Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
Guidelines
MIRAGE
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
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
6530 SLC6A2 solute carrier family 6 member 2
6531 SLC6A3 solute carrier family 6 member 3
Displaying all 2 entries
Gene ID Gene Symbol Description Source
13162 Slc6a3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
20538 Slc6a2 solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
24898 Slc6a3 solute carrier family 6 member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
36849 DAT Dopamine transporter
Displaying 1 entry
Gene ID Gene Symbol Description Source
176304 dat-1 Sodium-dependent dopamine transporter
About Release Notes Help Feedback
International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.1.1

Last updated: February 17, 2025