BVVLS
MCID: BRW001
MIFTS: 30

Brown-Vialetto-Van Laere Syndrome (BVVLS) malady

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Brown-Vialetto-Van Laere Syndrome

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

Name: Brown-Vialetto-Van Laere Syndrome 12 24 29 14 69
Progressive Bulbar Palsy with Sensorineural Deafness 24
Pontobulbar Palsy with Deafness 24
Bvvls 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0050694

Summaries for Brown-Vialetto-Van Laere Syndrome

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, muscular fasciculation and stridor. An important gene associated with Brown-Vialetto-Van Laere Syndrome is SLC52A3 (Solute Carrier Family 52 Member 3), and among its related pathways/superpathways are Neuroscience and Metabolism of water-soluble vitamins and cofactors.

Related Diseases for Brown-Vialetto-Van Laere Syndrome

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

(show all 46)
id Related Disease Score Top Affiliating Genes
1 brown-vialetto-van laere syndrome 2 12.8
2 brown-vialetto-van laere syndrome 1 12.8
3 riboflavin transporter deficiency neuronopathy 11.6
4 riboflavin transporter deficiency 11.6
5 neuronitis 10.5
6 fazio-londe disease 10.4
7 motor neuron disease 10.4
8 neuropathy 10.4
9 auditory neuropathy 10.4
10 cardiac arrest 10.3
11 sleep disorder 10.3
12 madras motor neuron disease 10.3
13 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 10.3 SLC52A2 SLC52A3
14 ring chromosome 12 10.3 SLC52A2 SLC52A3
15 peripheral scars of retina 10.3 SLC52A2 SLC52A3
16 breast intraductal proliferative lesion 10.2 SLC52A2 SLC52A3
17 malignant cylindroma 10.2 SLC52A1 SLC52A2 SLC52A3
18 mental retardation, autosomal recessive 33 10.1 FLAD1 SLC52A1
19 systemic lupus erythematous, association with 6 10.1 ALS2 TARDBP
20 cogan-reese syndrome 10.1 TARDBP UBQLN2
21 polymicrogyria, bilateral temporooccipital 10.1 ALS2 TARDBP
22 cogan syndrome 10.1 ALS2 TARDBP
23 amyotrophic lateral sclerosis 10, with or without ftd 10.1 ALS2 TARDBP
24 spinal cord glioma 10.0 C9orf72 TARDBP
25 retinitis pigmentosa 46 10.0 ALS2 TARDBP
26 autism 18 10.0 ALS2 TARDBP
27 severe congenital nemaline myopathy 10.0 C9orf72 TARDBP
28 fanconi anemia, complementation group g 10.0 ALS2 SOD1
29 primary lateral sclerosis, juvenile 10.0 ALS2 SOD1
30 andersen syndrome 10.0 C9orf72 TARDBP
31 pancreatic cancer 1 10.0 FLAD1 SLC52A1
32 adult mesenchymal chondrosarcoma 9.9 C9orf72 TARDBP
33 autoimmune disease of urogenital tract 9.9 C9orf72 TARDBP
34 pancreatic cancer/melanoma syndrome 9.9 C9orf72 TARDBP UBQLN2
35 pancreatic solid pseudopapillary carcinoma 9.9 C9orf72 TARDBP UBQLN2
36 hypoproteinemia, hypercatabolic 9.9 ALS2 C9orf72 TARDBP
37 eumycotic mycetoma 9.9 C9orf72 TARDBP UBQLN2
38 mitochondrial dna depletion syndrome 3 9.9 C9orf72 TARDBP
39 osteogenesis imperfecta, type vi 9.7 C9orf72 SOD1 TARDBP
40 sting-associated vasculopathy, infantile-onset 9.7 C9orf72 SOD1 TARDBP
41 substance-induced psychosis 9.7 C9orf72 SOD1 TARDBP
42 cardiomyopathy, dilated, 1u 9.6 C9orf72 SOD1 TARDBP UBQLN2
43 stereotypic movement disorder 9.4 ALS2 C9orf72 SOD1 TARDBP UBQLN2
44 mucopolysaccharidosis iv 9.3 ALS2 C9orf72 NAIP SLC52A3 SOD1 TARDBP
45 long qt syndrome 5 9.2 ALS2 C9orf72 NAIP SOD1 TARDBP UBQLN2
46 chorioamnionitis 8.6 ALS2 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 & Phenotypes for Brown-Vialetto-Van Laere Syndrome

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


dyspnea, muscular fasciculation, stridor, clumsiness, facial paresis

Drugs & Therapeutics for Brown-Vialetto-Van Laere Syndrome

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

Genetic Tests for Brown-Vialetto-Van Laere Syndrome

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

id Genetic test Affiliating Genes
1 Brown-Vialetto-Van Laere Syndrome 29 24 SLC52A3

Anatomical Context for Brown-Vialetto-Van Laere Syndrome

Publications for Brown-Vialetto-Van Laere Syndrome

Articles related to Brown-Vialetto-Van Laere Syndrome:

(show all 46)
id Title Authors Year
1
Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. ( 27777325 )
2017
2
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. ( 26976849 )
2016
3
SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters. ( 27702554 )
2016
4
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. ( 26918385 )
2016
5
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. ( 25994385 )
2015
6
Brown-Vialetto-Van Laere syndrome: a 28-year follow-up. ( 26443808 )
2015
7
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. ( 25462087 )
2015
8
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. ( 26444347 )
2015
9
Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features. ( 24206674 )
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
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. ( 24470831 )
2013
12
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. ( 23688382 )
2013
13
Brown-Vialetto-Van Laere syndrome: Cinical and neuroradiological findings of a genetically proven patient. ( 24079556 )
2013
14
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. ( 23750839 )
2013
15
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. ( 22786578 )
2012
16
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. ( 22098162 )
2012
17
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. ( 22718020 )
2012
18
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. ( 22864630 )
2012
19
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. ( 22633641 )
2012
20
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. ( 22772932 )
2012
21
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. ( 22211384 )
2012
22
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. ( 22766032 )
2012
23
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. ( 20955635 )
2011
24
Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report. ( 21055769 )
2011
25
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. ( 24250848 )
2011
26
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. ( 20206331 )
2010
27
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. ( 20001484 )
2010
28
Exome sequencing in Brown-Vialetto-van Laere syndrome. ( 20920669 )
2010
29
Anesthesia in Brown-Vialetto-Van Laere syndrome. ( 19807888 )
2009
30
Brown-Vialetto-Van Laere syndrome. ( 18416855 )
2008
31
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. ( 17420823 )
2007
32
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. ( 17669429 )
2007
33
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
34
Cardiac arrest in a patient with Brown-Vialetto-Van Laere syndrome. ( 16963409 )
2006
35
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome. ( 16009552 )
2005
36
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. ( 16122634 )
2005
37
Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology. ( 15992475 )
2005
38
Brown-Vialetto-van Laere syndrome; the first Turkish case. ( 15508264 )
2004
39
Mental retardation associated with Brown-Vialetto-Van Laere syndrome. ( 12745620 )
2003
40
Brown-Vialetto-Van Laere syndrome: case report and literature review. ( 11465021 )
2000
41
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? ( 10797435 )
2000
42
The Brown-Vialetto-van Laere syndrome: a case report and literature review. ( 24283429 )
1994
43
Brown-Vialetto-Van Laere syndrome. ( 8474605 )
1993
44
Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset. ( 1512615 )
1992
45
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. ( 2325091 )
1990
46
Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome). ( 7229669 )
1981

Variations for Brown-Vialetto-Van Laere Syndrome

Expression for Brown-Vialetto-Van Laere Syndrome

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

Pathways for Brown-Vialetto-Van Laere Syndrome

GO Terms for Brown-Vialetto-Van Laere Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.33 ALS2 NAIP SOD1
2 cytoplasmic vesicle GO:0031410 9.26 C9orf72 SOD1 UBQLN1 UBQLN2
3 autophagosome GO:0005776 8.8 C9orf72 UBQLN1 UBQLN2

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

id Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.43 C9orf72 UBQLN1 UBQLN2
2 response to axon injury GO:0048678 9.32 NAIP SOD1
3 positive regulation of ER-associated ubiquitin-dependent protein catabolic process GO:1903071 9.16 UBQLN1 UBQLN2
4 riboflavin transport GO:0032218 9.13 SLC52A1 SLC52A2 SLC52A3
5 riboflavin metabolic process GO:0006771 8.92 FLAD1 SLC52A1 SLC52A2 SLC52A3

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

id Name GO ID Score Top Affiliating Genes
1 Rab guanyl-nucleotide exchange factor activity GO:0017112 8.96 ALS2 C9orf72
2 riboflavin transporter activity GO:0032217 8.8 SLC52A1 SLC52A2 SLC52A3

Sources for Brown-Vialetto-Van Laere Syndrome

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70 UMLS via Orphanet
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