MCID: 11B002
MIFTS: 18

11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia malady

Endocrine category

Summaries for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

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MalaCards: 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia, also known as congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, is related to congenital adrenal hyperplasia and 11-beta-hydroxylase deficiency. An important gene associated with 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia is CYP11B1 (cytochrome P450, family 11, subfamily B, polypeptide 1), and among its related pathways are Cytochrome P450 - arranged by substrate type and Glucuronidation. The compounds 18-hydroxycortisol and 18-oxocortisol have been mentioned in the context of this disorder.

Aliases & Classifications for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

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61UMLS, 20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine


Aliases & Descriptions:

11-beta-hydroxylase-deficient congenital adrenal hyperplasia 20
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 61


Related Diseases for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

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17GeneCards, 18GeneDecks
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Diseases related to 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital adrenal hyperplasia31.3CYP11B2, CYP11B1
211-beta-hydroxylase deficiency10.7
3glucocorticoid-remediable aldosteronism10.0CYP11B1, CYP11B2
4conn's syndrome10.0CYP11B1, CYP11B2
5hyperaldosteronism10.0CYP11B2, CYP11B1
6adrenal adenoma10.0CYP11B1, CYP11B2
7cushing's syndrome10.0CYP11B1, CYP11B2
8adrenocortical carcinoma10.0CYP11B1, CYP11B2

Graphical network of diseases related to 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia:



Diseases related to 11-beta-hydroxylase-deficient congenital adrenal hyperplasia

Clinical Features for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Drugs & Therapeutics for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Drug clinical trials:

Search ClinicalTrials for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Search NIH Clinical Center for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Search CenterWatch for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Genetic Tests for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

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20GeneTests
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Genetic tests related to 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia:

id Genetic test Affiliating Genes
1 11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia20 CYP11B1

Anatomical Context for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Animal Models for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia or affiliated genes

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28inGenious Targeting Laboratory
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Publications for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Genetic Variations for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Expression for genes affiliated with 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Search GEO for disease gene expression data for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia.

Pathways for genes affiliated with 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore
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Compounds for genes affiliated with 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 2BitterDB
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Compounds related to 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
118-hydroxycortisol459.7CYP11B2, CYP11B1
218-oxocortisol459.7CYP11B2, CYP11B1
318-hydroxydeoxycorticosterone459.7CYP11B2, CYP11B1
421-deoxycortisol45 2410.7CYP11B1, CYP11B2
518-hydroxycorticosterone45 2410.7CYP11B1, CYP11B2
6deoxycorticosterone29 2410.7CYP11B2, CYP11B1
7pcb 126459.7CYP11B2, CYP11B1
8etomidate45 1110.7CYP11B1, CYP11B2
9cortisol29 2410.7CYP11B2, CYP11B1
1011 deoxycortisol459.7CYP11B2, CYP11B1
11doca459.7CYP11B2, CYP11B1
12pcbs459.7CYP11B1, CYP11B2
13aldosterone29 11 2411.7CYP11B2, CYP11B1
14metoclopramide45 1110.6CYP11B2, CYP11B1
15cortisone45 2410.6CYP11B1, CYP11B2
16metyrapone60 45 1111.6CYP11B1, CYP11B2
17mibefradil45 29 1111.6CYP11B2, CYP11B1
1817-hydroxyprogesterone45 2410.6CYP11B2, CYP11B1
19spironolactone50 45 60 29 1113.6CYP11B2, CYP11B1
2011beta-hydroxysteroid459.6CYP11B1, CYP11B2
213beta-hydroxysteroid459.6CYP11B2, CYP11B1
22androstenedione45 2410.5CYP11B1, CYP11B2
23corticosterone45 60 2411.5CYP11B2, CYP11B1
24hydrocortisone45 2 60 1112.4CYP11B2, CYP11B1
25heme29 11 2411.4CYP11B2, CYP11B1
26acth459.3CYP11B1, CYP11B2
27forskolin45 50 1111.3CYP11B2, CYP11B1
28ribonucleic acid459.2CYP11B2, CYP11B1
29potassium45 11 2411.0CYP11B2, CYP11B1
30arginine458.7CPN1, CYP11B2, CYP11B1

GO Terms for genes affiliated with 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

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16Gene Ontology
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Cellular components related to 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.3CYP11B2, CYP11B1

Biological processes related to 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1aldosterone biosynthetic processGO:0323429.5CYP11B2, CYP11B1
2cortisol biosynthetic processGO:0346519.5CYP11B2, CYP11B1
3mineralocorticoid biosynthetic processGO:0067059.5CYP11B2, CYP11B1
4cellular response to potassium ionGO:0358659.4CYP11B2, CYP11B1
5C21-steroid hormone biosynthetic processGO:0067009.4CYP11B1, CYP11B2
6sterol metabolic processGO:0161259.3CYP11B2, CYP11B1
7xenobiotic metabolic processGO:0068059.3CYP11B2, CYP11B1
8cellular response to hormone stimulusGO:0328709.2CYP11B2, CYP11B1
9steroid metabolic processGO:0082029.0CYP11B2, CYP11B1

Molecular functions related to 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1steroid 11-beta-monooxygenase activityGO:0045079.3CYP11B2, CYP11B1
2electron carrier activityGO:0090559.3CYP11B2, CYP11B1
3heme bindingGO:0200379.2CYP11B2, CYP11B1
4iron ion bindingGO:0055069.0CYP11B2, CYP11B1

Products for genes affiliated with 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

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Sources for 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet