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Disease Ontology Browser
classic dopamine transporter deficiency syndrome (DOID:0070489)
Alliance: disease page
Synonyms: classic DTDS; infantile parkinsonism-dystonia 1; PKDYS1
Alt IDs: OMIM:613135, MESH:C567730, NCI:C129866, ORDO:238455, UMLS_CUI:C2751067
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/17/2024
MGI 6.24 		The Jackson Laboratory