MCID: BRW001
MIFTS: 30

Brown-Vialetto-Van Laere Syndrome malady

Categories: Genetic diseases (common), Ear diseases

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 11 23 13 25 66
Progressive Bulbar Palsy with Sensorineural Deafness 23
 
Pontobulbar Palsy with Deafness 23
Bvvls 23

Classifications:



External Ids:

Disease Ontology11 DOID:0050694

Summaries for Brown-Vialetto-Van Laere Syndrome

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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, and has symptoms including dyspnea, dyspnea and muscular fasciculation. An important gene associated with Brown-Vialetto-Van Laere Syndrome is SLC52A3 (Solute Carrier Family 52 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 47)
idRelated DiseaseScoreTop Affiliating Genes
1brown-vialetto-van laere syndrome 212.8
2brown-vialetto-van laere syndrome 112.8
3riboflavin transporter deficiency neuronopathy11.7
4riboflavin transporter deficiency11.7
5neuronitis10.7
6scn1a-related seizure disorders10.6SLC52A2, SLC52A3
7brunoni syndrome10.6SLC52A2, SLC52A3
8fazio-londe disease10.6
9motor neuron disease10.6
10neuropathy10.6
11auditory neuropathy10.6
12solar retinopathy10.6SLC52A2, SLC52A3
13chromosome 4q32.1-q32.2 triplication syndrome10.6FLAD1, SLC52A1
14childhood pilocytic astrocytoma10.5SLC52A2, SLC52A3
15cardiac arrest10.4
16sleep disorder10.4
17madras motor neuron disease10.4
18mahvash disease10.3SLC52A1, SLC52A2, SLC52A3
19amyotrophic lateral sclerosis type 1610.2TARDBP, UBQLN2
20mental retardation, autosomal recessive 3310.2FLAD1, SLC52A1
21amyotrophic lateral sclerosis type 1510.1ALS2, TARDBP
22yunis-varon syndrome10.1ALS2, TARDBP
23retinitis pigmentosa 4610.0ALS2, TARDBP
24testicular seminoma10.0C9orf72, TARDBP
25childhood oligodendroglioma10.0C9orf72, TARDBP
26anti-p200 pemphigoid9.9C9orf72, TARDBP
27specific granule deficiency9.9ALS2, TARDBP
28andersen syndrome9.9C9orf72, TARDBP
29amyotrophic lateral sclerosis type 59.9ALS2, SOD1
30retrograde amnesia9.9C9orf72, TARDBP
31perry syndrome9.7C9orf72, TARDBP
32amyotrophic lateral sclerosis 2, juvenile9.7ALS2, SOD1
33balo concentric sclerosis9.7C9orf72, TARDBP, UBQLN2
34colon kaposi sarcoma9.7C9orf72, TARDBP, UBQLN2
35mast syndrome9.6ALS2, C9orf72, TARDBP
36spinal muscular atrophy-29.6ALS2, NAIP
37amyotrophic lateral sclerosis type 149.4ALS2, SOD1, TARDBP
38microsporidiosis9.4SOD1, TARDBP
39osteogenesis imperfecta, type vi9.3C9orf72, SOD1, TARDBP
40neuromyotonia and axonal neuropathy, autosomal recessive9.3C9orf72, SOD1, TARDBP
41angiomyolipoma9.2C9orf72, SOD1, TARDBP
42chronic intestinal vascular insufficiency9.2C9orf72, SOD1, TARDBP
43pick disease8.9C9orf72, SOD1, TARDBP, UBQLN2
44atrophy of prostate8.5ALS2, C9orf72, SOD1, TARDBP, UBQLN2
45mucopolysaccharidosis iii8.4ALS2, C9orf72, NAIP, SOD1, TARDBP
46long qt syndrome 58.0ALS2, C9orf72, NAIP, SOD1, TARDBP, UBQLN2
47fetal alcohol spectrum disorder6.4ALS2, C9orf72, FLAD1, NAIP, SLC52A1, SLC52A2

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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UMLS symptoms related to Brown-Vialetto-Van Laere Syndrome:


dyspnea, muscular fasciculation, stridor, clumsiness, myopathic facies, facial paresis, diaphragmatic paresis

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 Syndrome25 23 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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Publications for Brown-Vialetto-Van Laere Syndrome

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Articles related to Brown-Vialetto-Van Laere Syndrome:

(show all 44)
idTitleAuthorsYear
1
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. (26976849)
2016
2
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. (26918385)
2016
3
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. (26444347)
2015
4
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. (25994385)
2015
5
Brown-Vialetto-Van Laere syndrome: a 28-year follow-up. (26443808)
2015
6
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. (25462087)
2015
7
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. (23750839)
2013
8
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. (24139842)
2013
9
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. (23688382)
2013
10
Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features. (24206674)
2013
11
Brown-Vialetto-Van Laere syndrome: Cinical and neuroradiological findings of a genetically proven patient. (24079556)
2013
12
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. (24470831)
2013
13
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. (22772932)
2012
14
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. (22786578)
2012
15
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. (22098162)
2012
16
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. (22718020)
2012
17
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. (22633641)
2012
18
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. (22864630)
2012
19
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. (22766032)
2012
20
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. (22211384)
2012
21
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. (24250848)
2011
22
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. (20955635)
2011
23
Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report. (21055769)
2011
24
Exome sequencing in Brown-Vialetto-van Laere syndrome. (20920669)
2010
25
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. (20206331)
2010
26
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. (20001484)
2010
27
Anesthesia in Brown-Vialetto-Van Laere syndrome. (19807888)
2009
28
Brown-Vialetto-Van Laere syndrome. (18416855)
2008
29
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. (17669429)
2007
30
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. (17420823)
2007
31
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
32
Cardiac arrest in a patient with Brown-Vialetto-Van Laere syndrome. (16963409)
2006
33
Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology. (15992475)
2005
34
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. (16122634)
2005
35
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome. (16009552)
2005
36
Brown-Vialetto-van Laere syndrome; the first Turkish case. (15508264)
2004
37
Mental retardation associated with Brown-Vialetto-Van Laere syndrome. (12745620)
2003
38
Brown-Vialetto-Van Laere syndrome: case report and literature review. (11465021)
2000
39
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? (10797435)
2000
40
The Brown-Vialetto-van Laere syndrome: a case report and literature review. (24283429)
1994
41
Brown-Vialetto-Van Laere syndrome. (8474605)
1993
42
Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset. (1512615)
1992
43
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. (2325091)
1990
44
Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome). (7229669)
1981

Variations for Brown-Vialetto-Van Laere Syndrome

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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 pathwaysScoreTop Affiliating Genes
18.8SOD1, TARDBP, UBQLN1

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
2neuron projectionGO:00430058.4ALS2, NAIP, SOD1
3cytoplasmic vesicleGO:00314108.3C9orf72, SOD1, UBQLN1, UBQLN2

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

idNameGO IDScoreTop Affiliating Genes
1riboflavin metabolic processGO:000677110.3FLAD1, SLC52A3
2riboflavin transportGO:003221810.0SLC52A1, SLC52A2, SLC52A3
3positive regulation of ER-associated ubiquitin-dependent protein catabolic processGO:190307110.0UBQLN1, UBQLN2
4ER-associated ubiquitin-dependent protein catabolic processGO:00304339.6UBQLN1, UBQLN2
5regulation of GTPase activityGO:00430879.3ALS2, SOD1
6response to axon injuryGO:00486789.1NAIP, SOD1

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

idNameGO IDScoreTop Affiliating Genes
1riboflavin transporter activityGO:00322179.6SLC52A1, SLC52A2, SLC52A3

Sources for Brown-Vialetto-Van Laere Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet