MCID: BRW001
MIFTS: 31

Brown-Vialetto-Van Laere Syndrome

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 44 15 40 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0050694
KEGG 37 H01903
MeSH 44 C537111
UMLS 72 C0796274

Summaries for Brown-Vialetto-Van Laere Syndrome

KEGG : 37
Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare neurological disorder characterized by bulbar palsies and sensorineural deafness. BVVLS is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes. It has been suggested that riboflavin supplementation can ameliorate the progression of this neurodegenerative condition.

MalaCards based summary : Brown-Vialetto-Van Laere Syndrome is related to brown-vialetto-van laere syndrome 2 and progressive bulbar palsy, and has symptoms including dyspnea, clumsiness 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. Related phenotype is Dynamic nuclei (hole, folded or small irregular).

Disease Ontology : 12 An autosomal dominant disease that is characterized by progressive bulbar palsies with sensorineural deafness.

Wikipedia : 75 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 in the Brown-Vialetto-Van Laere Syndrome family:

Brown-Vialetto-Van Laere Syndrome 1 Brown-Vialetto-Van Laere Syndrome 2

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 brown-vialetto-van laere syndrome 2 35.6 SLC52A2 FBXL6
2 progressive bulbar palsy 31.4 SLC52A3 SLC52A2
3 madras motor neuron disease 31.2 SLC52A3 SLC52A2 SLC52A1
4 riboflavin deficiency 30.8 SLC52A3 SLC52A1 FLAD1
5 motor neuron disease 30.1 SOD1 NAIP C9orf72
6 lateral sclerosis 30.0 UBQLN2 SOD1 C9orf72
7 amyotrophic lateral sclerosis 1 29.1 UBQLN2 SOD1 NAIP C9orf72
8 brown-vialetto-van laere syndrome 1 13.4
9 riboflavin transporter deficiency neuronopathy 12.7
10 riboflavin transporter deficiency 12.5
11 branchiootic syndrome 1 11.2
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 11.1
13 sensorineural hearing loss 11.0
14 fazio-londe disease 11.0
15 respiratory failure 10.9
16 neuropathy 10.8
17 auditory neuropathy spectrum disorder 10.8
18 dysphagia 10.8
19 nathalie syndrome 10.7
20 3-methylglutaconic aciduria, type iii 10.7
21 ataxia and polyneuropathy, adult-onset 10.7
22 ptosis 10.7
23 multiple cranial nerve palsy 10.7
24 hypotonia 10.7
25 dowling-degos disease 1 10.5
26 retinitis pigmentosa 10.5
27 pulmonary hypertension 10.5
28 sleep apnea 10.5
29 cardiac arrest 10.5
30 neuroretinitis 10.5
31 polyneuropathy 10.5
32 toxic shock syndrome 10.5
33 status epilepticus 10.5
34 retinitis 10.5
35 cranial nerve palsy 10.5
36 axonal neuropathy 10.5
37 central sleep apnea 10.5
38 juvenile amyotrophic lateral sclerosis 10.5
39 autonomic dysfunction 10.5
40 neurometabolic disease 10.5
41 chronic apical periodontitis 10.3 SLC52A3 SLC52A2
42 multiple acyl-coa dehydrogenase deficiency 9.7 SLC52A1 FLAD1
43 amyotrophic lateral sclerosis 18 9.6 SOD1 C9orf72
44 amyotrophic lateral sclerosis 21 9.5 SOD1 C9orf72
45 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.4 UBQLN2 C9orf72
46 frontotemporal dementia 9.0 UBQLN2 SOD1 C9orf72

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, clumsiness, stridor, muscular fasciculation, facial paresis

GenomeRNAi Phenotypes related to Brown-Vialetto-Van Laere Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Dynamic nuclei (hole, folded or small irregular) GR00257-A-1 9.1 C9orf72 SLC52A1 SLC52A3 SOD1 UBQLN1 UBQLN2

Drugs & Therapeutics for Brown-Vialetto-Van Laere Syndrome

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

Cochrane evidence based reviews: 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 75)
# Title Authors PMID Year
1
A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin. 38
31064337 2019
2
Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients. 38
30553531 2019
3
Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome. 38
30332915 2019
4
Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy. 38
30420458 2018
5
Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome. 38
30937093 2018
6
The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa. 38
29961494 2018
7
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome. 38
29961509 2018
8
Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation. 38
29950502 2018
9
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family. 38
29473049 2018
10
Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency. 38
30377535 2018
11
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. 38
29053833 2017
12
Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature. 38
28116953 2017
13
Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases. 38
28475111 2017
14
Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. 38
27777325 2017
15
A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin. 38
28856173 2017
16
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. 38
27702554 2016
17
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. 38
26918385 2016
18
Riboflavin transport and metabolism in humans. 38
27271694 2016
19
Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience. 38
26973221 2016
20
Brown-Vialetto-Van Laere syndrome: a 28-year follow-up. 38
26443808 2016
21
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. 38
26976849 2016
22
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. 38
26444347 2016
23
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. 38
27148561 2015
24
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing. 38
27148562 2015
25
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. 38
25994385 2015
26
Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology. 38
25798182 2015
27
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. 38
25462087 2015
28
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. 38
24616084 2014
29
Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features. 38
24206674 2014
30
Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient. 38
24079556 2014
31
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 38
24253200 2014
32
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. 38
24139842 2013
33
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. 38
23688382 2013
34
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. 38
24470831 2013
35
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. 38
23750839 2013
36
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. 38
22766032 2012
37
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. 38
22864630 2012
38
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. 38
23107375 2012
39
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. 38
22740598 2012
40
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. 38
22718020 2012
41
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. 38
22786578 2012
42
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. 38
22772932 2012
43
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. 38
22633641 2012
44
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. 38
22211384 2012
45
Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2). 38
22273710 2012
46
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. 38
22098162 2012
47
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. 38
20955635 2011
48
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. 38
21110228 2011
49
Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report. 38
21055769 2011
50
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. 38
24250848 2011

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 UBQLN2 UBQLN1 SOD1 C9orf72
2 autophagosome GO:0005776 8.8 UBQLN2 UBQLN1 C9orf72

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 9.46 UBQLN2 UBQLN1 C9orf72 C19orf12
2 ubiquitin-dependent ERAD pathway GO:0030433 9.37 UBQLN2 UBQLN1
3 regulation of autophagosome assembly GO:2000785 9.32 UBQLN2 C9orf72
4 positive regulation of ER-associated ubiquitin-dependent protein catabolic process GO:1903071 9.26 UBQLN2 UBQLN1
5 riboflavin transport GO:0032218 9.13 SLC52A3 SLC52A2 SLC52A1
6 riboflavin metabolic process GO:0006771 8.92 SLC52A3 SLC52A2 SLC52A1 FLAD1

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

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 8.96 SLC52A2 SLC52A1
2 riboflavin transmembrane transporter activity GO:0032217 8.8 SLC52A3 SLC52A2 SLC52A1

Sources for Brown-Vialetto-Van Laere Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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