MCID: BRN112
MIFTS: 12

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 54

Classifications:



Summaries for Brain Dopamine-Serotonin Vesicular Transport Disease

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 352649Disease definitionBrain 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.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. 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:

# Related Disease Score Top Affiliating Genes
1 parkinsonism-dystonia, infantile, 2 12.1

Symptoms & Phenotypes for Brain Dopamine-Serotonin Vesicular Transport Disease

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

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 abnormality of eye movement 33 hallmark (90%) HP:0000496
2 ptosis 33 hallmark (90%) HP:0000508
3 hyperhidrosis 33 hallmark (90%) HP:0000975
4 dysarthria 33 hallmark (90%) HP:0001260
5 tremor 33 hallmark (90%) HP:0001337
6 sleep disturbance 33 hallmark (90%) HP:0002360
7 global developmental delay 33 hallmark (90%) HP:0001263
8 cognitive impairment 33 hallmark (90%) HP:0100543
9 fatigue 33 hallmark (90%) HP:0012378
10 abnormality of the foot 33 hallmark (90%) HP:0001760
11 nasal speech 33 hallmark (90%) HP:0001611
12 abnormality of the vasculature 33 hallmark (90%) HP:0002597
13 dysdiadochokinesis 33 hallmark (90%) HP:0002075
14 generalized hypotonia 33 hallmark (90%) HP:0001290
15 shuffling gait 33 hallmark (90%) HP:0002362
16 spastic tetraparesis 33 hallmark (90%) HP:0001285
17 stridor 33 hallmark (90%) HP:0010307
18 parkinsonism 33 hallmark (90%) HP:0001300
19 postnatal microcephaly 33 hallmark (90%) HP:0005484
20 hypomimic face 33 hallmark (90%) HP:0000338
21 poor head control 33 hallmark (90%) HP:0002421
22 oculogyric crisis 33 hallmark (90%) HP:0010553
23 muscular hypotonia of the trunk 33 hallmark (90%) HP:0008936
24 orofacial dyskinesia 33 hallmark (90%) HP:0002310
25 limb dystonia 33 hallmark (90%) HP:0002451
26 inappropriate crying 33 hallmark (90%) HP:0030215

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:

42
Brain, Eye

Publications for Brain Dopamine-Serotonin Vesicular Transport Disease

Articles related to Brain Dopamine-Serotonin Vesicular Transport Disease:

# Title Authors Year
1
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. ( 26497564 )
2016
2
Brain dopamine-serotonin vesicular transport disease and its treatment. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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