HPRT1 and Movement Disease: Association Evidence

Gene-Disorder Association · Article

Gene

HPRT1

Hypoxanthine Phosphoribosyltransferase 1

Disorder

First reported 1998

Manually curated

Association Review

In brief

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

Sources 1

Clinical variants 0

Symptoms 28

Compounds 0

Trials 0

Publications 0

At a glance

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

Provenance

1 source

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

HPRT1

1 source summary

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

Movement Disease

6 database identifiers

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

Provenance

3 references

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