FH1
MCID: GLC002
MIFTS: 55

Glucocorticoid-Remediable Aldosteronism (FH1) malady

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

Summaries for Glucocorticoid-Remediable Aldosteronism

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 Metabolism of steroid hormones and vitamin D and Mineralocorticoid biosynthesis. The compounds 18-hydroxycortisol and 18-oxocortisol have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotypes are renal/urinary system and hematopoietic system.

Description from OMIM:46 103900

Aliases & Classifications for Glucocorticoid-Remediable Aldosteronism

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8Disease Ontology, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 60UMLS, 9diseasecard, 20GeneTests, 22GTR, 46OMIM, 27ICD9CM, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
glucocorticoid-remediable aldosteronism:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

glucocorticoid-remediable aldosteronism 8 42 44 48 60
aldosteronism, glucocorticoid-remediable 9 20 22 46
glucocorticoid sensitive hypertension 42 48
dexamethasone sensitive hypertension 42 48
familial hyperaldosteronism type 1 42 48
hyperaldosteronism, familial type 1 42
fh1 48
gra 48


External Ids:

Disease Ontology8 DOID:14080
ICD9CM27 255.11
OMIM46 103900
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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1hypertension31.0CYP11B1, REN, NR3C2, ADD1, WNK4, CYP11B2
2hyperaldosteronism30.6NR3C2, REN, CYP11B1, CYP11B2, POMC, KCNJ5
3apparent mineralocorticoid excess syndrome30.4NR3C2
4adenoma30.3NR3C2, REN, POMC, KCNJ5, CYP11B1, CYP11B2
5intracranial aneurysm10.3
6hyperaldosteronism, familial, type iii10.3
7elephantiasis10.0
8acth deficiency10.0POMC
9liddle syndrome10.0WNK4
10low renin hypertension10.0REN, CYP11B2
11hypertensive heart disease10.0NR3C2
12hyperandrogenism10.0NR3C1, POMC
13polycystic ovary syndrome10.0POMC, NR3C2
14nephrotic syndrome10.0POMC, NR3C1
15pseudohypoaldosteronism type ii10.0WNK4
16acth-secreting pituitary adenoma10.0POMC, NR3C1
17gynecomastia10.0NR3C2
18nelson syndrome10.0NR3C1, POMC
19coronary heart disease10.0ADD1, NR3C1
20precocious puberty10.0CYP11B1, POMC
21hypoaldosteronism10.0CYP11B2, REN, POMC
22adrenocortical carcinoma10.0CYP11B1, POMC, CYP11B2
23addison's disease10.0POMC, REN, CYP11B2
24adrenal adenoma10.0REN, POMC, CYP11B1
25cushing's syndrome10.0NR3C1, POMC, NR3C2
26adrenal gland hyperfunction10.0NR3C2, POMC, NR3C1
27atherosclerosis10.0NR3C2, ADD1
28congestive heart failure10.0NR3C2, CYP11B2, REN
29hypoglycemia10.0KCNJ5, POMC
30mood disorder10.0NR3C2, NR3C1, POMC
31acute myocardial infarction10.0KCNJ5, NR3C2
32pseudohypoaldosteronism10.0REN, WNK4, NR3C2
33insulin resistance10.0NR3C2, ADD1, NR3C1
34pre-eclampsia10.0NR3C2, CYP11B2, REN, NR3C1
35chronic kidney failure10.0REN, CYP11B2, NR3C2
36primary hyperoxaluria10.0ADD1, NR3C2, REN
37metabolic acidosis10.0REN, NR3C2, WNK4
38polycystic kidney disease, autosomal dominant10.0ADD1, REN
39sudden cardiac death multi-gene panels10.0NR3C2, KCNJ5
40congenital adrenal hyperplasia10.0POMC, REN, NR3C1, CYP11B2, CYP11B1
41conn's syndrome10.0NR3C2, POMC, CYP11B1, CYP11B2, REN
42lung small cell carcinoma10.0NR3C1, POMC, NR3C2
43hypokalemia10.0REN, NR3C2, POMC, CYP11B2, NR3C1
44congenital heart defect10.0KCNJ5, REN, NR3C2, CYP11B2
45proteinuria10.0NR3C1, NR3C2, CYP11B2, ADD1, REN
46hypertrophy of breast10.0REN, KCNJ5, CYP11B2, NR3C2
47obesity10.0NR3C1, POMC, NR3C2, KCNJ5
48diabetes mellitus10.0KCNJ5, POMC, REN, NR3C2, NR3C1
49cadasil10.0ADD1, REN, KCNJ5, NR3C2, CYP11B1
50myocardial infarction10.0ADD1, REN, CYP11B2, NR3C2, KCNJ5

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



Diseases related to glucocorticoid-remediable aldosteronism

Clinical Features for Glucocorticoid-Remediable Aldosteronism

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46OMIM
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Clinical features from OMIM:

103900

Clinical synopsis from OMIM:

103900

Drugs & Therapeutics for Glucocorticoid-Remediable Aldosteronism

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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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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32MalaCards
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MalaCards organs/tissues related to Glucocorticoid-Remediable Aldosteronism:

32
Testes

Animal Models for Glucocorticoid-Remediable Aldosteronism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Glucocorticoid-Remediable Aldosteronism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.9WNK4, NR3C2, NR3C1, POMC, CYP11B1, CYP11B2
2MP:00053977.9NR3C1, POMC, CYP11B1, REN, ADD1, NR3C2
3MP:00053857.2KCNJ5, NR3C2, NR3C1, POMC, CYP11B1, CYP11B2
4MP:00053766.8NR3C2, NR3C1, POMC, CYP11B1, CYP11B2, REN

Publications for Glucocorticoid-Remediable Aldosteronism

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50PubMed
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Articles related to Glucocorticoid-Remediable Aldosteronism:

(show all 42)
idTitleAuthorsYear
1
Delayed arterial switch operation for d-transposition of the great arteries and glucocorticoid remediable aldosteronism. (23804991)
2011
2
Glucocorticoid-remediable aldosteronism. (21565670)
2011
3
Diagnosis of glucocorticoid-remediable aldosteronism in hypertensive children. (21625068)
2011
4
Genetic analyses of the chimeric CYP11B1/CYP11B2 gene in a Korean family with glucocorticoid-remediable aldosteronism. (20808686)
2010
5
A German family with glucocorticoid-remediable aldosteronism. (17277347)
2007
6
Genetic screening for glucocorticoid-remediable aldosteronism (GRA): experience of three clinical centres in Poland. (16110193)
2005
7
Glucocorticoid remediable aldosteronism (GRA) screening in hypertensive patients from a primary care setting. (15660117)
2005
8
Glucocorticoid-remediable aldosteronism. (14667264)
2004
9
Coexistence of different phenotypes in a family with glucocorticoid-remediable aldosteronism. (14688810)
2004
10
Non-glucocorticoid-remediable aldosteronism in an infant with low-renin hypertension. (14648333)
2004
11
Glucocorticoid-remediable aldosteronism. (15761539)
2004
12
Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation italian pedigree. (12107222)
2002
13
Clinical and gene mutation studies on a Chinese pedigree with glucocorticoid-remediable aldosteronism. (12150724)
2002
14
Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. (11343049)
2001
15
Is random screening of value in detecting glucocorticoid-remediable aldosteronism within a hypertensive population? (11317201)
2001
16
Japanese family with glucocorticoid-remediable aldosteronism diagnosed by long-polymerase chain reaction. (11675955)
2001
17
Glucocorticoid-remediable aldosteronism and pregnancy. (10679515)
2000
18
Glucocorticoid-remediable aldosteronism. (10599685)
1999
19
Abolished nocturnal blood pressure fall in a boy with glucocorticoid-remediable aldosteronism. (10618671)
1999
20
Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. (9453343)
1998
21
Diagnosis of glucocorticoid-remediable aldosteronism in primary aldosteronism: aldosterone response to dexamethasone and long polymerase chain reaction for chimeric gene. (9661646)
1998
22
Rapid diagnosis and identification of cross-over sites in patients with glucocorticoid remediable aldosteronism. (9851772)
1998
23
Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. (9360508)
1997
24
Potassium and aldosterone secretion in glucocorticoid-remediable aldosteronism. (9398755)
1997
25
Impaired potassium-stimulated aldosterone production: a possible explanation for normokalemic glucocorticoid-remediable aldosteronism. (9141541)
1997
26
Glucocorticoid remediable aldosteronism: a case report. (9178594)
1997
27
Glucocorticoid-remediable aldosteronism. (8759241)
1996
28
Variation of phenotype in patients with glucocorticoid remediable aldosteronism. (8825044)
1996
29
Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimeric gene duplications. (8954032)
1996
30
Glucocorticoid-remediable aldosteronism. (8565422)
1995
31
Glucocorticoid remediable aldosteronism: a rare hereditary form of adrenocorticotropic hormone regulated mineralocorticoid hypertension. (7609119)
1995
32
Glucocorticoid-remediable aldosteronism (GRA): diagnosis, variability of phenotype and regulation of potassium homeostasis. (7792815)
1995
33
Glucocorticoid-remediable aldosteronism. (9221269)
1995
34
Abnormality of aldosterone and cortisol late pathways in glucocorticoid-remediable aldosteronism. (8077359)
1994
35
Glucocorticoid-remediable aldosteronism. (8070423)
1994
36
The molecular basis of a hereditary form of hypertension, glucocorticoid-remediable aldosteronism. (18407135)
1993
37
The molecular basis of glucocorticoid-remediable aldosteronism, a Mendelian cause of human hypertension. (1309006)
1992
38
Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. (1567095)
1992
39
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. (1731223)
1992
40
Two uncommon causes of mineralocorticoid excess. Syndrome of apparent mineralocorticoid excess and glucocorticoid-remediable aldosteronism. (1879399)
1991
41
Defective fasciculata zone function as the mechanism of glucocorticoid-remediable aldosteronism. (2172271)
1990
42
Non-tumorous "primary" aldosteronism. I. Type relieved by glucocorticoid (glucocorticoid-remediable aldosteronism). (5793351)
1969

Genetic Variations for Glucocorticoid-Remediable Aldosteronism

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Expression for genes affiliated with Glucocorticoid-Remediable Aldosteronism

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1BioGPS, 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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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 49PharmGKB
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Compounds for genes affiliated with Glucocorticoid-Remediable Aldosteronism

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

(show top 50)    (show all 88)
idCompoundScoreTop Affiliating Genes
118-hydroxycortisol4410.1CYP11B2, CYP11B1
218-oxocortisol4410.1CYP11B2, CYP11B1
318-hydroxydeoxycorticosterone4410.1CYP11B2, CYP11B1
421-deoxycortisol44 2410.9CYP11B2, POMC, CYP11B1
5etomidate44 1110.9CYP11B2, CYP11B1, POMC
6metoclopramide44 1110.9REN, CYP11B1, CYP11B2
7tetrahydroaldosterone449.8REN, NR3C2, CYP11B2
8potassium canrenoate449.8NR3C1, NR3C2
9fluconazole44 1110.7CYP11B1, NR3C1, POMC
10glycyrrhetinic acid44 2410.7NR3C1, NR3C2, REN
11glycyrrhizin44 2810.7REN, NR3C1, NR3C2
12aminoglutethimide44 1110.7POMC, NR3C2, NR3C1
1318-hydroxycorticosterone44 2410.7CYP11B2, CYP11B1, REN, POMC
14carbenoxolone28 44 1111.6REN, NR3C1, NR3C2
1517-hydroxyprogesterone44 2410.6REN, CYP11B1, CYP11B2, POMC
16androstenedione44 2410.6POMC, CYP11B1, REN, CYP11B2
17deoxycorticosterone28 2410.5CYP11B2, NR3C1, NR3C2, CYP11B1
18aldosterone28 11 2411.5CYP11B2, CYP11B1, NR3C1, NR3C2
193beta-hydroxysteroid449.5CYP11B1, POMC, NR3C2, CYP11B2
20eplerenone44 59 28 1112.5NR3C2, REN, CYP11B2, NR3C1
21ketoconazole44 28 11 2412.5POMC, NR3C1, CYP11B1
22dhea449.4NR3C2, CYP11B2, POMC, NR3C1
23fluticasone propionate44 49 59 1112.4NR3C2, NR3C1, POMC
24cortisol28 2410.2POMC, NR3C2, NR3C1, CYP11B1, CYP11B2
25metyrapone59 44 1111.2NR3C1, POMC, CYP11B1, CYP11B2, NR3C2
26cortisone44 2410.2CYP11B2, CYP11B1, POMC, NR3C1, NR3C2
27fludrocortisone44 28 1111.2REN, CYP11B2, POMC, NR3C1, NR3C2
28ang ii449.1NR3C2, CYP11B2, REN
29estradiol44 11 2411.0NR3C2, NR3C1, POMC, CYP11B1, REN
30hydrochlorothiazide44 49 28 11 2413.0CYP11B2, NR3C2, ADD1, REN
3111 deoxycortisol448.9NR3C2, POMC, CYP11B1, CYP11B2, REN, NR3C1
32doca448.9REN, CYP11B1, NR3C2, NR3C1, CYP11B2, POMC
33furosemide44 49 59 28 11 2413.9REN, POMC, ADD1
3411beta-hydroxysteroid448.9CYP11B2, NR3C1, REN, CYP11B1, POMC, NR3C2
35haloperidol44 28 2 49 1112.9REN, CYP11B2, NR3C2, KCNJ5, POMC
36corticosterone44 59 2410.9CYP11B2, REN, NR3C1, NR3C2, POMC, CYP11B1
37hydrocortisone44 2 59 1111.9NR3C1, NR3C2, POMC, CYP11B2, REN, CYP11B1
38acth448.9POMC, CYP11B1, REN, NR3C1, NR3C2, CYP11B2
39thiazide448.8REN, WNK4, ADD1, NR3C2
40norepinephrine44 11 2410.8REN, KCNJ5, NR3C2, POMC, CYP11B2
41steroid448.8CYP11B2, NR3C2, NR3C1, POMC, CYP11B1, REN
42dexamethasone44 49 28 1111.8REN, CYP11B2, CYP11B1, NR3C2, POMC, NR3C1
43arginine448.7NR3C2, REN, CYP11B2, CYP11B1, POMC, CPN1
44dopamine44 28 11 2411.5NR3C1, KCNJ5, REN, POMC, NR3C2
45testosterone44 59 11 2411.5POMC, CYP11B2, NR3C1, CYP11B1, KCNJ5, NR3C2
46lysine448.4KCNJ5, NR3C2, CYP11B2, WNK4, CPN1
47spironolactone49 44 59 28 1112.1ADD1, NR3C1, REN, NR3C2, CYP11B2, CYP11B1
48glucose447.7REN, ADD1, CYP11B2, POMC, NR3C2, KCNJ5
49potassium44 11 249.6KCNJ5, WNK4, NR3C2, CYP11B1, CYP11B2, ADD1
50sodium44 248.6NR3C2, CYP11B2, CYP11B1, KCNJ5, WNK4, ADD1

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 8)
idNameGO IDScoreTop Affiliating Genes
1aldosterone biosynthetic processGO:03234210.1CYP11B1, CYP11B2
2cortisol biosynthetic processGO:03465110.0CYP11B2, CYP11B1
3mineralocorticoid biosynthetic processGO:00670510.0CYP11B1, CYP11B2
4cellular response to potassium ionGO:0358659.9CYP11B2, CYP11B1
5cellular response to hormone stimulusGO:0328709.9CYP11B2, CYP11B1
6C21-steroid hormone biosynthetic processGO:0067009.8CYP11B2, CYP11B1
7regulation of blood pressureGO:0082179.6POMC, CYP11B1, REN
8sterol metabolic processGO:0161259.6CYP11B2, CYP11B1

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

idNameGO IDScoreTop Affiliating Genes
1steroid bindingGO:0054969.7NR3C1, NR3C2
2steroid 11-beta-monooxygenase activityGO:0045079.6CYP11B2, CYP11B1

Products for genes affiliated with Glucocorticoid-Remediable Aldosteronism

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Sources for Glucocorticoid-Remediable Aldosteronism

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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