Details of Disease | DrugMAP

General Information of Disease (ID: DISQKVW8)

Disease Name	Brain dopamine-serotonin vesicular transport disease
Synonyms	parkinsonism-dystonia, infantile, 2; PKDYS2
Definition	An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
Disease Hierarchy	DISJ5YRX: Inborn disorder of neurotransmitter metabolism and transport DISUX01X: Parkinsonism-dystonia, infantile DISQKVW8: Brain dopamine-serotonin vesicular transport disease
Disease Identifiers	MONDO ID MONDO_0018130 UMLS CUI C4303546 MedGen ID 929215 Orphanet ID 352649 SNOMED CT ID 717942003

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
SLC18A2	DTT7VPB	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC18A2	OTUOMMM6	Supportive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Brain dopamine-serotonin vesicular transport disease and its treatment. N Engl J Med. 2013 Feb 7;368(6):543-50. doi: 10.1056/NEJMoa1207281. Epub 2013 Jan 30.