Genopathy
Gene-Disorder Association · Article
Gene
HPRT1
Hypoxanthine Phosphoribosyltransferase 1
Disorder
Nephrolithiasis
First reported 2003
Key publication · gene–disorder Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection.Journal of chromatography. B, Analytical technologies in the biomedical and life sciences · 2003
Key publication · disorder Nephrolithiasis and nephrocalcinosis with calcium oxalate crystals in kidneys and bones.The Journal of pediatrics · 1950
Manually curated
Association Review

In brief

The association between HPRT1 (Hypoxanthine Phosphoribosyltransferase 1) and Nephrolithiasis is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 1
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
HPRT1

The gene

1 source summary

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

Request access
04
Nephrolithiasis

The disorder

7 database identifiers

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

Request access
05
Provenance

References & sources

3 references

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

Request access