sepiapterin reductase deficiency

Summary
Synonym
  • DRD due to SRD
  • SPR deficiency
  • SRD
  • dopa-responsive dystonia due to sepiapterin reductase deficiency
Definition
A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency.
Super Class
autosomal dominant disease autosomal recessive disease dystonia
External Links
Disease Ontology
DOID:0111168
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1116 CHI3L1 chitinase 3 like 1
84693 MCEE methylmalonyl-CoA epimerase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P36222 Chitinase-3-like protein 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024