MCID: ALD010
MIFTS: 45

Aldosteronism, Glucocorticoid-Remediable malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases

Aliases & Classifications for Aldosteronism, Glucocorticoid-Remediable

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Aliases & Descriptions for Aldosteronism, Glucocorticoid-Remediable:

Name: Aldosteronism, Glucocorticoid-Remediable 49 11
Glucocorticoid-Remediable Aldosteronism 10 45 22 47 12 51 67 65
Familial Hyperaldosteronism Type 1 45 22 51 65
Glucocorticoid-Suppressible Hyperaldosteronism 22 67
Glucocorticoid Sensitive Hypertension 45 67
Dexamethasone Sensitive Hypertension 45 67
Familial Hyperaldosteronism Type I 51 67
Familial Hyperaldosteronism 1 67 24
Fh1 51 67
Gra 51 67
Acth-Dependent Hyperaldosteronism Syndrome 67
 
Aldosteronism, Sensitive to Dexamethasone 22
Aldosteronism Sensitive to Dexamethasone 67
Glucocorticoid-Sensitive Hypertension 51
Dexamethasone-Sensitive Hypertension 51
Hyperaldosteronism, Familial Type 1 45
Familial Aldosteronism Type I 65
Fh Type 1 67
Fh I 67
Fh-I 51
Gsh 67

Characteristics:

Orphanet epidemiological data:

51
glucocorticoid-remediable aldosteronism:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

HPO:

61
aldosteronism, glucocorticoid-remediable:
Onset and clinical course: onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 103900
Disease Ontology10 DOID:14080
ICD1027 E26.02
ICD9CM29 255.11
SNOMED-CT59 237743003
Orphanet51 403
ICD10 via Orphanet28 E26.0
MedGen34 C1260386
UMLS65 C1260386, C3838731, C1260385

Summaries for Aldosteronism, Glucocorticoid-Remediable

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NIH Rare Diseases:45 Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism and was first described in 1966. aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. it is caused by a fusion of the cyp11b1 and cyp11b2 genes and is inherited in an autosomal dominant manner. individuals with this condition usually have hypertension (high blood pressure) before age 21. these individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. first-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. this will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels. last updated: 6/12/2015

MalaCards based summary: Aldosteronism, Glucocorticoid-Remediable, also known as glucocorticoid-remediable aldosteronism, is related to hyperaldosteronism, familial, type iii and hepatocellular carcinoma, and has symptoms including adrenal hyperplasia, decreased circulating renin level and hyperaldosteronism. An important gene associated with Aldosteronism, Glucocorticoid-Remediable is CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1), and among its related pathways are Renin secretion and Aldosterone-regulated sodium reabsorption. Affiliated tissues include adrenal gland, and related mouse phenotypes are adipose tissue and nervous system.

UniProtKB/Swiss-Prot:67 Familial hyperaldosteronism 1: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension.

OMIM:49 Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable... (103900) more...

Wikipedia:68 Glucocorticoid remediable aldosteronism (GRA), also describable as aldosterone synthase hyperactivity,... more...

Related Diseases for Aldosteronism, Glucocorticoid-Remediable

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

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1hyperaldosteronism, familial, type iii10.9
2hepatocellular carcinoma10.4
3hepatitis10.4
4esophagitis10.4
5renal cell carcinoma10.4
6familial male-limited precocious puberty10.3CYP11B1, CYP11B2
7prostatitis10.3
8pancreatic cancer10.3
9pancreatitis10.3
10prostate cancer10.3
11breast cancer10.3
12abetalipoproteinemia10.3
13hepatitis b10.3
14leukemia10.3
15superficial mycosis10.3
16lymphoma10.3
17omphalocele10.3
18gastric lymphoma10.3
19renal hypertension10.3
20sarcoma10.3
21tetanus10.3
22diphtheria10.3
23choroiditis10.3
24cardiac tamponade10.3
25hypochondriasis10.3
26acute cholangitis10.3
27hantavirus pulmonary syndrome10.3
28melanoma10.3
29adenosarcoma10.3
30glomus tumor10.3
31cervicitis10.3
32hepatitis e10.3
33adenoma10.3
34carotid artery occlusion10.3
35neuronitis10.3
36cholangitis10.3
37cerebellar degeneration10.3
38paraneoplastic cerebellar degeneration10.3
39trigger thumb10.3
40uterine sarcoma10.3
41endotheliitis10.3
42coronary arterial fistulas10.3
43marden-walker syndrome10.2NR3C2, REN
44idiopathic membranous glomerulonephritis10.2AGT, REN
45spondylocostal dysostosis-anal and genitourinary malformations syndrome10.2POMC, REN
46histiocytosis10.2POMC, REN
47aortic dissection lentiginosis10.2AGT, CYP11B2
48adrenal gland pheochromocytoma10.2CYP11B1, POMC
49fibrosing mediastinitis10.2AGT, REN
50orbital granuloma10.2POMC, REN

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



Diseases related to aldosteronism, glucocorticoid-remediable

Symptoms for Aldosteronism, Glucocorticoid-Remediable

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Symptoms by clinical synopsis from OMIM:

103900

Clinical features from OMIM:

103900

HPO human phenotypes related to Aldosteronism, Glucocorticoid-Remediable:

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

Drugs & Therapeutics for Aldosteronism, Glucocorticoid-Remediable

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Drugs for Aldosteronism, Glucocorticoid-Remediable (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinapprovedPhase 349379902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
2Rosuvastatin CalciumPhase 3428147098-20-2
3Pharmaceutical SolutionsPhase 37004
4Atorvastatin CalciumPhase 3714134523-03-8
5Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 31804
6glucocorticoids3896

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy and Safety of Alirocumab (SAR236553/REGN727) Versus Placebo on Top of Lipid-Modifying Therapy in Patients With Heterozygous Familial Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying TherapyCompletedNCT01623115Phase 3
2Diagnosis/Pathophysiology of Glucocorticoid Remediable Aldosteronism HypertensionCompletedNCT00005394
3Study of Prevalence and Clinical Phenotype in Patients With Glucocorticoid-Remediable AldosteronismCompletedNCT00004354

Search NIH Clinical Center for Aldosteronism, Glucocorticoid-Remediable

Genetic Tests for Aldosteronism, Glucocorticoid-Remediable

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Genetic tests related to Aldosteronism, Glucocorticoid-Remediable:

id Genetic test Affiliating Genes
1 Glucocorticoid-Remediable Aldosteronism22 CYP11B2

Anatomical Context for Aldosteronism, Glucocorticoid-Remediable

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

33
Adrenal gland

Animal Models for Aldosteronism, Glucocorticoid-Remediable or affiliated genes

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MGI Mouse Phenotypes related to Aldosteronism, Glucocorticoid-Remediable:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.5AGT, CYP11B2, NR3C1, POMC
2MP:00036317.7AGT, CYP11B2, NR3C1, NR3C2, POMC, REN
3MP:00053697.5AGT, CYP11B1, HSD11B2, NR3C1, NR3C2, REN
4MP:00053787.2AGT, CYP11B1, CYP11B2, NR3C1, NR3C2, POMC
5MP:00053867.1AGT, CYP11B1, HSD11B2, NR3C1, NR3C2, POMC
6MP:00107687.0AGT, CYP11B1, HSD11B2, NR3C1, NR3C2, POMC
7MP:00053676.7AGT, CYP11B1, CYP11B2, HSD11B2, NR3C1, NR3C2
8MP:00053766.6AGT, CYP11B1, CYP11B2, HSD11B2, NR3C1, NR3C2
9MP:00053856.5AGT, CYP11B1, CYP11B2, HSD11B2, NR3C1, NR3C2

Publications for Aldosteronism, Glucocorticoid-Remediable

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Variations for Aldosteronism, Glucocorticoid-Remediable

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Clinvar genetic disease variations for Aldosteronism, Glucocorticoid-Remediable:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CYP11B1CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERAundetermined variantPathogenic

Expression for genes affiliated with Aldosteronism, Glucocorticoid-Remediable

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

Pathways for genes affiliated with Aldosteronism, Glucocorticoid-Remediable

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Pathways related to Aldosteronism, Glucocorticoid-Remediable according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5AGT, REN
29.4HSD11B2, NR3C2
3
Show member pathways
9.2CYP11B1, CYP11B2, POMC
4
Show member pathways
9.1CYP11B1, CYP11B2, HSD11B2
5
Show member pathways
8.7AGT, CYP11B2, NR3C2, REN
6
Show member pathways
8.7AGT, CYP11B1, POMC, REN
7
Show member pathways
8.6CYP11B1, CYP11B2, HSD11B2, POMC

GO Terms for genes affiliated with Aldosteronism, Glucocorticoid-Remediable

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Biological processes related to Aldosteronism, Glucocorticoid-Remediable according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1secondary metabolite biosynthetic processGO:004455010.1CYP11B1, CYP11B2
2aldosterone biosynthetic processGO:003234210.1CYP11B1, CYP11B2
3cholesterol metabolic processGO:000820310.1CYP11B1, CYP11B2
4renin-angiotensin regulation of aldosterone productionGO:000201810.1AGT, REN
5cortisol biosynthetic processGO:00346519.9CYP11B1, CYP11B2
6regulation of blood pressureGO:00082179.9AGT, CYP11B1
7regulation of blood volume by renin-angiotensinGO:00020169.9AGT, REN
8cellular response to potassium ionGO:00358659.9CYP11B1, CYP11B2
9cellular response to hormone stimulusGO:00328709.8CYP11B1, CYP11B2
10kidney developmentGO:00018229.7AGT, REN
11glucocorticoid biosynthetic processGO:00067049.5CYP11B1, HSD11B2
12sterol metabolic processGO:00161259.5CYP11B1, CYP11B2
13female pregnancyGO:00075659.3AGT, HSD11B2

Molecular functions related to Aldosteronism, Glucocorticoid-Remediable according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1steroid 11-beta-monooxygenase activityGO:00045079.8CYP11B1, CYP11B2

Sources for Aldosteronism, Glucocorticoid-Remediable

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet