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GTR Home > Conditions/Phenotypes > Brain dopamine-serotonin vesicular transport disease

Brain dopamine-serotonin vesicular transport disease

Synonyms
BRAIN MONOAMINE VESICULAR TRANSPORT DISEASE; PARKINSONISM-DYSTONIA 2, INFANTILE-ONSET; Parkinsonism-dystonia, infantile, 2
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

An infantile-onset neurometabolic disease with characteristics of dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date. Caused by a mutation in the SLC18A2 gene (10q25), encoding the vesicular monoamine transporter 2 (VMAT2) which is responsible for the transport of dopamine and serotonin into synaptic vesicles. Mutations in this gene lead to the impairment of VMAT2 and consequently to problems with motor control, autonomic functioning and mood regulation. It is inherited in an autosomal recessive manner. [from SNOMEDCT_US]

Available tests

6 tests are in the database for this condition.

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Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PKDYS2, SVAT, SVMT, VAT2, VMAT2, SLC18A2
    Summary: solute carrier family 18 member A2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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