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brain dopamine-serotonin vesicular transport disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

brain dopamine-serotonin vesicular transport disease

MONDO:0018130

Also known as:PKDYS2parkinsonism-dystonia, infantile, 2

Overview

An infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.

GeneticsAutosomal recessive · SLC18A2 (chr 10)

OnsetINFANTILE, JUVENILE

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Poor head control, Mild intellectual disability, Dystonia, and Shuffling gait and others. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Mild intellectual disability, Dystonia, Shuffling gait

Genetic Landscape

SLC18A2 function has not been fully characterized.

Brain dopamine-serotonin vesicular transport disease is caused by mutations in the SLC18A2 gene on chromosome 10.

Diagnosis

Genetic testing for SLC18A2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 27 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for brain dopamine-serotonin vesicular transport disease.

1 publication has been identified in PubMed for brain dopamine-serotonin vesicular transport disease. Research spans Gene Therapy / Novel Therapeutics (100%).

Recent Publications

Li C (2025). [PMID: 40268947](https://pubmed.ncbi.nlm.nih.gov/40268947/). *Schizophrenia (Heidelb)*. [Gene Therapy / Novel Therapeutics]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618049

Orphanet

European rare disease database

Orphanet:352649

GARD

Genetic and Rare Diseases Info Center

GARD:13594

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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brain dopamine-serotonin vesicular transport disease

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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