BVVLS
MCID: BRW001
MIFTS: 30

Brown-Vialetto-Van Laere Syndrome (BVVLS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases categories
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Summaries for Brown-Vialetto-Van Laere Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Brown-vialetto-van laere syndrome (bvvl) is a type of degenerative nerve disease. initial symptoms occur in infancy to early adulthood and progress with time. the rate of progression can vary from person to person. the syndrome is generally characterized by sensorineural deafness, paralysis of the cranial nerves, and lower and upper motor neuron disease. signs and symptoms may include vocal cord paralysis, drooping eyelids, facial weakness, slurred speech, difficulty swallowing, diminishing eye sight, neck and shoulder weakness, weakness in the arms and legs, autonomic dysfunction, and difficulty breathing. the cause of the syndrome is currently unknown and treatment is supportive. both genetic and sporadic cases have been reported in the medical literature. last updated: 3/23/2010

MalaCards: Brown-Vialetto-Van Laere Syndrome, also known as progressive bulbar palsy with sensorineural deafness, is related to brown-vialetto-van laere syndrome 1 and brown-vialetto-van laere syndrome 2. An important gene associated with Brown-Vialetto-Van Laere Syndrome is SLC52A3 (solute carrier family 52 (riboflavin transporter), member 3), and among its related pathways is Protein processing in endoplasmic reticulum. Affiliated tissues include eye.

Genetics Home Reference:21 Brown-Vialetto-Van Laere syndrome (BVVLS) is a disorder characterized by nerve problems, particularly hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss). The age at which this condition begins varies from infancy to young adulthood. When BVVLS begins in infancy, the first symptom is often breathing problems caused by nerve damage. When the condition begins in children or young adults, sensorineural hearing loss usually occurs first, followed by signs of other nerve problems.

Description from OMIM:47 211530

Aliases & Classifications for Brown-Vialetto-Van Laere Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 62UMLS, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Ear diseases


Aliases & Descriptions:

brown-vialetto-van laere syndrome 8 43 20 22 21 10 62
progressive bulbar palsy with sensorineural deafness 21
pontobulbar palsy and neurosensory deafness 43
pontobulbar palsy with deafness 21
bvvls 21


External Ids:

Disease Ontology8 DOID:0050694
OMIM47 211530

Related Diseases for Brown-Vialetto-Van Laere Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Brown-Vialetto-Van Laere Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brown-vialetto-van laere syndrome 131.5SLC52A3
2brown-vialetto-van laere syndrome 210.8
3neuronitis10.7
4motor neuron disease10.7
5sleep disorder10.6
6madras motor neuron disease10.6
7mental retardation10.6

Graphical network of diseases related to Brown-Vialetto-Van Laere Syndrome:



Diseases related to brown-vialetto-van laere syndrome

Symptoms for Brown-Vialetto-Van Laere Syndrome

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47OMIM
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Clinical features from OMIM:

211530

Drugs & Therapeutics for Brown-Vialetto-Van Laere Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Brown-Vialetto-Van Laere Syndrome

Search NIH Clinical Center for Brown-Vialetto-Van Laere Syndrome

Genetic Tests for Brown-Vialetto-Van Laere Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Brown-Vialetto-Van Laere Syndrome:

id Genetic test Affiliating Genes
1 Brown-Vialetto-Van Laere Syndrome20 22 SLC52A3

Anatomical Context for Brown-Vialetto-Van Laere Syndrome

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33MalaCards
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MalaCards organs/tissues related to Brown-Vialetto-Van Laere Syndrome:

33
Eye

Animal Models for Brown-Vialetto-Van Laere Syndrome or affiliated genes

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Publications for Brown-Vialetto-Van Laere Syndrome

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52PubMed
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Articles related to Brown-Vialetto-Van Laere Syndrome:

(show all 36)
idTitleAuthorsYear
1
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. (23750839)
2013
2
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. (23688382)
2013
3
Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features. (24206674)
2013
4
Brown-Vialetto-Van Laere syndrome: Cinical and neuroradiological findings of a genetically proven patient. (24079556)
2013
5
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. (24139842)
2013
6
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. (22772932)
2012
7
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. (22786578)
2012
8
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. (22633641)
2012
9
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. (22098162)
2012
10
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. (22864630)
2012
11
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. (22766032)
2012
12
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. (22718020)
2012
13
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. (22211384)
2012
14
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. (24250848)
2011
15
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. (20955635)
2011
16
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. (20206331)
2010
17
Exome sequencing in Brown-Vialetto-van Laere syndrome. (20920669)
2010
18
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. (20001484)
2010
19
Anesthesia in Brown-Vialetto-Van Laere syndrome. (19807888)
2009
20
Brown-Vialetto-Van Laere syndrome. (18416855)
2008
21
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. (17669429)
2007
22
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. (17420823)
2007
23
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging: new finding in three siblings. (16948939)
2006
24
Cardiac arrest in a patient with Brown-Vialetto-Van Laere syndrome. (16963409)
2006
25
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome. (16009552)
2005
26
Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology. (15992475)
2005
27
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. (16122634)
2005
28
Brown-Vialetto-van Laere syndrome; the first Turkish case. (15508264)
2004
29
Mental retardation associated with Brown-Vialetto-Van Laere syndrome. (12745620)
2003
30
Brown-Vialetto-Van Laere syndrome: case report and literature review. (11465021)
2000
31
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? (10797435)
2000
32
The Brown-Vialetto-van Laere syndrome: a case report and literature review. (24283429)
1994
33
Brown-Vialetto-Van Laere syndrome. (8474605)
1993
34
Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset. (1512615)
1992
35
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. (2325091)
1990
36
Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome). (7229669)
1981

Variations for Brown-Vialetto-Van Laere Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Brown-Vialetto-Van Laere Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC52A3NM_033409.3(SLC52A3): c.211G> T (p.Glu71Ter)single nucleotide variantPathogenicrs267606683GRCh37Chr 20, 746208: 746208
2SLC52A3NM_033409.3(SLC52A3): c.394C> T (p.Arg132Trp)single nucleotide variantPathogenicrs267606684GRCh37Chr 20, 746025: 746025
3SLC52A3NM_033409.3(SLC52A3): c.670T> C (p.Phe224Leu)single nucleotide variantPathogenicrs267606685GRCh37Chr 20, 744545: 744545
4SLC52A3NM_033409.3(SLC52A3): c.106G> A (p.Glu36Lys)single nucleotide variantPathogenicrs267606686GRCh37Chr 20, 746313: 746313
5SLC52A3NM_033409.3(SLC52A3): c.1238T> C (p.Val413Ala)single nucleotide variantPathogenicrs267606687GRCh37Chr 20, 741842: 741842
6SLC52A3NM_033409.3(SLC52A3): c.82C> A (p.Pro28Thr)single nucleotide variantPathogenicrs267606688GRCh37Chr 20, 746337: 746337

Expression for genes affiliated with Brown-Vialetto-Van Laere Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brown-Vialetto-Van Laere Syndrome

Search GEO for disease gene expression data for Brown-Vialetto-Van Laere Syndrome.

Pathways for genes affiliated with Brown-Vialetto-Van Laere Syndrome

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50PathCards, 30KEGG
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Pathways related to Brown-Vialetto-Van Laere Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1UBQLN2, UBQLN1

Compounds for genes affiliated with Brown-Vialetto-Van Laere Syndrome

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GO Terms for genes affiliated with Brown-Vialetto-Van Laere Syndrome

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16Gene Ontology
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Biological processes related to Brown-Vialetto-Van Laere Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1riboflavin transportGO:0322189.3SLC52A2, SLC52A3

Molecular functions related to Brown-Vialetto-Van Laere Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1riboflavin transporter activityGO:0322179.3SLC52A2, SLC52A3

Products for genes affiliated with Brown-Vialetto-Van Laere Syndrome

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Sources for Brown-Vialetto-Van Laere Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet