| 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 |
| SKOS |
exactMatch SNOMEDCT_US_2023_03_01:722763000 exactMatch GARD:10484 exactMatch MIM:613135 exactMatch ORDO:238455 exactMatch MESH:C567730 exactMatch NCI:C129866 exactMatch UMLS_CUI:C2751067 broadMatch MIM:PS613135 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
classic DTDS [EXACT] infantile parkinsonism-dystonia 1 [EXACT] PKDYS1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some Infantile onset has material basis in some autosomal recessive inheritance |