MCID: ALD010
MIFTS: 48

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 52 12
Glucocorticoid-Remediable Aldosteronism 52 11 48 24 54 70 50 39 13 68
Familial Hyperaldosteronism Type 1 48 24 54 68
Glucocorticoid-Suppressible Hyperaldosteronism 24 70
Glucocorticoid Sensitive Hypertension 48 70
Dexamethasone Sensitive Hypertension 48 70
Familial Hyperaldosteronism Type I 54 70
Familial Hyperaldosteronism 1 70 27
Fh1 54 70
Gra 54 70
Acth-Dependent Hyperaldosteronism Syndrome 70
Aldosteronism, Sensitive to Dexamethasone 24
 
Aldosteronism Sensitive to Dexamethasone 70
Glucocorticoid-Sensitive Hypertension 54
Dexamethasone-Sensitive Hypertension 54
Hyperaldosteronism, Familial Type 1 48
Hyperaldosteronism, Familial, 1 70
Familial Aldosteronism Type I 68
Fh Type 1 70
Hald1 70
Fh I 70
Fh-I 54
Gsh 70

Characteristics:

Orphanet epidemiological data:

54
glucocorticoid-remediable aldosteronism:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

HPO:

64
aldosteronism, glucocorticoid-remediable:
Inheritance: autosomal dominant inheritance
Onset and clinical course: onset

Classifications:



External Ids:

OMIM52 103900
Disease Ontology11 DOID:14080
ICD1030 E26.02
ICD9CM32 255.11
SNOMED-CT62 237743003
NCIt45 C123248
Orphanet54 ORPHA403
ICD10 via Orphanet31 E26.0
MedGen37 C1260386

Summaries for Aldosteronism, Glucocorticoid-Remediable

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NIH Rare Diseases:48 Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism. 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 hypodermyasis, and has symptoms including Array, Array and Array. 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 Increased transferrin (TF) endocytosis and adipose tissue.

UniProtKB/Swiss-Prot:70 Hyperaldosteronism, familial, 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:52 Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable... (103900) more...

Wikipedia:71 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 92)
idRelated DiseaseScoreTop Affiliating Genes
1hyperaldosteronism, familial, type iii11.2
2hypodermyasis10.4CYP11B2, REN
3dystonia 2510.3NR3C2, REN
4carotid artery disease10.2POMC, REN
5ovarian cancer10.2AGT, REN
6gallbladder adenoma10.2POMC, REN
7aortic valves stenosis of the child10.2AGT, CYP11B2
8vasculogenic impotence10.2POMC, REN
9dressler's syndrome10.2POMC, REN
10chylocele of tunica vaginalis10.2AGT, REN
11actinic lichen planus10.2POMC, REN
12plica syndrome10.2AGT, REN
13renal tubular dysgenesis10.2AGT, REN
14craniopharyngioma10.2POMC, REN
15astrakhan spotted fever10.1POMC, REN
16cystinosis10.1AGT, REN
17spinal canal and spinal cord meningioma10.1CYP11B2, REN
18chancroid10.1POMC, REN
19retinal vein occlusion10.1NR3C2, REN
20paget disease of bone 410.1NR3C1, NR3C2
21hyperaldosteronism10.1
22familial hyperaldosteronism10.1
23episodic kinesigenic dyskinesia 210.1AGT, REN
24prosopagnosia10.1NR3C1, POMC
25endotheliitis10.0
26cold-induced sweating syndrome 210.0NR3C1, POMC
27peritoneal mesothelioma10.0CYP11B1, CYP11B2, POMC
28perrault syndrome10.0NR3C2, REN
29blepharitis10.0POMC, REN
30adrenal cortex disease10.0CYP11B1, POMC, REN
31hypoglycemic coma9.9NR3C1, POMC
32male reproductive organ benign neoplasm9.9CYP11B2, POMC, REN
33neuroblastoma9.9
34survival motor neuron spinal muscular atrophy9.9POMC, REN
35apparent mineralocorticoid excess9.9
36intracranial aneurysm9.9
37adenoma9.9
38transposition of the great arteries9.9
39aneurysm9.9
40benign hypertensive renal disease9.9AGT, CYP11B2, NR3C2
41persistent hyperplastic primary vitreous9.9NR3C1, POMC
42corpus luteum cyst9.8HSD11B2, POMC
43lung cancer9.8
44breast cancer9.8
45cystic fibrosis9.8
46neuronitis9.8
47hiv-19.7
48glioma9.7
49chronic salpingo-oophoritis9.7NR3C1, POMC, REN
50priapism9.7HSD11B2, NR3C1

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



Diseases related to aldosteronism, glucocorticoid-remediable

Symptoms & Phenotypes for Aldosteronism, Glucocorticoid-Remediable

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Symptoms by clinical synopsis from OMIM:

103900

Clinical features from OMIM:

103900

Human phenotypes related to Aldosteronism, Glucocorticoid-Remediable:

 54 64 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension64 54 Obligate (100%) HP:0000822
2 dexamethasone-suppresible primary hyperaldosteronism54 Obligate (100%)
3 adrenal hyperplasia64 54 Very frequent (99-80%) HP:0008221
4 abnormal circulating renin54 Very frequent (99-80%)
5 tinnitus54 Occasional (29-5%)
6 epistaxis54 Occasional (29-5%)
7 muscle weakness54 Occasional (29-5%)
8 polydipsia54 Occasional (29-5%)
9 nausea54 Occasional (29-5%)
10 intracranial hemorrhage54 Occasional (29-5%)
11 headache54 Occasional (29-5%)
12 hypokalemia54 Occasional (29-5%)
13 caesarian section54 Occasional (29-5%)
14 secretory adrenocortical adenoma54 Occasional (29-5%)
15 preeclampsia54 Occasional (29-5%)
16 abnormality of the urinary system64 HP:0000079
17 adrenogenital syndrome64 HP:0000840
18 hyperaldosteronism64 HP:0000859
19 decreased circulating renin level64 HP:0003351

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00363-A8.1AGT, CYP11B1, CYP11B2, NR3C1, NR3C2, POMC

MGI Mouse Phenotypes related to Aldosteronism, Glucocorticoid-Remediable according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.3AGT, CYP11B2, NR3C1, POMC
2MP:00036318.3AGT, CYP11B2, NR3C1, NR3C2, POMC, REN
3MP:00053698.1AGT, CYP11B1, HSD11B2, NR3C1, NR3C2, REN
4MP:00053788.1AGT, CYP11B1, CYP11B2, NR3C1, NR3C2, POMC
5MP:00053867.6AGT, CYP11B1, HSD11B2, NR3C1, NR3C2, POMC
6MP:00107687.6AGT, CYP11B1, HSD11B2, NR3C1, NR3C2, POMC
7MP:00053857.3AGT, CYP11B1, CYP11B2, HSD11B2, NR3C1, NR3C2
8MP:00053767.2AGT, CYP11B1, CYP11B2, HSD11B2, NR3C1, NR3C2
9MP:00053676.4AGT, CYP11B1, CYP11B2, HSD11B2, NR3C1, NR3C2

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 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinapprovedPhase 351079902-63-954454
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
2Pharmaceutical SolutionsPhase 37793
3Rosuvastatin CalciumPhase 3459147098-20-2
4AntibodiesPhase 36045
5ImmunoglobulinsPhase 36045
6Antibodies, MonoclonalPhase 33795
7Atorvastatin CalciumPhase 3743134523-03-8
8Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 31956
9glucocorticoids4920

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


Cochrane evidence based reviews: glucocorticoid-remediable aldosteronism

Genetic Tests for Aldosteronism, Glucocorticoid-Remediable

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Genetic tests related to Aldosteronism, Glucocorticoid-Remediable:

id Genetic test Affiliating Genes
1 Hyperaldosteronism, Familial, Type I27
2 Glucocorticoid-Remediable Aldosteronism24 CYP11B2

Anatomical Context for Aldosteronism, Glucocorticoid-Remediable

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

36
Adrenal gland

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 variantPathogenicChr na, -1: -1

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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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 15)
idNameGO IDScoreTop Affiliating Genes
1aldosterone biosynthetic processGO:003234210.4CYP11B1, CYP11B2
2C21-steroid hormone biosynthetic processGO:000670010.4CYP11B1, CYP11B2
3cellular response to hormone stimulusGO:003287010.4CYP11B1, CYP11B2
4cellular response to peptide hormone stimulusGO:007137510.3CYP11B1, CYP11B2
5cellular response to potassium ionGO:003586510.3CYP11B1, CYP11B2
6cholesterol metabolic processGO:000820310.3CYP11B1, CYP11B2
7cortisol biosynthetic processGO:003465110.3CYP11B1, CYP11B2
8angiotensin maturationGO:000200310.2AGT, REN
9secondary metabolite biosynthetic processGO:004455010.1CYP11B1, CYP11B2
10regulation of blood volume by renin-angiotensinGO:00020169.9AGT, REN
11renin-angiotensin regulation of aldosterone productionGO:00020189.9AGT, REN
12glucocorticoid biosynthetic processGO:00067049.8CYP11B1, HSD11B2
13sterol metabolic processGO:00161259.8CYP11B1, CYP11B2
14regulation of blood volume by renal aldosteroneGO:00020179.7CYP11B2, HSD11B2
15regulation of blood pressureGO:00082179.1AGT, CYP11B1, POMC, REN

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

idNameGO IDScoreTop Affiliating Genes
1corticosterone 18-monooxygenase activityGO:004778310.2CYP11B1, CYP11B2
2oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygenGO:001670910.1CYP11B1, CYP11B2
3steroid 11-beta-monooxygenase activityGO:000450710.1CYP11B1, CYP11B2
4steroid bindingGO:00054968.6HSD11B2, NR3C1, NR3C2

Sources for Aldosteronism, Glucocorticoid-Remediable

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet