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.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (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.

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 %

You can get up to -6 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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