MCID: ALD010
MIFTS: 42

Aldosteronism, Glucocorticoid-Remediable malady

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

Summaries for Aldosteronism, Glucocorticoid-Remediable

About this section


OMIM:47 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:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 45Novoseek, 49Orphanet, 24GTR, 29ICD9CM, 62UMLS, 28ICD10 via Orphanet
See all sources

Aldosteronism, Glucocorticoid-Remediable, Aliases & Descriptions:

Name: Aldosteronism, Glucocorticoid-Remediable 47 11
Glucocorticoid-Remediable Aldosteronism 47 10 43 22 45 49 24
Glucocorticoid Sensitive Hypertension 43 49
Dexamethasone Sensitive Hypertension 43 49
Familial Hyperaldosteronism Type I 43 49
 
Fh-I 43 49
Fh1 43 49
Gra 43 49
Hyperaldosteronism, Familial Type 1 43
Familial Hyperaldosteronism Type 1 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
glucocorticoid-remediable aldosteronism:
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy


External Ids:

OMIM47 103900
Disease Ontology10 DOID:14080
ICD9CM29 255.11
Orphanet49 403
ICD10 via Orphanet28 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 Aldosteronism22 24 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:

7
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/GeneDecks:

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 Metabolism38
9.1CYP11B2, CYP11B1
4
Show member pathways
9.1CYP11B1, CYP11B2
5
Show member pathways
estradiol biosynthesis II38
androgen biosynthesis38
estradiol biosynthesis I38
progesterone biosynthesis38
9.1CYP11B1, CYP11B2

Compounds for genes affiliated with Aldosteronism, Glucocorticoid-Remediable

About this section

Compounds related to Aldosteronism, Glucocorticoid-Remediable according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
118-oxocortisol459.6CYP11B1, CYP11B2
219-Oxo-deoxycorticosterone269.6CYP11B2, CYP11B1
319-oic-deoxycorticosterone269.6CYP11B2, CYP11B1
419-Hydroxydeoxycorticosterone269.6CYP11B2, CYP11B1
518-hydroxydeoxycorticosterone459.6CYP11B2, CYP11B1
618-hydroxycortisol459.6CYP11B2, CYP11B1
711beta-Hydroxyprogesterone269.6CYP11B2, CYP11B1
811b-Hydroxyprogesterone269.6CYP11B2, CYP11B1
911b-Hydroxyandrost-4-ene-3,17-dione269.6CYP11B2, CYP11B1
1011b,17a,21-Trihydroxypreg-nenolone269.6CYP11B2, CYP11B1
1117a,21-Dihydroxypreg-nenolone269.6CYP11B2, CYP11B1
1221-deoxycortisol45 2610.6CYP11B2, CYP11B1
1318-hydroxycorticosterone45 2610.6CYP11B2, CYP11B1
14deoxycorticosterone30 2610.5CYP11B1, CYP11B2
15Cortexolone269.5CYP11B1, CYP11B2
16pcb 126459.5CYP11B2, CYP11B1
17etomidate45 1310.5CYP11B1, CYP11B2
18cortisol30 2610.5CYP11B1, CYP11B2
19doca459.5CYP11B2, CYP11B1
2011 deoxycortisol459.5CYP11B2, CYP11B1
21pcbs459.5CYP11B1, CYP11B2
22aldosterone30 26 1311.5CYP11B1, CYP11B2
23metyrapone45 61 1311.5CYP11B2, CYP11B1
24cortisone45 2610.5CYP11B2, CYP11B1
25metoclopramide45 51 1311.5CYP11B1, CYP11B2
26mibefradil45 30 1311.5CYP11B2, CYP11B1
2717-hydroxyprogesterone45 2610.5CYP11B1, CYP11B2
28spironolactone45 61 30 51 1313.5CYP11B1, CYP11B2
2911beta-hydroxysteroid459.5CYP11B2, CYP11B1
303beta-hydroxysteroid459.5CYP11B1, CYP11B2
31androstenedione45 2610.5CYP11B1, CYP11B2
32corticosterone45 61 2611.5CYP11B2, CYP11B1
33hydrocortisone45 3 61 1312.5CYP11B1, CYP11B2
34heme30 26 1311.4CYP11B1, CYP11B2
35acth459.4CYP11B2, CYP11B1
36ribonucleic acid459.4CYP11B1, CYP11B2
37potassium45 26 1311.4CYP11B1, CYP11B2
38forskolin45 51 1311.4CYP11B2, CYP11B1
39sodium45 2610.4CYP11B1, CYP11B2
40cyclic amp45 2610.4CYP11B1, CYP11B2
41progesterone45 30 61 26 1313.4CYP11B2, CYP11B1
42testosterone45 61 26 1312.3CYP11B1, CYP11B2
43cholesterol45 30 26 1312.3CYP11B1, CYP11B2
44steroid459.3CYP11B2, CYP11B1
45oligonucleotide459.2CYP11B1, CYP11B2
46dexamethasone45 51 30 1312.2CYP11B1, CYP11B2
47Water269.1CYP11B2, CYP11B1
48oxygen45 2610.1CYP11B1, CYP11B2
49arginine459.0CYP11B1, CYP11B2
50alanine458.8CYP11B1, CYP11B2

GO Terms for genes affiliated with Aldosteronism, Glucocorticoid-Remediable

About this section

Cellular components related to Aldosteronism, Glucocorticoid-Remediable according to GeneCards/GeneDecks:

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

Biological processes related to Aldosteronism, Glucocorticoid-Remediable according to GeneCards/GeneDecks:

(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/GeneDecks:

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
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet