3C1, NR3C2, POMC
213beta-hydroxysteroid468.9NR3C2, POMC, CYP11B1, CYP11B2
22androstenedione46 259.8REN, CYP11B2, CYP11B1, POMC
23fluticasone propionate46 52 62 1211.8NR3C1, POMC, NR3C2
24ribonucleic acid468.7POMC, NR3C2, CYP11B1, CYP11B2
25haloperidol46 52 30 3 1212.7CYP11B2, NR3C2, POMC, REN
26deoxycorticosterone30 259.7NR3C1, NR3C2, CYP11B1, CYP11B2
27Cortexolone258.7CYP11B2, NR3C1, CYP11B1, NR3C2
28aldosterone30 25 1210.7CYP11B2, CYP11B1, NR3C2, NR3C1
29eplerenone46 62 30 1211.6REN, CYP11B2, NR3C1, NR3C2
30potassium46 25 1210.6CYP11B2, REN, NR3C2, CYP11B1
31ketoconazole46 30 25 1211.5CYP11B1, POMC, NR3C1
32dhea468.4NR3C1, CYP11B2, POMC, NR3C2
33arginine468.2CYP11B1, NR3C2, REN, CYP11B2, POMC
34cortisol30 259.1CYP11B2, CYP11B1, NR3C1, NR3C2, POMC
35cortisone46 259.1NR3C2, NR3C1, CYP11B2, CYP11B1, POMC
36metyrapone46 62 1210.1NR3C1, POMC, CYP11B1, CYP11B2, NR3C2
37norepinephrine46 25 1210.1CYP11B2, REN, NR3C2, POMC
38progesterone46 30 62 25 1212.0CYP11B2, CYP11B1, NR3C2, NR3C1, POMC
39fludrocortisone46 30 1210.0CYP11B2, NR3C2, NR3C1, POMC, REN
40testosterone46 62 25 1211.0POMC, CYP11B1, CYP11B2, NR3C2, NR3C1
41estradiol46 25 129.9NR3C1, NR3C2, REN, CYP11B1, POMC
4211beta-hydroxysteroid467.6CYP11B2, CYP11B1, POMC, REN, NR3C2, NR3C1
43doca467.6NR3C1, NR3C2, REN, POMC, CYP11B1, CYP11B2
4411 deoxycortisol467.6NR3C1, NR3C2, REN, POMC, CYP11B1, CYP11B2
45spironolactone46 62 30 52 1211.6CYP11B2, CYP11B1, POMC, REN, NR3C2, NR3C1
46corticosterone46 62 259.6CYP11B1, POMC, REN, NR3C2, NR3C1, CYP11B2
47hydrocortisone46 3 62 1210.6CYP11B1, REN, POMC, NR3C1, CYP11B2, NR3C2
48acth467.5CYP11B1, NR3C1, NR3C2, REN, POMC, CYP11B2
49steroid467.5NR3C1, NR3C2, REN, POMC, CYP11B1, CYP11B2
50dexamethasone46 52 30 1210.5NR3C1, NR3C2, REN, POMC, CYP11B2, CYP11B1

GO Terms for genes affiliated with Glucocorticoid-Remediable Aldosteronism

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet