Details of Disease | DrugMAP

General Information of Disease (ID: DISZ8S4R)

Disease Name	Dopa-responsive dystonia due to sepiapterin reductase deficiency
Synonyms	dystonia, DOPA-responsive, due to sepiapterin reductase deficiency; dopa-responsive dystonia due to sepiapterin reductase deficiency; autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin Reductase Deficiency; SPR deficiency; DRD due to SRD; DYT-SPR; SRD; sepiapterin reductase deficiency
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.
Disease Hierarchy	DISJSFZR: Tetrahydrobiopterin metabolic process disease DISEIJV9: Inherited dystonia DISCW5GN: Dopa-responsive dystonia DISZ8S4R: Dopa-responsive dystonia due to sepiapterin reductase deficiency
Disease Identifiers	MONDO ID MONDO_0012994 MESH ID C562657 UMLS CUI C0268468 OMIM ID 612716 MedGen ID 120642 Orphanet ID 70594 SNOMED CT ID 1187545003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ARAF	TT5TURO	Strong	Genetic Variation	[1]
GCH1	TTLSWP6	Strong	Biomarker	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SPR	DEJVDAT	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MCEE	OTTJP3GM	Strong	Biomarker	[4]
PTS	OTTYWQXR	Strong	Genetic Variation	[5]
SPR	OT1ROA8B	Definitive	Autosomal recessive	[3]
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References

1	Three Cases of Erdheim-Chester Disease With Intraocular Manifestations: Imaging and Histopathology Findings of a Rare Entity.Am J Ophthalmol. 2017 Apr;176:141-147. doi: 10.1016/j.ajo.2017.01.017. Epub 2017 Jan 30.
2	A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.Parkinsonism Relat Disord. 2012 Feb;18(2):191-3. doi: 10.1016/j.parkreldis.2011.10.001. Epub 2011 Oct 21.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
4	Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria.Int J Mol Sci. 2017 Nov 1;18(11):2294. doi: 10.3390/ijms18112294.
5	Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.Sci Rep. 2017 Nov 7;7(1):14675. doi: 10.1038/s41598-017-15063-8.