MCID: BRW001
MIFTS: 32

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 38 30 45 15 41 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0050694
KEGG 38 H01903
MeSH 45 C537111
UMLS 74 C0796274

Summaries for Brown-Vialetto-Van Laere Syndrome

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

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, 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).

Wikipedia : 77 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

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:

27
# 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 30

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 55)
# Title Authors Year
1
Cochlear implantation in children with auditory neuropathy: Lessons from Brown-Vialetto-Van Laere syndrome. ( 30332915 )
2019
2
A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin. ( 31064337 )
2019
3
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family. ( 29473049 )
2018
4
Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation. ( 29950502 )
2018
5
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome. ( 29961509 )
2018
6
Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy. ( 30420458 )
2018
7
Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome. ( 30937093 )
2018
8
Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. ( 27777325 )
2017
9
Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature. ( 28116953 )
2017
10
A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin. ( 28856173 )
2017
11
Brown-Vialetto-Van Laere syndrome: a 28-year follow-up. ( 26443808 )
2016
12
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. ( 26444347 )
2016
13
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. ( 26918385 )
2016
14
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. ( 26976849 )
2016
15
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
16
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation. ( 25994385 )
2015
17
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. ( 25462087 )
2015
18
Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient. ( 24079556 )
2014
19
Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features. ( 24206674 )
2014
20
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. ( 23688382 )
2013
21
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. ( 23750839 )
2013
22
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. ( 24139842 )
2013
23
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. ( 24470831 )
2013
24
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. ( 22098162 )
2012
25
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. ( 22211384 )
2012
26
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. ( 22633641 )
2012
27
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. ( 22718020 )
2012
28
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. ( 22766032 )
2012
29
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. ( 22772932 )
2012
30
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. ( 22786578 )
2012
31
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. ( 22864630 )
2012
32
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. ( 20955635 )
2011
33
Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report. ( 21055769 )
2011
34
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. ( 24250848 )
2011
35
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. ( 20001484 )
2010
36
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. ( 20206331 )
2010
37
Exome sequencing in Brown-Vialetto-van Laere syndrome. ( 20920669 )
2010
38
Anesthesia in Brown-Vialetto-Van Laere syndrome. ( 19807888 )
2009
39
Brown-Vialetto-Van Laere syndrome. ( 18416855 )
2008
40
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. ( 17420823 )
2007
41
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. ( 17669429 )
2007
42
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
43
Cardiac arrest in a patient with Brown-Vialetto-Van Laere syndrome. ( 16963409 )
2006
44
Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology. ( 15992475 )
2005
45
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome. ( 16009552 )
2005
46
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. ( 16122634 )
2005
47
Brown-Vialetto-van Laere syndrome; the first Turkish case. ( 15508264 )
2004
48
Mental retardation associated with Brown-Vialetto-Van Laere syndrome. ( 12745620 )
2003
49
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? ( 10797435 )
2000
50
Brown-Vialetto-Van Laere syndrome: case report and literature review. ( 11465021 )
2000

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:

38
# 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 9.46 C19orf12 C9orf72 UBQLN1 UBQLN2
2 ubiquitin-dependent ERAD pathway GO:0030433 9.37 UBQLN1 UBQLN2
3 regulation of autophagosome assembly GO:2000785 9.32 C9orf72 UBQLN2
4 positive regulation of ER-associated ubiquitin-dependent protein catabolic process GO:1903071 9.26 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 virus receptor activity GO:0001618 8.96 SLC52A1 SLC52A2
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....