Details of Disease | DrugMAP

General Information of Disease (ID: DIS8JB37)

Disease Name	Classic dopamine transporter deficiency syndrome
Synonyms	dopamine transporter deficiency syndrome; PKDYS; classic DTDS; PKDYS1; Parkinsonism-dystonia, infantile, 1
Definition	Classic Dopamine Transporter Deficiency Syndrome describes a subset of SLC6A3-related DTDS cases which present in early infancy. This disorder is usually first identified by neonatal distress and irritability, feeding difficulties, and motor developmental delay.
Disease Hierarchy	DISI6ZWZ: SLC6A3-related dopamine transporter deficiency syndrome DISUX01X: Parkinsonism-dystonia, infantile DIS8JB37: Classic dopamine transporter deficiency syndrome
Disease Identifiers	MONDO ID MONDO_0054835 UMLS CUI C5700336 OMIM ID 613135 MedGen ID 1814585

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC6A3	DT3BA8L	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC6A3	OT39XG28	Definitive	Autosomal recessive	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.