MCID: BRN112
MIFTS: 18

Brain Dopamine-Serotonin Vesicular Transport Disease

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Brain Dopamine-Serotonin Vesicular Transport Disease

MalaCards integrated aliases for Brain Dopamine-Serotonin Vesicular Transport Disease:

Name: Brain Dopamine-Serotonin Vesicular Transport Disease 20 6

Classifications:



Summaries for Brain Dopamine-Serotonin Vesicular Transport Disease

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 352649 Definition A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. Epidemiology The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date. Clinical description Disease onset presents in infancy with hypotonia, loss of acquired head control and persistent crying and eye deviation. Motor development is delayed and later manifestations include severe parkinsonism, dystonia, ataxia, oculogyric crises, sleep and mood disturbances, temperature instability, excessive diaphoresis, ptosis and postural hypotension. Symptoms show no diurnal variation, do not improve with intake of vitamin B12 or folinic acid and worsened after administration of L-dopa. Etiology Brain dopamine-serotonin vesicular transport disease is 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. Genetic counseling It is inherited in an autosomal recessive manner, and genetic counseling is recommended.

MalaCards based summary : Brain Dopamine-Serotonin Vesicular Transport Disease is related to parkinsonism-dystonia, infantile, 2 and hypotonia. An important gene associated with Brain Dopamine-Serotonin Vesicular Transport Disease is SLC18A2 (Solute Carrier Family 18 Member A2). Affiliated tissues include brain and eye, and related phenotypes are sleep disturbance and abnormality of eye movement

Related Diseases for Brain Dopamine-Serotonin Vesicular Transport Disease

Diseases related to Brain Dopamine-Serotonin Vesicular Transport Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 parkinsonism-dystonia, infantile, 2 11.6
2 hypotonia 10.4
3 parkinsonism 10.2
4 kmt2b-related dystonia 10.2
5 autonomic dysfunction 10.2

Graphical network of the top 20 diseases related to Brain Dopamine-Serotonin Vesicular Transport Disease:



Diseases related to Brain Dopamine-Serotonin Vesicular Transport Disease

Symptoms & Phenotypes for Brain Dopamine-Serotonin Vesicular Transport Disease

Human phenotypes related to Brain Dopamine-Serotonin Vesicular Transport Disease:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 sleep disturbance 31 hallmark (90%) HP:0002360
2 abnormality of eye movement 31 hallmark (90%) HP:0000496
3 ptosis 31 hallmark (90%) HP:0000508
4 hyperhidrosis 31 hallmark (90%) HP:0000975
5 dysarthria 31 hallmark (90%) HP:0001260
6 tremor 31 hallmark (90%) HP:0001337
7 global developmental delay 31 hallmark (90%) HP:0001263
8 cognitive impairment 31 hallmark (90%) HP:0100543
9 fatigue 31 hallmark (90%) HP:0012378
10 nasal speech 31 hallmark (90%) HP:0001611
11 dysdiadochokinesis 31 hallmark (90%) HP:0002075
12 poor head control 31 hallmark (90%) HP:0002421
13 abnormality of the vasculature 31 hallmark (90%) HP:0002597
14 spastic tetraparesis 31 hallmark (90%) HP:0001285
15 stridor 31 hallmark (90%) HP:0010307
16 postnatal microcephaly 31 hallmark (90%) HP:0005484
17 generalized hypotonia 31 hallmark (90%) HP:0001290
18 limb dystonia 31 hallmark (90%) HP:0002451
19 muscular hypotonia of the trunk 31 hallmark (90%) HP:0008936
20 parkinsonism 31 hallmark (90%) HP:0001300
21 orofacial dyskinesia 31 hallmark (90%) HP:0002310
22 shuffling gait 31 hallmark (90%) HP:0002362
23 hypomimic face 31 hallmark (90%) HP:0000338
24 oculogyric crisis 31 hallmark (90%) HP:0010553
25 inappropriate crying 31 hallmark (90%) HP:0030215
26 abnormal foot morphology 31 hallmark (90%) HP:0001760

Drugs & Therapeutics for Brain Dopamine-Serotonin Vesicular Transport Disease

Search Clinical Trials , NIH Clinical Center for Brain Dopamine-Serotonin Vesicular Transport Disease

Genetic Tests for Brain Dopamine-Serotonin Vesicular Transport Disease

Anatomical Context for Brain Dopamine-Serotonin Vesicular Transport Disease

MalaCards organs/tissues related to Brain Dopamine-Serotonin Vesicular Transport Disease:

40
Brain, Eye

Publications for Brain Dopamine-Serotonin Vesicular Transport Disease

Articles related to Brain Dopamine-Serotonin Vesicular Transport Disease:

# Title Authors PMID Year
1
Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans. 61
30266839 2018
2
Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease. 61
28716265 2017
3
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. 61
26497564 2016
4
Brain dopamine-serotonin vesicular transport disease and its treatment. 61
23363473 2013

Variations for Brain Dopamine-Serotonin Vesicular Transport Disease

ClinVar genetic disease variations for Brain Dopamine-Serotonin Vesicular Transport Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC18A2 NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) SNV Likely pathogenic 666409 rs767337086 GRCh37: 10:119014797-119014797
GRCh38: 10:117255286-117255286

Expression for Brain Dopamine-Serotonin Vesicular Transport Disease

Search GEO for disease gene expression data for Brain Dopamine-Serotonin Vesicular Transport Disease.

Pathways for Brain Dopamine-Serotonin Vesicular Transport Disease

GO Terms for Brain Dopamine-Serotonin Vesicular Transport Disease

Sources for Brain Dopamine-Serotonin Vesicular Transport Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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