MCID: BRW001
MIFTS: 35

Brown-Vialetto-Van Laere Syndrome malady

Categories: Genetic diseases (common), Ear diseases

Aliases & Classifications for Brown-Vialetto-Van Laere Syndrome

About this section

Aliases & Descriptions for Brown-Vialetto-Van Laere Syndrome:

Name: Brown-Vialetto-Van Laere Syndrome 10 22 12 24 65
Progressive Bulbar Palsy with Sensorineural Deafness 22
 
Pontobulbar Palsy with Deafness 22
Bvvls 22

Classifications:



External Ids:

Disease Ontology10 DOID:0050694
UMLS65 C0796274

Summaries for Brown-Vialetto-Van Laere Syndrome

About this section
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 diaphragmatic paresis, diaphragmatic paresis and facial paresis. An important gene associated with Brown-Vialetto-Van Laere Syndrome is SLC52A3 (Solute Carrier Family 52 Member 3). Affiliated tissues include pituitary, breast and kidney.

Related Diseases for Brown-Vialetto-Van Laere Syndrome

About this section

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 212.9
2brown-vialetto-van laere syndrome 112.8
3riboflavin transporter deficiency neuronopathy11.7
4riboflavin transporter deficiency11.7
5neuronitis10.7
6fazio-londe disease10.6
7motor neuron disease10.6
8neuropathy10.6
9auditory neuropathy10.6
10sall4-related disorders10.6SLC52A2, SLC52A3
11richards-rundle syndrome10.6SLC52A2, SLC52A3
12plummer's disease10.5SLC52A2, SLC52A3
13intrahepatic biliary papillomatosis10.5SLC52A2, SLC52A3
14cardiac arrest10.4
15sleep disorder10.4
16madras motor neuron disease10.4
17mahvash disease10.3SLC52A1, SLC52A2, SLC52A3
18juvenile pilocytic astrocytoma10.3SLC52A1, SLC52A2, SLC52A3
19amyotrophic lateral sclerosis type 1510.2TARDBP, UBQLN2
20amyotrophic lateral sclerosis type 1410.2ALS2, TARDBP
21yunis-varon syndrome10.1ALS2, TARDBP
22diabetes insipidus, neurohypophyseal10.1ALS2, TARDBP
23semmekrot haraldsson weemaes syndrome10.0C9orf72, TARDBP
24specific granule deficiency10.0ALS2, TARDBP
25oligodendroglioma9.9C9orf72, TARDBP
26basophil adenoma9.9C9orf72, TARDBP
27amyotrophic lateral sclerosis type 49.8ALS2, SOD1
28peripheral vascular disease9.7C9orf72, TARDBP
29amyotrophic lateral sclerosis 2, juvenile9.7ALS2, SOD1
30ftdals29.7C9orf72, TARDBP, UBQLN2
31tauopathy9.7C9orf72, TARDBP, UBQLN2
32mast syndrome9.6ALS2, C9orf72, TARDBP
33perry syndrome9.6C9orf72, TARDBP
34spinal muscular atrophy-29.6ALS2, NAIP
35acquired hyperkeratosis9.6C9orf72, TARDBP, UBQLN2
36encephalitozoonosis9.5SOD1, TARDBP
37amyotrophic lateral sclerosis type 109.4ALS2, SOD1, TARDBP
38retinitis pigmentosa 139.3C9orf72, SOD1, TARDBP
39neuromyotonia and axonal neuropathy, autosomal recessive9.3C9orf72, SOD1, TARDBP
40upper lip cancer9.3C9orf72, SOD1, TARDBP
41atopic dermatitis9.2C9orf72, SOD1, TARDBP
42pick disease8.9C9orf72, SOD1, TARDBP, UBQLN2
43spondylolysis8.5ALS2, C9orf72, SOD1, TARDBP, UBQLN2
44mucolipidoses8.4ALS2, C9orf72, NAIP, SOD1, TARDBP
45jervell and lange-nielsen syndrome 28.0ALS2, C9orf72, NAIP, SOD1, TARDBP, UBQLN2
46malignant pleural solitary fibrous tumor6.7ALS2, C9orf72, NAIP, SLC52A1, SLC52A2, SLC52A3

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

About this section

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


diaphragmatic paresis, facial paresis, myopathic facies, clumsiness, stridor, muscular fasciculation, dyspnea

Drugs & Therapeutics for Brown-Vialetto-Van Laere Syndrome

About this section

Interventional clinical trials:

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

Genetic Tests for Brown-Vialetto-Van Laere Syndrome

About this section

Genetic tests related to Brown-Vialetto-Van Laere Syndrome:

id Genetic test Affiliating Genes
1 Brown-Vialetto-Van Laere Syndrome22 SLC52A3

Anatomical Context for Brown-Vialetto-Van Laere Syndrome

About this section

MalaCards organs/tissues related to Brown-Vialetto-Van Laere Syndrome:

33
Pituitary, Breast, Kidney, Myeloid, Monocytes, Endothelial, T cells

Animal Models for Brown-Vialetto-Van Laere Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Brown-Vialetto-Van Laere Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Brown-Vialetto-Van Laere Syndrome

About this section

Articles related to Brown-Vialetto-Van Laere Syndrome:

(show all 44)
idTitleAuthorsYear
1
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation. (26976849)
2016
2
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency. (26918385)
2016
3
Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin. (26444347)
2015
4
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report. (25462087)
2015
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
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. (23750839)
2013
8
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. (23688382)
2013
9
Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features. (24206674)
2013
10
Brown-Vialetto-Van Laere syndrome: Cinical and neuroradiological findings of a genetically proven patient. (24079556)
2013
11
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. (24470831)
2013
12
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. (24139842)
2013
13
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. (22772932)
2012
14
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. (22786578)
2012
15
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. (22633641)
2012
16
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. (22098162)
2012
17
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. (22864630)
2012
18
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. (22766032)
2012
19
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. (22718020)
2012
20
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. (22211384)
2012
21
Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report. (21055769)
2011
22
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. (24250848)
2011
23
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. (20955635)
2011
24
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. (20206331)
2010
25
Exome sequencing in Brown-Vialetto-van Laere syndrome. (20920669)
2010
26
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. (20001484)
2010
27
Anesthesia in Brown-Vialetto-Van Laere syndrome. (19807888)
2009
28
Brown-Vialetto-Van Laere syndrome. (18416855)
2008
29
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. (17669429)
2007
30
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. (17420823)
2007
31
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
32
Cardiac arrest in a patient with Brown-Vialetto-Van Laere syndrome. (16963409)
2006
33
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome. (16009552)
2005
34
Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology. (15992475)
2005
35
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. (16122634)
2005
36
Brown-Vialetto-van Laere syndrome; the first Turkish case. (15508264)
2004
37
Mental retardation associated with Brown-Vialetto-Van Laere syndrome. (12745620)
2003
38
Brown-Vialetto-Van Laere syndrome: case report and literature review. (11465021)
2000
39
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? (10797435)
2000
40
The Brown-Vialetto-van Laere syndrome: a case report and literature review. (24283429)
1994
41
Brown-Vialetto-Van Laere syndrome. (8474605)
1993
42
Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset. (1512615)
1992
43
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. (2325091)
1990
44
Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome). (7229669)
1981

Variations for Brown-Vialetto-Van Laere Syndrome

About this section

Expression for genes affiliated with Brown-Vialetto-Van Laere Syndrome

About this section
Search GEO for disease gene expression data for Brown-Vialetto-Van Laere Syndrome.

Pathways for genes affiliated with Brown-Vialetto-Van Laere Syndrome

About this section

GO Terms for genes affiliated with Brown-Vialetto-Van Laere Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1autophagosomeGO:00057769.4C9orf72, UBQLN2

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
2regulation of macroautophagyGO:00162419.4UBQLN1, UBQLN2
3locomotory behaviorGO:00076269.2ALS2, SOD1
4negative regulation of neuron apoptotic processGO:00435249.0NAIP, SOD1

Sources for Brown-Vialetto-Van Laere Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet