dopa-responsive dystonia due to sepiapterin reductase deficiency
Findings
No curated finding names dopa-responsive dystonia due to sepiapterin reductase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.
Definition from the Mondo Disease Ontology (MONDO:0012994), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
36 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Reduced sepiapterin reductase activity in cultured fibroblastsHPOHP:6000563
- 9 of 9 reported patients
- SpasticityHPOHP:0001257
- 2 of 2 reported patients
- Abnormality of the noseHPOHP:0000366
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
- Frequent (30% to 79% of cases)
- BradykinesiaHPO
Show the remaining 24
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Hypomimic faceHPOHP:0000338
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Limb hypertoniaHPOHP:0002509
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SPRHGNC:11257
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: dopa-responsive dystonia due to sepiapterin reductase deficiency
- Also called
- autosomal recessive sepiapterin reductase-deficient DRDDRD due to SRDDYT-SPRSepiapterin Reductase DeficiencySPR deficiencySRD