Genopathy
Gene-Disorder Association · Article
Gene
SPR
Sepiapterin Reductase
Disorder
Dystonia
First reported 2001
Supporting publications 14
Key publication · gene–disorder Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.American journal of human genetics · 2001
Key publication · disorder Dystonia musculorum deformans, with report of a case in a child.The Medical journal of Australia · 1950
Manually curated
Association Review

In brief

The association between SPR (Sepiapterin Reductase) and Dystonia is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 203
Symptoms 19
Compounds 0
Trials 0
Publications 14
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

2 sources

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

Request access
03
SPR

The gene

1 source summary

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

Request access
04
Dystonia

The disorder

12 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

203 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
06
Literature

Reading

14 publications

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

Request access
07
Provenance

References & sources

12 references

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

Request access