Genopathy
Gene-Disorder Association · Article
Gene
CYP2R1
Cytochrome P450 Family 2 Subfamily R Member 1
Disorder
Vitamin D Hydroxylation-Deficient Rickets, Type 1a
First reported 2004
Supporting publications 5
Key publication · gene–disorder Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.Proceedings of the National Academy of Sciences of the United States of America · 2004
Key publication · disorder The diagnosis and management of the various types of rickets.Pediatric clinics of North America · 1958
Manually curated
Association Review

In brief

The association between CYP2R1 (Cytochrome P450 Family 2 Subfamily R Member 1) and Vitamin D Hydroxylation-Deficient Rickets, Type 1a is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 1
Symptoms 88
Compounds 0
Trials 0
Publications 5
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
CYP2R1

The gene

1 source summary

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

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04
Vitamin D Hydroxylation-Deficient Rickets, Type 1a

The disorder

9 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

65 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

1 clinical variant

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

5 publications

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

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09
Provenance

References & sources

12 references

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

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