FH1
MCID: GLC002
MIFTS: 46

Glucocorticoid-Remediable Aldosteronism (FH1) malady

Cardiovascular, Nephrological, Endocrine, Genetic categories

Summaries for Glucocorticoid-Remediable Aldosteronism

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Glucocorticoid remediable aldosteronism (GRA), also describable as aldosterone synthase hyperactivity,... more...

MalaCards: Glucocorticoid-Remediable Aldosteronism, also known as aldosteronism, glucocorticoid-remediable, is related to apparent mineralocorticoid excess syndrome and adenoma. 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. Related mouse phenotypes are renal/urinary system and hematopoietic system.

Description from OMIM:47 103900

Aliases & Classifications for Glucocorticoid-Remediable Aldosteronism

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 27ICD9CM, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Cardiovascular, Nephrological, Endocrine


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

glucocorticoid-remediable aldosteronism 8 43 45 49 61
aldosteronism, glucocorticoid-remediable 9 20 22 47
glucocorticoid sensitive hypertension 43 49
dexamethasone sensitive hypertension 43 49
familial hyperaldosteronism type 1 43 49
hyperaldosteronism, familial type 1 43
fh1 49
gra 49


External Ids:

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

Related Diseases for Glucocorticoid-Remediable Aldosteronism

Sources:
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 53)
idRelated DiseaseScoreTop Affiliating Genes
1apparent mineralocorticoid excess syndrome30.4NR3C2
2adenoma30.4NR3C2, REN, POMC, KCNJ5, CYP11B1, CYP11B2
3familial hyperaldosteronism10.4
4intracranial aneurysm10.3
5hyperaldosteronism, familial, type iii10.3
6stroke, hemorrhagic10.3
7nonalcoholic steatohepatitis10.0
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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

103900

Clinical synopsis from OMIM:

103900

Drugs & Therapeutics for Glucocorticoid-Remediable Aldosteronism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Animal Models for Glucocorticoid-Remediable Aldosteronism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Glucocorticoid-Remediable Aldosteronism:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.9NR3C2, NR3C1, POMC, CYP11B1, CYP11B2, REN
2MP:00053977.9REN, CYP11B1, POMC, NR3C1, NR3C2, ADD1
3MP:00053857.2WNK4, NR3C1, REN, CYP11B2, CYP11B1, POMC
4MP:00053766.8NR3C1, NR3C2, ADD1, POMC, CYP11B1, CYP11B2

Publications for Glucocorticoid-Remediable Aldosteronism

Sources:
51PubMed
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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

Expression for genes affiliated with Glucocorticoid-Remediable Aldosteronism

Sources:
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

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 50PharmGKB
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Compounds for genes affiliated with Glucocorticoid-Remediable Aldosteronism

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB, 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-hydroxycortisol4510.1CYP11B2, CYP11B1
218-oxocortisol4510.1CYP11B2, CYP11B1
318-hydroxydeoxycorticosterone4510.1CYP11B2, CYP11B1
421-deoxycortisol45 2410.9CYP11B2, POMC, CYP11B1
5etomidate45 1110.9CYP11B2, CYP11B1, POMC
6metoclopramide45 1110.9REN, CYP11B1, CYP11B2
7tetrahydroaldosterone459.8REN, NR3C2, CYP11B2
8potassium canrenoate459.8NR3C1, NR3C2
9fluconazole45 1110.7CYP11B1, NR3C1, POMC
10glycyrrhetinic acid45 2410.7NR3C1, NR3C2, REN
11glycyrrhizin45 2910.7REN, NR3C1, NR3C2
12aminoglutethimide45 1110.7POMC, NR3C2, NR3C1
1318-hydroxycorticosterone45 2410.7CYP11B2, CYP11B1, REN, POMC
14carbenoxolone29 45 1111.6REN, NR3C1, NR3C2
1517-hydroxyprogesterone45 2410.6REN, CYP11B1, CYP11B2, POMC
16androstenedione45 2410.6POMC, CYP11B1, REN, CYP11B2
17deoxycorticosterone29 2410.5CYP11B2, NR3C1, NR3C2, CYP11B1
18aldosterone29 11 2411.5CYP11B2, CYP11B1, NR3C1, NR3C2
193beta-hydroxysteroid459.5CYP11B1, POMC, NR3C2, CYP11B2
20eplerenone45 60 29 1112.5NR3C2, REN, CYP11B2, NR3C1
21ketoconazole45 29 11 2412.5POMC, NR3C1, CYP11B1
22dhea459.4NR3C2, CYP11B2, POMC, NR3C1
23fluticasone propionate45 50 60 1112.4NR3C2, NR3C1, POMC
24cortisol29 2410.2POMC, NR3C2, NR3C1, CYP11B1, CYP11B2
25metyrapone60 45 1111.2NR3C1, POMC, CYP11B1, CYP11B2, NR3C2
26cortisone45 2410.2CYP11B2, CYP11B1, POMC, NR3C1, NR3C2
27fludrocortisone45 29 1111.2REN, CYP11B2, POMC, NR3C1, NR3C2
28ang ii459.1NR3C2, CYP11B2, REN
29estradiol45 11 2411.0NR3C2, NR3C1, POMC, CYP11B1, REN
30hydrochlorothiazide45 50 29 11 2413.0CYP11B2, NR3C2, ADD1, REN
3111 deoxycortisol458.9NR3C2, POMC, CYP11B1, CYP11B2, REN, NR3C1
32doca458.9REN, CYP11B1, NR3C2, NR3C1, CYP11B2, POMC
33furosemide45 50 60 29 11 2413.9REN, POMC, ADD1
3411beta-hydroxysteroid458.9CYP11B2, NR3C1, REN, CYP11B1, POMC, NR3C2
35haloperidol45 29 2 50 1112.9REN, CYP11B2, NR3C2, KCNJ5, POMC
36corticosterone45 60 2410.9CYP11B2, REN, NR3C1, NR3C2, POMC, CYP11B1
37hydrocortisone45 2 60 1111.9NR3C1, NR3C2, POMC, CYP11B2, REN, CYP11B1
38acth458.9POMC, CYP11B1, REN, NR3C1, NR3C2, CYP11B2
39thiazide458.8REN, WNK4, ADD1, NR3C2
40norepinephrine45 11 2410.8REN, KCNJ5, NR3C2, POMC, CYP11B2
41steroid458.8CYP11B2, NR3C2, NR3C1, POMC, CYP11B1, REN
42dexamethasone45 50 29 1111.8REN, CYP11B2, CYP11B1, NR3C2, POMC, NR3C1
43arginine458.7NR3C2, REN, CYP11B2, CYP11B1, POMC, CPN1
44dopamine45 29 11 2411.5NR3C1, KCNJ5, REN, POMC, NR3C2
45testosterone45 60 11 2411.5POMC, CYP11B2, NR3C1, CYP11B1, KCNJ5, NR3C2
46lysine458.4KCNJ5, NR3C2, CYP11B2, WNK4, CPN1
47spironolactone50 45 60 29 1112.1ADD1, NR3C1, REN, NR3C2, CYP11B2, CYP11B1
48glucose457.7REN, ADD1, CYP11B2, POMC, NR3C2, KCNJ5
49potassium45 11 249.6KCNJ5, WNK4, NR3C2, CYP11B1, CYP11B2, ADD1
50sodium45 248.6NR3C2, CYP11B2, CYP11B1, KCNJ5, WNK4, ADD1

GO Terms for genes affiliated with Glucocorticoid-Remediable Aldosteronism

Sources:
16Gene Ontology
See all sources

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet