MCID: BRW001
MIFTS: 28

Brown-Vialetto-Van Laere Syndrome

Categories: Genetic diseases

Aliases & Classifications for Brown-Vialetto-Van Laere Syndrome

MalaCards integrated aliases for Brown-Vialetto-Van Laere Syndrome:

Name: Brown-Vialetto-Van Laere Syndrome 12 37 29 15 40 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0050694
KEGG 37 H01903
UMLS 73 C0796274

Summaries for Brown-Vialetto-Van Laere Syndrome

MalaCards based summary : Brown-Vialetto-Van Laere Syndrome is related to brown-vialetto-van laere syndrome 2 and madras motor neuron disease, 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 Vitamin digestion and absorption and Metabolism of water-soluble vitamins and cofactors.

Wikipedia : 76 Brown-Vialetto-Van-Laere syndrome (BVVL), sometimes known as Brown\'s Syndrome, is a rare degenerative... more...

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 39)
# Related Disease Score Top Affiliating Genes
1 brown-vialetto-van laere syndrome 2 35.4 FBXL6 SLC52A2
2 madras motor neuron disease 31.1 SLC52A1 SLC52A2 SLC52A3
3 motor neuron disease 27.6 ALS2 C9orf72 NAIP SOD1 TARDBP
4 brown-vialetto-van laere syndrome 1 13.1
5 riboflavin transporter deficiency 12.1
6 riboflavin transporter deficiency neuronopathy 11.7
7 chronic apical periodontitis 10.6 SLC52A2 SLC52A3
8 neuronitis 10.6
9 progressive bulbar palsy 10.6 SLC52A2 SLC52A3
10 fazio-londe disease 10.5
11 neuropathy 10.5
12 auditory neuropathy spectrum disorder 10.5
13 aging 10.4
14 cardiac arrest 10.4
15 sleep disorder 10.4
16 riboflavin deficiency 10.2 FLAD1 SLC52A1 SLC52A3
17 amyotrophic lateral sclerosis type 14 10.1 TARDBP UBQLN2
18 amyotrophic lateral sclerosis type 6 10.1 ALS2 TARDBP
19 amyotrophic lateral sclerosis 11 10.0 ALS2 TARDBP
20 amyotrophic lateral sclerosis 7 10.0 ALS2 TARDBP
21 amyotrophic lateral sclerosis 9 10.0 ALS2 TARDBP
22 semantic dementia 9.9 C9orf72 TARDBP
23 progressive muscular atrophy 9.8 C9orf72 TARDBP
24 amyotrophic lateral sclerosis 16, juvenile 9.8 ALS2 SOD1
25 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 9.8 ALS2 TARDBP
26 multiple acyl-coa dehydrogenase deficiency 9.8 FLAD1 SLC52A1
27 amyotrophic lateral sclerosis 2, juvenile 9.7 ALS2 SOD1
28 nominal aphasia 9.7 C9orf72 TARDBP
29 basal ganglia disease 9.5 C9orf72 TARDBP UBQLN2
30 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.5 C9orf72 TARDBP UBQLN2
31 perry syndrome 9.5 C9orf72 TARDBP
32 dementia 9.2 C9orf72 TARDBP UBQLN2
33 amyotrophic lateral sclerosis 18 9.0 C9orf72 SOD1 TARDBP
34 amyotrophic lateral sclerosis 21 9.0 C9orf72 SOD1 TARDBP
35 central nervous system disease 9.0 C9orf72 SOD1 TARDBP
36 nervous system disease 9.0 C9orf72 SOD1 TARDBP
37 frontotemporal dementia 8.5 C9orf72 SOD1 TARDBP UBQLN2
38 lateral sclerosis 8.0 ALS2 C9orf72 SOD1 TARDBP UBQLN2
39 amyotrophic lateral sclerosis 1 7.4 ALS2 C9orf72 NAIP SOD1 TARDBP UBQLN2

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:

# Genetic test Affiliating Genes
1 Brown-Vialetto-Van Laere Syndrome 29

Anatomical Context for Brown-Vialetto-Van Laere Syndrome

Publications for Brown-Vialetto-Van Laere Syndrome

Articles related to Brown-Vialetto-Van Laere Syndrome:

(show top 50) (show all 51)
# Title Authors Year
1
Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation. ( 29950502 )
2018
2
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome. ( 29961509 )
2018
3
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family. ( 29473049 )
2018
4
Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature. ( 28116953 )
2017
5
A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin. ( 28856173 )
2017
6
Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. ( 27777325 )
2017
7
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
8
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. ( 26976849 )
2016
9
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. ( 26918385 )
2016
10
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. ( 25994385 )
2015
11
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. ( 25462087 )
2015
12
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. ( 26444347 )
2015
13
Brown-Vialetto-Van Laere syndrome: a 28-year follow-up. ( 26443808 )
2015
14
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. ( 23750839 )
2013
15
Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features. ( 24206674 )
2013
16
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. ( 24139842 )
2013
17
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. ( 24470831 )
2013
18
Brown-Vialetto-Van Laere syndrome: Cinical and neuroradiological findings of a genetically proven patient. ( 24079556 )
2013
19
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. ( 23688382 )
2013
20
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. ( 22772932 )
2012
21
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. ( 22718020 )
2012
22
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. ( 22766032 )
2012
23
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. ( 22864630 )
2012
24
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. ( 22098162 )
2012
25
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. ( 22786578 )
2012
26
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. ( 22633641 )
2012
27
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. ( 22211384 )
2012
28
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. ( 24250848 )
2011
29
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. ( 20955635 )
2011
30
Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report. ( 21055769 )
2011
31
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. ( 20206331 )
2010
32
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. ( 20001484 )
2010
33
Exome sequencing in Brown-Vialetto-van Laere syndrome. ( 20920669 )
2010
34
Anesthesia in Brown-Vialetto-Van Laere syndrome. ( 19807888 )
2009
35
Brown-Vialetto-Van Laere syndrome. ( 18416855 )
2008
36
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. ( 17420823 )
2007
37
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. ( 17669429 )
2007
38
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
39
Cardiac arrest in a patient with Brown-Vialetto-Van Laere syndrome. ( 16963409 )
2006
40
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome. ( 16009552 )
2005
41
Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology. ( 15992475 )
2005
42
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. ( 16122634 )
2005
43
Brown-Vialetto-van Laere syndrome; the first Turkish case. ( 15508264 )
2004
44
Mental retardation associated with Brown-Vialetto-Van Laere syndrome. ( 12745620 )
2003
45
Brown-Vialetto-Van Laere syndrome: case report and literature review. ( 11465021 )
2000
46
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? ( 10797435 )
2000
47
The Brown-Vialetto-van Laere syndrome: a case report and literature review. ( 24283429 )
1994
48
Brown-Vialetto-Van Laere syndrome. ( 8474605 )
1993
49
Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset. ( 1512615 )
1992
50
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. ( 2325091 )
1990

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

Pathways related to Brown-Vialetto-Van Laere Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Vitamin digestion and absorption hsa04977

GO Terms for Brown-Vialetto-Van Laere Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.26 C9orf72 SOD1 UBQLN1 UBQLN2
2 autophagosome GO:0005776 8.8 C9orf72 UBQLN1 UBQLN2

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

# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.5 C9orf72 UBQLN1 UBQLN2
2 response to axon injury GO:0048678 9.37 NAIP SOD1
3 regulation of autophagosome assembly GO:2000785 9.26 C9orf72 UBQLN2
4 positive regulation of ER-associated ubiquitin-dependent protein catabolic process GO:1903071 9.16 UBQLN1 UBQLN2
5 riboflavin transport GO:0032218 9.13 SLC52A1 SLC52A2 SLC52A3
6 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:

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

Sources for Brown-Vialetto-Van Laere Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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