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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
External Links
- Disease Ontology
- DOID:0070489
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
