MCID: BRW001
MIFTS: 31

Brown-Vialetto-Van Laere Syndrome malady

Genetic diseases (common), Ear diseases categories

Aliases & Classifications for Brown-Vialetto-Van Laere Syndrome

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Aliases & Descriptions for Brown-Vialetto-Van Laere Syndrome:

Name: Brown-Vialetto-Van Laere Syndrome 10 22 23 12 24 65
Progressive Bulbar Palsy with Sensorineural Deafness 22 23
 
Pontobulbar Palsy with Deafness 22 23
Bvvls 22 23


Classifications:



External Ids:

Disease Ontology10 DOID:0050694

Summaries for Brown-Vialetto-Van Laere Syndrome

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Genetics Home Reference:23 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.

MalaCards based summary: Brown-Vialetto-Van Laere Syndrome, also known as progressive bulbar palsy with sensorineural deafness, is related to brown-vialetto-van laere syndrome 2 and brown-vialetto-van laere syndrome 1. 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 Neuroscience.

Related Diseases for Brown-Vialetto-Van Laere Syndrome

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Diseases related to Brown-Vialetto-Van Laere Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1brown-vialetto-van laere syndrome 211.1
2brown-vialetto-van laere syndrome 111.1
3fazio-londe disease10.7
4motor neuron disease10.7
5neuronitis10.7
6cardiac arrest10.6
7neuropathy10.6
8sleep disorder10.6
9auditory neuropathy10.6
10madras motor neuron disease10.6
11riboflavin transporter deficiency10.6
12sall4-related disorders10.2SLC52A2, SLC52A3
13richards-rundle syndrome10.2SLC52A2, SLC52A3
14pericardial effusion10.2SLC52A2, SLC52A3
15mahvash disease10.1SLC52A1, SLC52A2, SLC52A3
16hilar cholangiocellular carcinoma10.1SLC52A1, SLC52A2, SLC52A3
17amyotrophic lateral sclerosis type 1610.1ALS2, TARDBP
18childhood multilocular cystic kidney neoplasm10.1TARDBP, UBQLN2
19amyotrophic lateral sclerosis 1110.1ALS2, TARDBP
20plummer's disease10.1SLC52A2, SLC52A3
21diabetes insipidus, neurohypophyseal10.0ALS2, TARDBP
22semmekrot haraldsson weemaes syndrome10.0C9orf72, TARDBP
23specific granule deficiency10.0ALS2, TARDBP
24tenosynovial giant cell tumor10.0C9orf72, TARDBP
25spinal muscular atrophy-110.0ALS2, NAIP
26basophil adenoma9.9C9orf72, TARDBP
27amyotrophic lateral sclerosis 2, juvenile9.9ALS2, SOD1
28intestinal tuberculosis9.9ALS2, SOD1
29peripheral vascular disease9.9C9orf72, TARDBP
30benign ependymoma9.9C9orf72, TARDBP, UBQLN2
31ftdals29.9C9orf72, TARDBP, UBQLN2
32mast syndrome9.8ALS2, C9orf72, TARDBP
33demyelinating disease9.8C9orf72, TARDBP, UBQLN2
34vasomotor rhinitis9.8ALS2, SOD1, TARDBP
35retinitis pigmentosa 139.7C9orf72, SOD1, TARDBP
36amyotrophic lateral sclerosis 219.7C9orf72, SOD1, TARDBP
37pick disease9.5C9orf72, SOD1, TARDBP, UBQLN2
38neurilemmoma9.4C9orf72, SOD1, TARDBP
39ankylosis9.4ALS2, C9orf72, SOD1, TARDBP, UBQLN2
40central nervous system germ cell tumor9.4ALS2, C9orf72, SOD1, TARDBP, UBQLN2
41mucolipidoses9.3ALS2, C9orf72, NAIP, SOD1, TARDBP
42jervell and lange-nielsen syndrome 29.2ALS2, C9orf72, NAIP, SOD1, TARDBP, UBQLN2
43granular cell carcinoma8.6ALS2, C9orf72, NAIP, SLC52A1, SLC52A2, SLC52A3

Graphical network of the top 20 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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Drugs & Therapeutics for Brown-Vialetto-Van Laere Syndrome

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Interventional clinical trials:

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

Genetic Tests for Brown-Vialetto-Van Laere Syndrome

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Genetic tests related to Brown-Vialetto-Van Laere Syndrome:

id Genetic test Affiliating Genes
1 Brown-Vialetto-Van Laere Syndrome22 24 SLC52A3

Anatomical Context for Brown-Vialetto-Van Laere Syndrome

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

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MGI Mouse Phenotypes related to Brown-Vialetto-Van Laere Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Brown-Vialetto-Van Laere Syndrome

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Articles related to Brown-Vialetto-Van Laere Syndrome:

(show all 42)
idTitleAuthorsYear
1
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. (26444347)
2015
2
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. (25462087)
2015
3
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. (25994385)
2015
4
Brown-Vialetto-Van Laere syndrome: a 28-year follow-up. (26443808)
2015
5
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. (23750839)
2013
6
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. (23688382)
2013
7
Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features. (24206674)
2013
8
Brown-Vialetto-Van Laere syndrome: Cinical and neuroradiological findings of a genetically proven patient. (24079556)
2013
9
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. (24470831)
2013
10
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. (24139842)
2013
11
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. (22772932)
2012
12
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. (22786578)
2012
13
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. (22633641)
2012
14
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. (22098162)
2012
15
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. (22864630)
2012
16
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. (22766032)
2012
17
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. (22718020)
2012
18
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. (22211384)
2012
19
Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report. (21055769)
2011
20
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. (24250848)
2011
21
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. (20955635)
2011
22
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. (20206331)
2010
23
Exome sequencing in Brown-Vialetto-van Laere syndrome. (20920669)
2010
24
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. (20001484)
2010
25
Anesthesia in Brown-Vialetto-Van Laere syndrome. (19807888)
2009
26
Brown-Vialetto-Van Laere syndrome. (18416855)
2008
27
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. (17669429)
2007
28
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. (17420823)
2007
29
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
30
Cardiac arrest in a patient with Brown-Vialetto-Van Laere syndrome. (16963409)
2006
31
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome. (16009552)
2005
32
Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology. (15992475)
2005
33
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. (16122634)
2005
34
Brown-Vialetto-van Laere syndrome; the first Turkish case. (15508264)
2004
35
Mental retardation associated with Brown-Vialetto-Van Laere syndrome. (12745620)
2003
36
Brown-Vialetto-Van Laere syndrome: case report and literature review. (11465021)
2000
37
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? (10797435)
2000
38
The Brown-Vialetto-van Laere syndrome: a case report and literature review. (24283429)
1994
39
Brown-Vialetto-Van Laere syndrome. (8474605)
1993
40
Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset. (1512615)
1992
41
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. (2325091)
1990
42
Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome). (7229669)
1981

Variations for Brown-Vialetto-Van Laere Syndrome

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Clinvar genetic disease variations for Brown-Vialetto-Van Laere Syndrome:

5 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC52A3NM_033409.3(SLC52A3): c.1325_1326delTC (p.Leu442Argfs)deletionPathogenicrs794728004GRCh37Chr 20, 741754: 741755
2SLC52A3NM_033409.3(SLC52A3): c.211G> T (p.Glu71Ter)single nucleotide variantPathogenicrs267606683GRCh37Chr 20, 746208: 746208
3SLC52A3NM_033409.3(SLC52A3): c.394C> T (p.Arg132Trp)single nucleotide variantPathogenicrs267606684GRCh37Chr 20, 746025: 746025
4SLC52A3NM_033409.3(SLC52A3): c.670T> C (p.Phe224Leu)single nucleotide variantPathogenicrs267606685GRCh37Chr 20, 744545: 744545
5SLC52A3NM_033409.3(SLC52A3): c.106G> A (p.Glu36Lys)single nucleotide variantPathogenicrs267606686GRCh37Chr 20, 746313: 746313
6SLC52A3NM_033409.3(SLC52A3): c.1238T> C (p.Val413Ala)single nucleotide variantPathogenicrs267606687GRCh37Chr 20, 741842: 741842
7SLC52A3NM_033409.3(SLC52A3): c.82C> A (p.Pro28Thr)single nucleotide variantPathogenicrs267606688GRCh37Chr 20, 746337: 746337
8SLC52A3NM_033409.3(SLC52A3): c.49T> C (p.Trp17Arg)single nucleotide variantPathogenicrs797045190GRCh38Chr 20, 765726: 765726
9SLC52A3NM_033409.3(SLC52A3): c.62A> G (p.Asn21Ser)single nucleotide variantPathogenicrs199588390GRCh38Chr 20, 765713: 765713
10SLC52A3NM_033409.3(SLC52A3): c.160G> A (p.Gly54Arg)single nucleotide variantPathogenicrs797045191GRCh38Chr 20, 765615: 765615
11SLC52A3NM_033409.3(SLC52A3): c.173T> A (p.Val58Asp)single nucleotide variantPathogenicrs797045192GRCh38Chr 20, 765602: 765602
12SLC52A3NM_033409.3(SLC52A3): c.211G> A (p.Glu71Lys)single nucleotide variantPathogenicrs267606683GRCh37Chr 20, 746208: 746208
13SLC52A3NM_033409.3(SLC52A3): c.224T> C (p.Ile75Thr)single nucleotide variantPathogenicrs797045193GRCh37Chr 20, 746195: 746195
14SLC52A3NM_033409.3(SLC52A3): c.639C> G (p.Tyr213Ter)single nucleotide variantPathogenicrs778363575GRCh38Chr 20, 763932: 763932
15SLC52A3NM_033409.3(SLC52A3): c.659C> A (p.Pro220His)single nucleotide variantPathogenicrs797045194GRCh37Chr 20, 744556: 744556
16SLC52A3NM_033409.3(SLC52A3): c.796C> T (p.Arg266Trp)single nucleotide variantPathogenicrs370499474GRCh38Chr 20, 763775: 763775
17SLC52A3NM_033409.3(SLC52A3): c.935C> T (p.Ala312Val)single nucleotide variantPathogenicrs752218005GRCh37Chr 20, 744280: 744280
18SLC52A3NM_033409.3(SLC52A3): c.955C> T (p.Pro319Ser)single nucleotide variantPathogenicrs797045195GRCh37Chr 20, 744260: 744260
19SLC52A3NM_033409.3(SLC52A3): c.989G> T (p.Gly330Val)single nucleotide variantPathogenicrs797045196GRCh37Chr 20, 744226: 744226
20SLC52A3NM_033409.3(SLC52A3): c.1048T> A (p.Leu350Met)single nucleotide variantPathogenicrs76947760GRCh38Chr 20, 763523: 763523
21SLC52A3NM_033409.3(SLC52A3): c.1198-2A> Csingle nucleotide variantPathogenicrs754753126GRCh38Chr 20, 761240: 761240
22SLC52A3NM_033409.3(SLC52A3): c.1296C> A (p.Cys432Ter)single nucleotide variantPathogenicrs758570021GRCh37Chr 20, 741784: 741784
23SLC52A3NM_033409.3(SLC52A3): c.1371C> G (p.Phe457Leu)single nucleotide variantPathogenicrs145431028GRCh38Chr 20, 761065: 761065
24SLC52A3NM_033409.3(SLC52A3): c.374C> A (p.Thr125Asn)single nucleotide variantPathogenicrs767263985GRCh38Chr 20, 765401: 765401
25SLC52A3NM_033409.3(SLC52A3): c.403A> G (p.Thr135Ala)single nucleotide variantPathogenicrs527853872GRCh37Chr 20, 746016: 746016
26SLC52A3NM_033409.3(SLC52A3): c.634C> T (p.Arg212Cys)single nucleotide variantPathogenicrs778479139GRCh37Chr 20, 744581: 744581
27SLC52A3NM_033409.3(SLC52A3): c.671T> G (p.Phe224Cys)single nucleotide variantPathogenicrs797045197GRCh37Chr 20, 744544: 744544
28SLC52A3NM_033409.3(SLC52A3): c.1255G> A (p.Val419Met)single nucleotide variantPathogenicrs797045198GRCh38Chr 20, 761181: 761181
29SLC52A3SLC52A3, TRP17ARGundetermined variantPathogenic
30SLC52A3SLC52A3, TYR213TERundetermined variantPathogenic

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

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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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Pathways related to Brown-Vialetto-Van Laere Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.3SOD1, TARDBP, UBQLN1, UBQLN2

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

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Cellular components related to Brown-Vialetto-Van Laere Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1autophagosomeGO:00057769.5C9orf72, UBQLN1, UBQLN2
2neuronal cell bodyGO:00430258.7ALS2, NAIP, SOD1
3cytoplasmic vesicleGO:00314108.4C9orf72, SOD1, UBQLN1, UBQLN2
4neuron projectionGO:00430058.4ALS2, NAIP, SOD1

Biological processes related to Brown-Vialetto-Van Laere Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1riboflavin transportGO:003221810.0SLC52A1, SLC52A2, SLC52A3
2regulation of macroautophagyGO:001624110.0UBQLN1, UBQLN2
3positive regulation of ER-associated ubiquitin-dependent protein catabolic processGO:190307110.0UBQLN1, UBQLN2
4regulation of autophagosome assemblyGO:20007859.9UBQLN1, UBQLN2
5response to endoplasmic reticulum stressGO:00349769.6TARDBP, UBQLN1
6ER-associated ubiquitin-dependent protein catabolic processGO:00304339.4UBQLN1, UBQLN2
7response to axon injuryGO:00486789.4NAIP, SOD1
8regulation of GTPase activityGO:00430879.3ALS2, SOD1

Molecular functions related to Brown-Vialetto-Van Laere Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1riboflavin transporter activityGO:00322179.9SLC52A1, SLC52A2, SLC52A3
2virus receptor activityGO:00016189.8SLC52A1, SLC52A2

Sources for Brown-Vialetto-Van Laere Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet