Genopathy
Gene-Disorder Association · Article
Gene
CYP11A1
Cytochrome P450 Family 11 Subfamily A Member 1
Disorder
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
First reported 2002
Supporting publications 9
Key publication · gene–disorder Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.The Journal of clinical endocrinology and metabolism · 2002
Key publication · disorder [Female pseudohermaphroditism with congenital adrenal insufficiency; favorable effect of cortisone, desoxycorticosteronacetate and NaCl].Helvetica paediatrica acta · 1950
Manually curated
Association Review

In brief

The association between CYP11A1 (Cytochrome P450 Family 11 Subfamily A Member 1) and Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 124
Symptoms 59
Compounds 0
Trials 0
Publications 9
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

5 sources

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

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03
CYP11A1

The gene

1 source summary

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

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04
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete

The disorder

12 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

53 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

124 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

2 shared pathways

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

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08
Literature

Reading

9 publications

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

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09
Provenance

References & sources

20 references

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

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