Genopathy
Gene-Disorder Association · Article
Gene
CYP2R1
Cytochrome P450 Family 2 Subfamily R Member 1
Disorder
Hypophosphatasia
First reported 1953
Key publication · disorder Rickets, deficiency of alkaline phosphatase activity and premature loss of teeth in childhood.Pediatrics · 1953
Manually curated
Association Review

In brief

The association between CYP2R1 (Cytochrome P450 Family 2 Subfamily R Member 1) and Hypophosphatasia is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 26
Compounds 0
Trials 0
Publications 0
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

1 source

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

Request access
03
CYP2R1

The gene

1 source summary

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

Request access
04
Hypophosphatasia

The disorder

13 database identifiers

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

Request access
05
Phenotype

Clinical features

20 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

6 references

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

Request access