MCID: BRN112
MIFTS: 13

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 53

Classifications:



Summaries for Brain Dopamine-Serotonin Vesicular Transport Disease

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 352649DefinitionA rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.EpidemiologyThe prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date.Clinical descriptionDisease 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.EtiologyBrain 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 counselingIt is inherited in an autosomal recessive manner, and genetic counseling is recommended.Visit the Orphanet disease page for more resources.

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 abnormality of eye movement and ptosis

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:

(showing 4, show less)
# Related Disease Score Top Affiliating Genes
1 parkinsonism-dystonia, infantile, 2 12.2
2 hypotonia 10.4
3 kmt2b-related dystonia 10.2
4 autonomic dysfunction 10.2

Symptoms & Phenotypes for Brain Dopamine-Serotonin Vesicular Transport Disease

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

32 (showing 26, show less)
# Description HPO Frequency HPO Source Accession
1 abnormality of eye movement 32 hallmark (90%) HP:0000496
2 ptosis 32 hallmark (90%) HP:0000508
3 hyperhidrosis 32 hallmark (90%) HP:0000975
4 dysarthria 32 hallmark (90%) HP:0001260
5 tremor 32 hallmark (90%) HP:0001337
6 sleep disturbance 32 hallmark (90%) HP:0002360
7 global developmental delay 32 hallmark (90%) HP:0001263
8 cognitive impairment 32 hallmark (90%) HP:0100543
9 fatigue 32 hallmark (90%) HP:0012378
10 hypomimic face 32 hallmark (90%) HP:0000338
11 generalized hypotonia 32 hallmark (90%) HP:0001290
12 abnormality of the foot 32 hallmark (90%) HP:0001760
13 nasal speech 32 hallmark (90%) HP:0001611
14 abnormality of the vasculature 32 hallmark (90%) HP:0002597
15 dysdiadochokinesis 32 hallmark (90%) HP:0002075
16 shuffling gait 32 hallmark (90%) HP:0002362
17 spastic tetraparesis 32 hallmark (90%) HP:0001285
18 poor head control 32 hallmark (90%) HP:0002421
19 stridor 32 hallmark (90%) HP:0010307
20 parkinsonism 32 hallmark (90%) HP:0001300
21 postnatal microcephaly 32 hallmark (90%) HP:0005484
22 oculogyric crisis 32 hallmark (90%) HP:0010553
23 muscular hypotonia of the trunk 32 hallmark (90%) HP:0008936
24 inappropriate crying 32 hallmark (90%) HP:0030215
25 orofacial dyskinesia 32 hallmark (90%) HP:0002310
26 limb dystonia 32 hallmark (90%) HP:0002451

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:

41
Brain, Eye

Publications for Brain Dopamine-Serotonin Vesicular Transport Disease

Articles related to Brain Dopamine-Serotonin Vesicular Transport Disease:

(showing 4, show less)
# Title Authors PMID Year
1
Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans. 38
30266839 2018
2
Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease. 38
28716265 2017
3
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. 38
26497564 2016
4
Brain dopamine-serotonin vesicular transport disease and its treatment. 38
23363473 2013

Variations for Brain Dopamine-Serotonin Vesicular Transport Disease

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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