Genopathy
Gene-Disorder Association · Article
Gene
POR
Cytochrome P450 Oxidoreductase
Disorder
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
First reported 2005
Supporting publications 11
Key publication · gene–disorder Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.The Journal of clinical endocrinology and metabolism · 2005
Key publication · disorder Antley-Bixler syndrome in sisters: a term newborn and a prenatally diagnosed fetus.American journal of medical genetics · 1983
Manually curated
Association Review

In brief

The association between POR (Cytochrome P450 Oxidoreductase) and Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 66
Symptoms 96
Compounds 0
Trials 0
Publications 11
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

5 sources

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

Request access
03
POR

The gene

1 source summary

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

Request access
04
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

71 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

66 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

11 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access