Genopathy
Gene-Disorder Association · Article
Gene
CYP3A4
Cytochrome P450 Family 3 Subfamily A Member 4
Disorder
Vitamin D-Dependent Rickets, Type 3
First reported 2018
Supporting publications 1
Key publication · gene–disorder CYP3A4 mutation causes vitamin D-dependent rickets type 3.The Journal of clinical investigation · 2018
Key publication · disorder Impaired stimulation of 25-hydroxyvitamin D-24-hydroxylase in fibroblasts from a patient with vitamin D-dependent rickets, type II. A form of receptor-positive resistance to 1,25-dihydroxyvitamin D3.The Journal of clinical investigation · 1983
Manually curated
Association Review

In brief

The association between CYP3A4 (Cytochrome P450 Family 3 Subfamily A Member 4) and Vitamin D-Dependent Rickets, Type 3 is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 5
Symptoms 23
Compounds 0
Trials 0
Publications 1
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

3 sources

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

Request access
03
CYP3A4

The gene

2 source summaries

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

Request access
04
Vitamin D-Dependent Rickets, Type 3

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

13 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

5 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

1 publication

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

Request access
09
Provenance

References & sources

7 references

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

Request access