FH1
MCID: GLC002
MIFTS: 59

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

MalaCards based summary: Glucocorticoid-Remediable Aldosteronism, also known as aldosteronism, glucocorticoid-remediable, is related to low renin hypertension and hyperaldosteronism, and has symptoms including 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:46 103900

Aliases & Classifications for Glucocorticoid-Remediable Aldosteronism

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 27ICD9CM, 26ICD10 via Orphanet
See all sources

Glucocorticoid-Remediable Aldosteronism, Aliases & Descriptions:

Name: Glucocorticoid-Remediable Aldosteronism 8 42 44 48 62
Aldosteronism, Glucocorticoid-Remediable 9 20 22 46
Glucocorticoid Sensitive Hypertension 42 48
Dexamethasone Sensitive Hypertension 42 48
Familial Hyperaldosteronism Type I 48 62
Hyperaldosteronism, Familial Type 1 42
 
Familial Hyperaldosteronism Type 1 42
Fh I 62
Fh-I 48
Gra 48
Fh1 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1low renin hypertension30.8CYP11B2, REN
2hyperaldosteronism30.1POMC, REN, NR3C2, CYP11B1, CYP11B2
3hypertension30.0NR3C1, REN, NR3C2, POMC, CYP11B1, CYP11B2
4adenoma29.8CYP11B2, REN, POMC, CYP11B1, NR3C2
5familial hyperaldosteronism10.5
6acute adrenal insufficiency10.4POMC
7intracranial aneurysm10.3
8transposition of the great arteries10.3
9hyperaldosteronism, familial, type iii10.3
10aneurysm10.3
11spondylosis10.2
12cervicitis10.2
13pseudohypoaldosteronism type ii10.2NR3C2, REN
14pseudohypoaldosteronism10.1REN, NR3C2
15renal fibrosis10.1REN, NR3C2
16precocious puberty10.1CYP11B1, POMC
17metabolic acidosis10.1REN, NR3C2
18elephantiasis10.0
19nonalcoholic steatohepatitis10.0
20polycystic ovary syndrome10.0NR3C2, POMC
21congestive heart failure10.0CYP11B2, REN, NR3C2
22acth-secreting pituitary adenoma10.0NR3C1, POMC
23adrenocortical carcinoma10.0CYP11B2, CYP11B1, POMC
24nelson syndrome10.0NR3C1, POMC
25chronic kidney failure10.0CYP11B2, REN, NR3C2
26chronic fatigue syndrome10.0NR3C1, POMC
27hypoaldosteronism10.0CYP11B2, REN, POMC
28congenital heart disease10.0POMC, NR3C2
29addison's disease10.0POMC, REN, CYP11B2
30myocardial infarction10.0CYP11B2, REN, NR3C2
31adrenal cortical adenoma9.9POMC, REN, CYP11B1
32cerebrovascular disease9.9CYP11B1, NR3C2, REN
33primary hyperoxaluria9.9NR3C2, CYP11B2, REN
34hyperandrogenism9.9NR3C1, POMC
35diabetic nephropathy9.9REN, NR3C2
36breast cancer9.9NR3C2, NR3C1
37nephrotic syndrome9.9POMC, NR3C1
38pituitary adenoma9.8POMC, NR3C1
39cushing's syndrome9.8NR3C2, POMC, NR3C1
40adrenal gland hyperfunction9.8POMC, NR3C2, NR3C1
41adrenal adenoma9.8CYP11B1, CYP11B2, POMC, REN
42mood disorder9.8POMC, NR3C1, NR3C2
43lung small cell carcinoma9.7NR3C2, NR3C1, POMC
44obesity9.7NR3C2, NR3C1, POMC
45liddle syndrome9.7CYP11B2, REN, NR3C2, NR3C1
46proteinuria9.7NR3C1, NR3C2, REN, CYP11B2
47pre-eclampsia9.6CYP11B2, NR3C1, REN, NR3C2
48conn's syndrome9.6NR3C2, REN, POMC, CYP11B1, CYP11B2
49diabetes mellitus9.5NR3C1, POMC, REN, NR3C2
50essential hypertension9.5NR3C2, CYP11B1, CYP11B2, REN, 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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Symptoms by clinical synopsis from OMIM:

103900

Clinical features from OMIM:

103900

HPO human phenotypes related to Glucocorticoid-Remediable Aldosteronism:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of the urinary system HP:0000079
3 hypertension HP:0000822
4 adrenogenital syndrome HP:0000840
5 hyperaldosteronism HP:0000859
6 decreased circulating renin level HP:0003351
7 onset HP:0003674
8 adrenal hyperplasia HP:0008221

Drugs & Therapeutics for Glucocorticoid-Remediable Aldosteronism

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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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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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MalaCards organs/tissues related to Glucocorticoid-Remediable Aldosteronism:

32
Testes

Animal Models for Glucocorticoid-Remediable Aldosteronism or affiliated genes

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Publications for Glucocorticoid-Remediable Aldosteronism

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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

Variations for Glucocorticoid-Remediable Aldosteronism

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Clinvar genetic disease variations for Glucocorticoid-Remediable Aldosteronism:

6
id Gene Name Type Significance SNP ID Assembly Location
1CYP11B1CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERAundetermined variantPathogenic

Expression for genes affiliated with Glucocorticoid-Remediable Aldosteronism

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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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Pathways related to Glucocorticoid-Remediable Aldosteronism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
estradiol biosynthesis II37
androgen biosynthesis37
estradiol biosynthesis I37
progesterone biosynthesis37
9.6CYP11B2, CYP11B1
2
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism37
9.6CYP11B2, CYP11B1
39.4CYP11B1, POMC
4
Show member pathways
9.3POMC, REN
5
Show member pathways
Nuclear Receptors37
9.1NR3C2, NR3C1
69.0NR3C1, POMC
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
9.0REN, NR3C2, CYP11B2

Compounds for genes affiliated with Glucocorticoid-Remediable Aldosteronism

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Compounds related to Glucocorticoid-Remediable Aldosteronism according to GeneCards/GeneDecks:

(show top 50)    (show all 111)
idCompoundScoreTop Affiliating Genes
118-hydroxycortisol449.8CYP11B2, CYP11B1
218-hydroxydeoxycorticosterone449.8CYP11B1, CYP11B2
319-Hydroxydeoxycorticosterone249.8CYP11B1, CYP11B2
419-oic-deoxycorticosterone249.8CYP11B1, CYP11B2
519-Oxo-deoxycorticosterone249.7CYP11B2, CYP11B1
618-oxocortisol449.6CYP11B2, CYP11B1
7metoclopramide44 50 1111.4REN, CYP11B1, CYP11B2
8tetrahydroaldosterone449.4NR3C2, REN, CYP11B2
921-deoxycortisol44 2410.4CYP11B1, POMC, CYP11B2
10etomidate44 1110.4CYP11B2, POMC, CYP11B1
11hydrochlorothiazide44 28 50 24 1113.3CYP11B2, NR3C2, REN
12ang ii449.2NR3C2, CYP11B2, REN
13potassium canrenoate449.2NR3C2, NR3C1
14glycyrrhetinic acid44 2410.0NR3C1, REN, NR3C2
15glycyrrhizin44 2810.0NR3C2, NR3C1, REN
16fluconazole44 119.9POMC, NR3C1, CYP11B1
17carbenoxolone44 28 1110.9NR3C1, NR3C2, REN
1818-hydroxycorticosterone44 249.9CYP11B2, POMC, CYP11B1, REN
1917-hydroxyprogesterone44 249.9POMC, REN, CYP11B2, CYP11B1
20aminoglutethimide44 119.9NR3C1, NR3C2, POMC
213beta-hydroxysteroid448.9NR3C2, POMC, CYP11B1, CYP11B2
22androstenedione44 249.8REN, CYP11B2, CYP11B1, POMC
23fluticasone propionate44 50 61 1111.8NR3C1, POMC, NR3C2
24ribonucleic acid448.7POMC, NR3C2, CYP11B1, CYP11B2
25haloperidol44 50 28 2 1112.7CYP11B2, NR3C2, POMC, REN
26deoxycorticosterone28 249.7NR3C1, NR3C2, CYP11B1, CYP11B2
27Cortexolone248.7CYP11B2, NR3C1, CYP11B1, NR3C2
28aldosterone28 24 1110.7CYP11B2, CYP11B1, NR3C2, NR3C1
29eplerenone44 61 28 1111.6REN, CYP11B2, NR3C1, NR3C2
30potassium44 24 1110.6CYP11B2, REN, NR3C2, CYP11B1
31ketoconazole44 28 24 1111.5CYP11B1, POMC, NR3C1
32dhea448.4NR3C1, CYP11B2, POMC, NR3C2
33arginine448.2CYP11B1, NR3C2, REN, CYP11B2, POMC
34cortisol28 249.1CYP11B2, CYP11B1, NR3C1, NR3C2, POMC
35cortisone44 249.1NR3C2, NR3C1, CYP11B2, CYP11B1, POMC
36metyrapone44 61 1110.1NR3C1, POMC, CYP11B1, CYP11B2, NR3C2
37norepinephrine44 24 1110.1CYP11B2, REN, NR3C2, POMC
38progesterone44 28 61 24 1112.0CYP11B2, CYP11B1, NR3C2, NR3C1, POMC
39fludrocortisone44 28 1110.0CYP11B2, NR3C2, NR3C1, POMC, REN
40testosterone44 61 24 1111.0POMC, CYP11B1, CYP11B2, NR3C2, NR3C1
41estradiol44 24 119.9NR3C1, NR3C2, REN, CYP11B1, POMC
4211beta-hydroxysteroid447.6CYP11B2, CYP11B1, POMC, REN, NR3C2, NR3C1
43doca447.6NR3C1, NR3C2, REN, POMC, CYP11B1, CYP11B2
4411 deoxycortisol447.6NR3C1, NR3C2, REN, POMC, CYP11B1, CYP11B2
45spironolactone44 61 28 50 1111.6CYP11B2, CYP11B1, POMC, REN, NR3C2, NR3C1
46corticosterone44 61 249.6CYP11B1, POMC, REN, NR3C2, NR3C1, CYP11B2
47hydrocortisone44 2 61 1110.6CYP11B1, REN, POMC, NR3C1, CYP11B2, NR3C2
48acth447.5CYP11B1, NR3C1, NR3C2, REN, POMC, CYP11B2
49steroid447.5NR3C1, NR3C2, REN, POMC, CYP11B1, CYP11B2
50dexamethasone44 50 28 1110.5NR3C1, NR3C2, REN, POMC, CYP11B2, CYP11B1

GO Terms for genes affiliated with Glucocorticoid-Remediable Aldosteronism

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet