Genopathy
Gene-Disorder Association · Article
Gene
CYP11B1
Cytochrome P450 Family 11 Subfamily B Member 1
Disorder
Deficiency Of Steroid 11-Beta-Monooxygenase
First reported 1993
Supporting publications 41
Key publication · gene–disorder A nonsense mutation (TGG [Trp116]-->TAG [Stop]) in CYP11B1 causes steroid 11 beta-hydroxylase deficiency.The Journal of clinical endocrinology and metabolism · 1993
Key publication · disorder ADRENOCORTICAL 11-BETA-HYDROXYLASE DEFICIENCY AND VIRILISM FIRST MANIFEST IN THE ADULT WOMAN.The New England journal of medicine · 1965
Manually curated
Association Review

In brief

The association between CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1) and Deficiency Of Steroid 11-Beta-Monooxygenase is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 386
Symptoms 33
Compounds 0
Trials 0
Publications 41
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
CYP11B1

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

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04
Deficiency Of Steroid 11-Beta-Monooxygenase

The disorder

6 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

32 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

386 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

41 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

15 references

Every source and publication cited across this dossier, as one numbered reference list.

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