classic dopamine transporter deficiency syndrome

Term ID

DOID:0070489

Synonyms

• classic DTDS
• infantile parkinsonism-dystonia 1
• PKDYS1

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. (2)

References

• GARD:10484
• MESH:C567730
• NCI:C129866
• OMIM:613135
• ORDO:238455
• SNOMEDCT_US_2023_03_01:722763000
• UMLS_CUI:C2751067

Ontology

Human Disease   ( DOID:0070489 )