| Metadata | |
|---|---|
| ID | DOID:0070489 |
| Name | classic dopamine transporter deficiency syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/37443770/, https://www.ncbi.nlm.nih.gov/books/NBK442323/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:722763000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
classic DTDS [EXACT] infantile parkinsonism-dystonia 1 [EXACT] PKDYS1 [EXACT] |
| Parent Relationships |