Brain Dopamine-serotonin Vesicular Transport Disease

Description

Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.

Clinical Features

Top most frequent phenotypes and symptoms related to Brain Dopamine-serotonin Vesicular Transport Disease

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait disturbance

And another 27 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Brain Dopamine-serotonin Vesicular Transport Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS panel - Parkinson.

By Genome Diagnostics VU University Medical Center (Netherlands).

ATXN2, SLC18A2, SLC6A3, SNCA, SPR, SYNJ1, TAF1, TH, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, ATP6AP2, LRRK2, SLC30A10, DCTN1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
SLC18A2.

By Fulgent Genetics Fulgent Genetics (United States).

SLC18A2
Specificity
100 %
Genes
100 %

We have -6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like DYSOSTEOSCLEROSIS BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2; EKVP2 WHIM SYNDROME; WHIMS CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; CAPOS

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