BVVLS
MCID: BRW001
MIFTS: 30

Brown-Vialetto-Van Laere Syndrome (BVVLS) 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 24 27 13 68
Progressive Bulbar Palsy with Sensorineural Deafness 24
 
Pontobulbar Palsy with Deafness 24
Bvvls 24

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 are Metabolism of water-soluble vitamins and cofactors and 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 46)
idRelated DiseaseScoreTop Affiliating Genes
1brown-vialetto-van laere syndrome 212.8
2brown-vialetto-van laere syndrome 112.8
3riboflavin transporter deficiency neuronopathy11.6
4riboflavin transporter deficiency11.6
5neuronitis10.5
6fazio-londe disease10.4
7motor neuron disease10.4
8neuropathy10.4
9auditory neuropathy10.4
10cardiac arrest10.3
11sleep disorder10.3
12madras motor neuron disease10.3
13sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria10.3SLC52A2, SLC52A3
14ring chromosome 1210.3SLC52A2, SLC52A3
15peripheral scars of retina10.3SLC52A2, SLC52A3
16breast intraductal proliferative lesion10.2SLC52A2, SLC52A3
17malignant cylindroma10.2SLC52A1, SLC52A2, SLC52A3
18mental retardation, autosomal recessive 3310.1FLAD1, SLC52A1
19systemic lupus erythematous, association with 610.1ALS2, TARDBP
20cogan-reese syndrome10.1TARDBP, UBQLN2
21polymicrogyria, bilateral temporooccipital10.1ALS2, TARDBP
22cogan syndrome10.1ALS2, TARDBP
23amyotrophic lateral sclerosis 10, with or without ftd10.1ALS2, TARDBP
24spinal cord glioma10.0C9orf72, TARDBP
25retinitis pigmentosa 4610.0ALS2, TARDBP
26autism 1810.0ALS2, TARDBP
27severe congenital nemaline myopathy10.0C9orf72, TARDBP
28fanconi anemia, complementation group g10.0ALS2, SOD1
29primary lateral sclerosis, juvenile10.0ALS2, SOD1
30andersen syndrome10.0C9orf72, TARDBP
31pancreatic cancer 110.0FLAD1, SLC52A1
32adult mesenchymal chondrosarcoma9.9C9orf72, TARDBP
33autoimmune disease of urogenital tract9.9C9orf72, TARDBP
34pancreatic cancer/melanoma syndrome9.9C9orf72, TARDBP, UBQLN2
35pancreatic solid pseudopapillary carcinoma9.9C9orf72, TARDBP, UBQLN2
36hypoproteinemia, hypercatabolic9.9ALS2, C9orf72, TARDBP
37eumycotic mycetoma9.9C9orf72, TARDBP, UBQLN2
38mitochondrial dna depletion syndrome 39.9C9orf72, TARDBP
39osteogenesis imperfecta, type vi9.7C9orf72, SOD1, TARDBP
40sting-associated vasculopathy, infantile-onset9.7C9orf72, SOD1, TARDBP
41substance-induced psychosis9.7C9orf72, SOD1, TARDBP
42cardiomyopathy, dilated, 1u9.6C9orf72, SOD1, TARDBP, UBQLN2
43stereotypic movement disorder9.4ALS2, C9orf72, SOD1, TARDBP, UBQLN2
44mucopolysaccharidosis iv9.3ALS2, C9orf72, NAIP, SLC52A3, SOD1, TARDBP
45long qt syndrome 59.2ALS2, C9orf72, NAIP, SOD1, TARDBP, UBQLN2
46chorioamnionitis8.6ALS2, 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

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


dyspnea, muscular fasciculation, stridor, clumsiness, facial 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 Syndrome27 24 SLC52A3

Anatomical Context for Brown-Vialetto-Van Laere Syndrome

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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 46)
idTitleAuthorsYear
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

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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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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:00057769.8C9orf72, UBQLN1, UBQLN2
2cytoplasmic vesicleGO:00314108.9C9orf72, SOD1, UBQLN1, UBQLN2
3neuron projectionGO:00430058.7ALS2, NAIP, SOD1

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of ER-associated ubiquitin-dependent protein catabolic processGO:190307110.1UBQLN1, UBQLN2
2riboflavin transportGO:00322189.6SLC52A1, SLC52A2, SLC52A3
3autophagyGO:00069149.5C9orf72, UBQLN1, UBQLN2
4response to axon injuryGO:00486789.4NAIP, SOD1
5riboflavin metabolic processGO:00067719.2FLAD1, SLC52A1, SLC52A2, SLC52A3

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
2Rab guanyl-nucleotide exchange factor activityGO:00171129.4ALS2, C9orf72

Sources for Brown-Vialetto-Van Laere Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet