MCID: ALD010
MIFTS: 38

Aldosteronism, Glucocorticoid-Remediable malady

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

Summaries for Aldosteronism, Glucocorticoid-Remediable

About this section


OMIM:45 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 18-oxocortisol and 19-Oxo-deoxycorticosterone have been mentioned in the context of this disorder.

Aliases & Classifications for Aldosteronism, Glucocorticoid-Remediable

About this section
Sources:
45OMIM, 10diseasecard, 9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 27ICD9CM, 26ICD10 via Orphanet
See all sources

Aldosteronism, Glucocorticoid-Remediable, Aliases & Descriptions:

Name: Aldosteronism, Glucocorticoid-Remediable 45 10
Glucocorticoid-Remediable Aldosteronism 45 9 41 20 43 47 22 60
Glucocorticoid Sensitive Hypertension 41 47
Dexamethasone Sensitive Hypertension 41 47
Familial Hyperaldosteronism Type I 41 47
Fh-I 41 47
 
Gra 41 47
Fh1 41 47
Hyperaldosteronism, Familial Type 1 41
Familial Hyperaldosteronism Type 1 41
Familial Aldosteronism Type I 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
glucocorticoid-remediable aldosteronism:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 103900
Disease Ontology9 DOID:14080
ICD9CM27 255.11
Orphanet47 403
ICD10 via Orphanet26 E26.0

Related Diseases for Aldosteronism, Glucocorticoid-Remediable

About this section

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



Diseases related to aldosteronism, glucocorticoid-remediable

Symptoms for Aldosteronism, Glucocorticoid-Remediable

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Aldosteronism, Glucocorticoid-Remediable

Search NIH Clinical Center for Aldosteronism, Glucocorticoid-Remediable

Genetic Tests for Aldosteronism, Glucocorticoid-Remediable

About this section

Genetic tests related to Aldosteronism, Glucocorticoid-Remediable:

id Genetic test Affiliating Genes
1 Glucocorticoid-Remediable Aldosteronism20 22 CYP11B2

Anatomical Context for Aldosteronism, Glucocorticoid-Remediable

About this section

Animal Models for Aldosteronism, Glucocorticoid-Remediable or affiliated genes

About this section

Publications for Aldosteronism, Glucocorticoid-Remediable

About this section

Variations for Aldosteronism, Glucocorticoid-Remediable

About this section

Clinvar genetic disease variations for Aldosteronism, Glucocorticoid-Remediable:

6
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

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

Pathways for genes affiliated with Aldosteronism, Glucocorticoid-Remediable

About this section

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

About this section

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

(show all 50)
idCompoundScoreTop Affiliating Genes
118-oxocortisol439.6CYP11B1, CYP11B2
219-Oxo-deoxycorticosterone249.6CYP11B2, CYP11B1
319-oic-deoxycorticosterone249.6CYP11B2, CYP11B1
419-Hydroxydeoxycorticosterone249.6CYP11B2, CYP11B1
518-hydroxydeoxycorticosterone439.6CYP11B2, CYP11B1
618-hydroxycortisol439.6CYP11B2, CYP11B1
711beta-Hydroxyprogesterone249.6CYP11B2, CYP11B1
811b-Hydroxyprogesterone249.6CYP11B2, CYP11B1
911b-Hydroxyandrost-4-ene-3,17-dione249.6CYP11B2, CYP11B1
1011b,17a,21-Trihydroxypreg-nenolone249.6CYP11B2, CYP11B1
1117a,21-Dihydroxypreg-nenolone249.6CYP11B2, CYP11B1
1221-deoxycortisol43 2410.6CYP11B2, CYP11B1
1318-hydroxycorticosterone43 2410.6CYP11B2, CYP11B1
14deoxycorticosterone28 2410.5CYP11B1, CYP11B2
15Cortexolone249.5CYP11B1, CYP11B2
16pcb 126439.5CYP11B2, CYP11B1
17etomidate43 1210.5CYP11B1, CYP11B2
18cortisol28 2410.5CYP11B1, CYP11B2
19doca439.5CYP11B2, CYP11B1
2011 deoxycortisol439.5CYP11B2, CYP11B1
21pcbs439.5CYP11B1, CYP11B2
22aldosterone28 24 1211.5CYP11B1, CYP11B2
23metyrapone43 59 1211.5CYP11B2, CYP11B1
24cortisone43 2410.5CYP11B2, CYP11B1
25metoclopramide43 49 1211.5CYP11B1, CYP11B2
26mibefradil43 28 1211.5CYP11B2, CYP11B1
2717-hydroxyprogesterone43 2410.5CYP11B1, CYP11B2
28spironolactone43 59 28 49 1213.5CYP11B1, CYP11B2
2911beta-hydroxysteroid439.5CYP11B2, CYP11B1
303beta-hydroxysteroid439.5CYP11B1, CYP11B2
31androstenedione43 2410.5CYP11B1, CYP11B2
32corticosterone43 59 2411.5CYP11B2, CYP11B1
33hydrocortisone43 2 59 1212.5CYP11B1, CYP11B2
34heme28 24 1211.4CYP11B1, CYP11B2
35acth439.4CYP11B2, CYP11B1
36ribonucleic acid439.4CYP11B1, CYP11B2
37potassium43 24 1211.4CYP11B1, CYP11B2
38forskolin43 49 1211.4CYP11B2, CYP11B1
39sodium43 2410.4CYP11B1, CYP11B2
40cyclic amp43 2410.4CYP11B1, CYP11B2
41progesterone43 28 59 24 1213.4CYP11B2, CYP11B1
42testosterone43 59 24 1212.3CYP11B1, CYP11B2
43cholesterol43 28 24 1212.3CYP11B1, CYP11B2
44steroid439.3CYP11B2, CYP11B1
45oligonucleotide439.2CYP11B1, CYP11B2
46dexamethasone43 49 28 1212.2CYP11B1, CYP11B2
47Water249.1CYP11B2, CYP11B1
48oxygen43 2410.1CYP11B1, CYP11B2
49arginine439.0CYP11B1, CYP11B2
50alanine438.8CYP11B1, CYP11B2

GO Terms for genes affiliated with Aldosteronism, Glucocorticoid-Remediable

About this section

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

Products for genes affiliated with Aldosteronism, Glucocorticoid-Remediable

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Aldosteronism, Glucocorticoid-Remediable

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet