MCID: ALD010
MIFTS: 38

Aldosteronism, Glucocorticoid-Remediable malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases categories

Aliases & Classifications for Aldosteronism, Glucocorticoid-Remediable

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Sources:
46OMIM, 9diseasecard, 8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 27ICD9CM, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Aldosteronism, Glucocorticoid-Remediable:

Name: Aldosteronism, Glucocorticoid-Remediable 46 9
Glucocorticoid-Remediable Aldosteronism 46 8 42 20 44 48 22 61
Glucocorticoid Sensitive Hypertension 42 48
Dexamethasone Sensitive Hypertension 42 48
Familial Hyperaldosteronism Type I 42 48
Fh-I 42 48
 
Gra 42 48
Fh1 42 48
Hyperaldosteronism, Familial Type 1 42
Familial Hyperaldosteronism Type 1 42
Familial Aldosteronism Type I 61


Classifications:



Characteristics (Orphanet epidemiological data):

48
glucocorticoid-remediable aldosteronism:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy


External Ids:

OMIM46 103900
Disease Ontology8 DOID:14080
ICD9CM27 255.11
Orphanet48 403
ICD10 via Orphanet26 E26.0

Summaries for Aldosteronism, Glucocorticoid-Remediable

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OMIM:46 Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable... (103900) more...

MalaCards based summary: Aldosteronism, Glucocorticoid-Remediable, also known as glucocorticoid-remediable aldosteronism, is related to hyperaldosteronism and adenoma, and has symptoms including autosomal dominant inheritance, abnormality of the urinary system and hypertension. An important gene associated with Aldosteronism, Glucocorticoid-Remediable is CYP11B1 (cytochrome P450, family 11, subfamily B, polypeptide 1), and among its related pathways are Biological oxidations and Cytochrome P450 - arranged by substrate type. The compounds 19-Hydroxydeoxycorticosterone and 18-hydroxydeoxycorticosterone have been mentioned in the context of this disorder.

Related Diseases for Aldosteronism, Glucocorticoid-Remediable

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Graphical network of 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 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 Aldosteronism, Glucocorticoid-Remediable

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Drug clinical trials:

Search ClinicalTrials for Aldosteronism, Glucocorticoid-Remediable

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 Aldosteronism20 22 CYP11B2

Anatomical Context for Aldosteronism, Glucocorticoid-Remediable

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Animal Models for Aldosteronism, Glucocorticoid-Remediable or affiliated genes

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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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1CYP11B1, CYP11B2
2
Show member pathways
9.1CYP11B1, CYP11B2
3
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism36
9.1CYP11B2, CYP11B1
4
Show member pathways
9.1CYP11B1, CYP11B2
5
Show member pathways
estradiol biosynthesis II36
androgen biosynthesis36
estradiol biosynthesis I36
progesterone biosynthesis36
9.1CYP11B1, CYP11B2

Compounds for genes affiliated with Aldosteronism, Glucocorticoid-Remediable

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

(show all 50)
idCompoundScoreTop Affiliating Genes
119-Hydroxydeoxycorticosterone249.6CYP11B2, CYP11B1
218-hydroxydeoxycorticosterone449.6CYP11B2, CYP11B1
318-hydroxycortisol449.6CYP11B2, CYP11B1
418-oxocortisol449.6CYP11B2, CYP11B1
519-oic-deoxycorticosterone249.6CYP11B1, CYP11B2
619-Oxo-deoxycorticosterone249.6CYP11B1, CYP11B2
711b,17a,21-Trihydroxypreg-nenolone249.6CYP11B1, CYP11B2
811b-Hydroxyandrost-4-ene-3,17-dione249.6CYP11B1, CYP11B2
911beta-Hydroxyprogesterone249.6CYP11B2, CYP11B1
1011b-Hydroxyprogesterone249.6CYP11B2, CYP11B1
1118-hydroxycorticosterone44 2410.6CYP11B1, CYP11B2
1217a,21-Dihydroxypreg-nenolone249.6CYP11B1, CYP11B2
1321-deoxycortisol44 2410.6CYP11B1, CYP11B2
14deoxycorticosterone28 2410.5CYP11B2, CYP11B1
15Cortexolone249.5CYP11B1, CYP11B2
16pcb 126449.5CYP11B2, CYP11B1
17etomidate44 1110.5CYP11B2, CYP11B1
18cortisol28 2410.5CYP11B1, CYP11B2
19doca449.5CYP11B2, CYP11B1
2011 deoxycortisol449.5CYP11B2, CYP11B1
21pcbs449.5CYP11B1, CYP11B2
22aldosterone28 24 1111.5CYP11B1, CYP11B2
23cortisone44 2410.5CYP11B2, CYP11B1
24metyrapone44 60 1111.5CYP11B1, CYP11B2
25metoclopramide44 50 1111.5CYP11B2, CYP11B1
26mibefradil44 28 1111.5CYP11B1, CYP11B2
2717-hydroxyprogesterone44 2410.5CYP11B2, CYP11B1
28spironolactone44 60 28 50 1113.5CYP11B1, CYP11B2
2911beta-hydroxysteroid449.5CYP11B2, CYP11B1
303beta-hydroxysteroid449.5CYP11B1, CYP11B2
31androstenedione44 2410.5CYP11B2, CYP11B1
32corticosterone44 60 2411.5CYP11B2, CYP11B1
33hydrocortisone44 1 60 1112.5CYP11B2, CYP11B1
34heme28 24 1111.4CYP11B2, CYP11B1
35acth449.4CYP11B2, CYP11B1
36ribonucleic acid449.4CYP11B2, CYP11B1
37potassium44 24 1111.4CYP11B1, CYP11B2
38forskolin44 50 1111.4CYP11B2, CYP11B1
39sodium44 2410.4CYP11B2, CYP11B1
40cyclic amp44 2410.4CYP11B1, CYP11B2
41progesterone44 28 60 24 1113.4CYP11B2, CYP11B1
42testosterone44 60 24 1112.3CYP11B2, CYP11B1
43cholesterol44 28 24 1112.3CYP11B1, CYP11B2
44steroid449.3CYP11B2, CYP11B1
45oligonucleotide449.2CYP11B2, CYP11B1
46dexamethasone44 50 28 1112.2CYP11B2, CYP11B1
47Water249.1CYP11B1, CYP11B2
48oxygen44 2410.1CYP11B1, CYP11B2
49arginine449.0CYP11B2, CYP11B1
50alanine448.8CYP11B2, CYP11B1

GO Terms for genes affiliated with Aldosteronism, Glucocorticoid-Remediable

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057439.1CYP11B1, CYP11B2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1aldosterone biosynthetic processGO:00323429.3CYP11B1, CYP11B2
2cortisol biosynthetic processGO:00346519.3CYP11B1, CYP11B2
3mineralocorticoid biosynthetic processGO:00067059.3CYP11B1, CYP11B2
4cellular response to potassium ionGO:00358659.2CYP11B1, CYP11B2
5C21-steroid hormone biosynthetic processGO:00067009.2CYP11B2, CYP11B1
6sterol metabolic processGO:00161259.1CYP11B1, CYP11B2
7xenobiotic metabolic processGO:00068059.1CYP11B1, CYP11B2
8cellular response to hormone stimulusGO:00328709.0CYP11B1, CYP11B2
9steroid metabolic processGO:00082028.8CYP11B1, CYP11B2

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

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:00055069.1CYP11B1, CYP11B2
2steroid 11-beta-monooxygenase activityGO:00045079.0CYP11B1, CYP11B2
3heme bindingGO:00200378.8CYP11B1, CYP11B2

Sources for Aldosteronism, Glucocorticoid-Remediable

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet