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 50 12
Glucocorticoid-Remediable Aldosteronism 50 11 46 23 13 52 68 48 37 66
Familial Hyperaldosteronism Type 1 46 23 52 66
Glucocorticoid-Suppressible Hyperaldosteronism 23 68
Glucocorticoid Sensitive Hypertension 46 68
Dexamethasone Sensitive Hypertension 46 68
Familial Hyperaldosteronism Type I 52 68
Familial Hyperaldosteronism 1 68 25
Gra 52 68
Fh1 52 68
Acth-Dependent Hyperaldosteronism Syndrome 68
 
Aldosteronism, Sensitive to Dexamethasone 23
Aldosteronism Sensitive to Dexamethasone 68
Glucocorticoid-Sensitive Hypertension 52
Dexamethasone-Sensitive Hypertension 52
Hyperaldosteronism, Familial Type 1 46
Familial Aldosteronism Type I 66
Fh Type 1 68
Fh I 68
Fh-I 52
Gsh 68

Characteristics:

Orphanet epidemiological data:

52
glucocorticoid-remediable aldosteronism:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy

HPO:

62
aldosteronism, glucocorticoid-remediable:
Inheritance: autosomal dominant inheritance
Onset and clinical course: onset


Classifications:



External Ids:

OMIM50 103900
Disease Ontology11 DOID:14080
ICD1028 E26.02
ICD9CM30 255.11
SNOMED-CT60 237743003
NCIt43 C123248
Orphanet52 ORPHA403
ICD10 via Orphanet29 E26.0
MedGen35 C1260386

Summaries for Aldosteronism, Glucocorticoid-Remediable

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NIH Rare Diseases:46 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 fragile x-associated primary ovarian insufficiency and hyperaldosteronism, familial, type iii, 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 cytochrome P450. Affiliated tissues include adrenal gland, and related mouse phenotypes are adipose tissue and nervous system.

OMIM:50 Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable... (103900) more...

UniProtKB/Swiss-Prot:68 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.

Wikipedia:69 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
1fragile x-associated primary ovarian insufficiency10.5CYP11B1, CYP11B2
2hyperaldosteronism, familial, type iii10.5
3hypodermyasis10.5CYP11B2, REN
4dystonia 2510.4NR3C2, REN
5carotid artery disease10.3POMC, REN
6ovarian cancer10.3AGT, REN
7gallbladder adenoma10.3POMC, REN
8aortic valves stenosis of the child10.3AGT, CYP11B2
9vasculogenic impotence10.3POMC, REN
10dressler's syndrome10.3POMC, REN
11chylocele of tunica vaginalis10.3AGT, REN
12actinic lichen planus10.2POMC, REN
13plica syndrome10.2AGT, REN
14renal tubular dysgenesis10.2AGT, REN
15craniopharyngioma10.2POMC, REN
16astrakhan spotted fever10.2POMC, REN
17cystinosis10.2AGT, REN
18spinal canal and spinal cord meningioma10.2CYP11B2, REN
19endotheliitis10.2
20chancroid10.1POMC, REN
21retinal vein occlusion10.1NR3C2, REN
22paget disease of bone 410.1NR3C1, NR3C2
23hyperaldosteronism10.1
24familial hyperaldosteronism10.1
25prosopagnosia10.1NR3C1, POMC
26episodic kinesigenic dyskinesia 210.1AGT, REN
27spondylosis10.1
28cervicitis10.1
29cold-induced sweating syndrome 210.0NR3C1, POMC
30peritoneal mesothelioma10.0CYP11B1, CYP11B2, POMC
31apparent mineralocorticoid excess10.0
32intracranial aneurysm10.0
33adenoma10.0
34transposition of the great arteries10.0
35aneurysm10.0
36adrenal cortex disease10.0CYP11B1, POMC, REN
37perrault syndrome10.0NR3C2, REN
38blepharitis10.0POMC, REN
39hypoglycemic coma10.0NR3C1, POMC
40male reproductive organ benign neoplasm10.0CYP11B2, POMC, REN
41neuroblastoma9.9
42lung cancer9.9
43breast cancer9.9
44cystic fibrosis9.9
45neuronitis9.9
46survival motor neuron spinal muscular atrophy9.9POMC, REN
47benign hypertensive renal disease9.9AGT, CYP11B2, NR3C2
48persistent hyperplastic primary vitreous9.9NR3C1, POMC
49hiv-19.9
50glioma9.9

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

Symptoms:

 52 (show all 15)
  • hypertension
  • dexamethasone-suppresible primary hyperaldosteronism
  • adrenal hyperplasia
  • abnormal circulating renin
  • tinnitus
  • epistaxis
  • muscle weakness
  • polydipsia
  • nausea
  • intracranial hemorrhage
  • headache
  • hypokalemia
  • caesarian section
  • secretory adrenocortical adenoma
  • preeclampsia

HPO human phenotypes related to Aldosteronism, Glucocorticoid-Remediable:

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

Drugs & Therapeutics for Aldosteronism, Glucocorticoid-Remediable

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinPhase 350379902-63-954454
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 3440147098-20-2
3Atorvastatin CalciumPhase 3727134523-03-8
4glucocorticoids4756

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 I25
2 Glucocorticoid-Remediable Aldosteronism23 CYP11B2

Anatomical Context for Aldosteronism, Glucocorticoid-Remediable

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

34
Adrenal gland

Animal Models for Aldosteronism, Glucocorticoid-Remediable or affiliated genes

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MGI Mouse Phenotypes related to Aldosteronism, Glucocorticoid-Remediable:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.7AGT, CYP11B2, NR3C1, POMC
2MP:00036317.7AGT, CYP11B2, NR3C1, NR3C2, POMC, REN
3MP:00053697.7AGT, CYP11B1, HSD11B2, NR3C1, NR3C2, REN
4MP:00053787.2AGT, CYP11B1, CYP11B2, NR3C1, NR3C2, POMC
5MP:00107687.0AGT, CYP11B1, HSD11B2, NR3C1, NR3C2, POMC
6MP:00053866.7AGT, CYP11B1, HSD11B2, NR3C1, NR3C2, POMC
7MP:00053856.6AGT, CYP11B1, CYP11B2, HSD11B2, NR3C1, NR3C2
8MP:00053676.5AGT, CYP11B1, CYP11B2, HSD11B2, NR3C1, NR3C2
9MP:00053766.1AGT, 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
2
Show member pathways
9.2CYP11B1, CYP11B2, POMC
39.2HSD11B2, NR3C2
4
Show member pathways
9.0AGT, POMC, REN
5
Show member pathways
8.9CYP11B1, CYP11B2, HSD11B2
6
Show member pathways
8.7AGT, CYP11B2, NR3C2, REN
7
Show member pathways
8.4CYP11B1, 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 15)
idNameGO IDScoreTop Affiliating Genes
1cortisol biosynthetic processGO:003465110.1CYP11B1, CYP11B2
2cellular response to potassium ionGO:003586510.1CYP11B1, CYP11B2
3secondary metabolite biosynthetic processGO:004455010.1CYP11B1, CYP11B2
4renin-angiotensin regulation of aldosterone productionGO:000201810.1AGT, REN
5aldosterone biosynthetic processGO:003234210.1CYP11B1, CYP11B2
6C21-steroid hormone biosynthetic processGO:000670010.0CYP11B1, CYP11B2
7cellular response to hormone stimulusGO:003287010.0CYP11B1, CYP11B2
8cellular response to peptide hormone stimulusGO:007137510.0CYP11B1, CYP11B2
9angiotensin maturationGO:000200310.0AGT, REN
10cholesterol metabolic processGO:00082039.9CYP11B1, CYP11B2
11sterol metabolic processGO:00161259.7CYP11B1, CYP11B2
12regulation of blood volume by renal aldosteroneGO:00020179.6CYP11B2, HSD11B2
13regulation of blood volume by renin-angiotensinGO:00020169.5AGT, REN
14glucocorticoid biosynthetic processGO:00067049.4CYP11B1, HSD11B2
15regulation of blood pressureGO:00082178.4AGT, CYP11B1, POMC, REN

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

idNameGO IDScoreTop Affiliating Genes
1steroid 11-beta-monooxygenase activityGO:00045079.9CYP11B1, CYP11B2
2corticosterone 18-monooxygenase activityGO:00477839.8CYP11B1, CYP11B2
3oxidoreductase 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:00167099.8CYP11B1, CYP11B2
4steroid bindingGO:00054968.5HSD11B2, NR3C1, NR3C2

Sources for Aldosteronism, Glucocorticoid-Remediable

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet