MCID: 11B002
MIFTS: 21

11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia malady

Endocrine diseases 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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Classifications:

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Anatomical: Endocrine diseases


Aliases & Descriptions:

11-beta-hydroxylase-deficient congenital adrenal hyperplasia 20
congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 60


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

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17GeneCards, 18GeneDecks
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Diseases in the 17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia family:

11-beta-hydroxylase-deficient congenital adrenal hyperplasia

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 deficiency10.6
3glucocorticoid-remediable aldosteronism10.0CYP11B2, CYP11B1
4conn's syndrome10.0CYP11B2, CYP11B1
5hyperaldosteronism10.0CYP11B1, CYP11B2
6adrenal adenoma10.0CYP11B2, CYP11B1
7cushing's syndrome10.0CYP11B2, CYP11B1
8adrenocortical carcinoma10.0CYP11B2, CYP11B1

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

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

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5CenterWatch, 41NIH 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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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

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

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

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

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

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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

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 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-hydroxycortisol449.7CYP11B2, CYP11B1
218-oxocortisol449.7CYP11B2, CYP11B1
318-hydroxydeoxycorticosterone449.7CYP11B2, CYP11B1
421-deoxycortisol44 2410.7CYP11B1, CYP11B2
518-hydroxycorticosterone44 2410.7CYP11B1, CYP11B2
6deoxycorticosterone28 2410.7CYP11B2, CYP11B1
7pcb 126449.7CYP11B2, CYP11B1
8etomidate44 1110.7CYP11B1, CYP11B2
9cortisol28 2410.7CYP11B2, CYP11B1
1011 deoxycortisol449.7CYP11B2, CYP11B1
11doca449.7CYP11B2, CYP11B1
12pcbs449.7CYP11B1, CYP11B2
13aldosterone28 11 2411.7CYP11B2, CYP11B1
14metoclopramide44 1110.6CYP11B2, CYP11B1
15cortisone44 2410.6CYP11B1, CYP11B2
16metyrapone59 44 1111.6CYP11B1, CYP11B2
17mibefradil44 28 1111.6CYP11B2, CYP11B1
1817-hydroxyprogesterone44 2410.6CYP11B2, CYP11B1
19spironolactone49 44 59 28 1113.6CYP11B2, CYP11B1
2011beta-hydroxysteroid449.6CYP11B1, CYP11B2
213beta-hydroxysteroid449.6CYP11B2, CYP11B1
22androstenedione44 2410.5CYP11B1, CYP11B2
23corticosterone44 59 2411.5CYP11B2, CYP11B1
24hydrocortisone44 2 59 1112.4CYP11B2, CYP11B1
25heme28 11 2411.4CYP11B2, CYP11B1
26acth449.3CYP11B1, CYP11B2
27forskolin44 49 1111.3CYP11B2, CYP11B1
28ribonucleic acid449.2CYP11B2, CYP11B1
29potassium44 11 2411.0CYP11B2, CYP11B1
30arginine448.7CPN1, 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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet