classic dopamine transporter deficiency syndrome

Summary
Synonym
  • PKDYS1
  • classic DTDS
  • infantile parkinsonism-dystonia 1
Definition
A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid.
Super Class
autosomal recessive disease dopamine transporter deficiency syndrome
Disease Ontology
DOID:0070489
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6531 SLC6A3 solute carrier family 6 member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
36849 DAT Dopamine transporter
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q01959 Sodium-dependent dopamine transporter
Displaying 1 entry
UniProt ID Protein Name Source
Q7K4Y6 Sodium-dependent dopamine transporter

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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: April 7, 2025