MCID: BRW001
MIFTS: 29

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 24 26 13 67
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 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 45)
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
6scn1a-related seizure disorders10.5SLC52A2, SLC52A3
7brunoni syndrome10.5SLC52A2, SLC52A3
8solar retinopathy10.5SLC52A2, SLC52A3
9chromosome 4q32.1-q32.2 triplication syndrome10.5FLAD1, SLC52A1
10fazio-londe disease10.5
11motor neuron disease10.5
12neuropathy10.5
13auditory neuropathy10.5
14childhood pilocytic astrocytoma10.4SLC52A2, SLC52A3
15cardiac arrest10.3
16sleep disorder10.3
17madras motor neuron disease10.3
18mahvash disease10.3SLC52A1, SLC52A2, SLC52A3
19mental retardation, autosomal recessive 3310.1FLAD1, SLC52A1
20yunis-varon syndrome10.1ALS2, TARDBP
21retinitis pigmentosa 4610.0ALS2, TARDBP
22testicular seminoma10.0C9orf72, TARDBP
23childhood oligodendroglioma9.9C9orf72, TARDBP
24anti-p200 pemphigoid9.9C9orf72, TARDBP
25specific granule deficiency9.9ALS2, TARDBP
26andersen syndrome9.9C9orf72, TARDBP
27retrograde amnesia9.9C9orf72, TARDBP
28amyotrophic lateral sclerosis type 59.8ALS2, SOD1
29perry syndrome9.7C9orf72, TARDBP
30amyotrophic lateral sclerosis 2, juvenile9.7ALS2, SOD1
31balo concentric sclerosis9.7C9orf72, TARDBP, UBQLN2
32colon kaposi sarcoma9.7C9orf72, TARDBP, UBQLN2
33mast syndrome9.6ALS2, C9orf72, TARDBP
34spinal muscular atrophy-29.6ALS2, NAIP
35amyotrophic lateral sclerosis type 149.5ALS2, SOD1, TARDBP
36microsporidiosis9.5SOD1, TARDBP
37osteogenesis imperfecta, type vi9.3C9orf72, SOD1, TARDBP
38neuromyotonia and axonal neuropathy, autosomal recessive9.3C9orf72, SOD1, TARDBP
39angiomyolipoma9.3C9orf72, SOD1, TARDBP
40chronic intestinal vascular insufficiency9.3C9orf72, SOD1, TARDBP
41pick disease9.0C9orf72, SOD1, TARDBP, UBQLN2
42atrophy of prostate8.6ALS2, C9orf72, SOD1, TARDBP, UBQLN2
43mucopolysaccharidosis iii8.5ALS2, C9orf72, NAIP, SOD1, TARDBP
44long qt syndrome 58.1ALS2, C9orf72, NAIP, SOD1, TARDBP, UBQLN2
45fetal alcohol spectrum disorder6.7ALS2, 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 Syndrome26 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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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
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
3
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. (26976849)
2016
4
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. (26918385)
2016
5
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. (26444347)
2015
6
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. (25994385)
2015
7
Brown-Vialetto-Van Laere syndrome: a 28-year follow-up. (26443808)
2015
8
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. (25462087)
2015
9
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. (23750839)
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
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. (23688382)
2013
12
Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features. (24206674)
2013
13
Brown-Vialetto-Van Laere syndrome: Cinical and neuroradiological findings of a genetically proven patient. (24079556)
2013
14
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. (24470831)
2013
15
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. (22772932)
2012
16
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. (22786578)
2012
17
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. (22098162)
2012
18
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. (22718020)
2012
19
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. (22633641)
2012
20
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. (22864630)
2012
21
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. (22766032)
2012
22
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. (22211384)
2012
23
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. (24250848)
2011
24
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. (20955635)
2011
25
Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report. (21055769)
2011
26
Exome sequencing in Brown-Vialetto-van Laere syndrome. (20920669)
2010
27
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. (20206331)
2010
28
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. (20001484)
2010
29
Anesthesia in Brown-Vialetto-Van Laere syndrome. (19807888)
2009
30
Brown-Vialetto-Van Laere syndrome. (18416855)
2008
31
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. (17669429)
2007
32
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. (17420823)
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
Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology. (15992475)
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
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome. (16009552)
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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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:00057769.6C9orf72, UBQLN1, UBQLN2
2neuron projectionGO:00430058.6ALS2, 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
2positive regulation of ER-associated ubiquitin-dependent protein catabolic processGO:190307110.0UBQLN1, UBQLN2
3riboflavin transportGO:003221810.0SLC52A1, SLC52A2, SLC52A3
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet