BVVLS
MCID: BRW001
MIFTS: 32

Brown-Vialetto-Van Laere Syndrome (BVVLS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases categories
Download this MalaCard

Summaries for Brown-Vialetto-Van Laere Syndrome

About this section


Fully expand this MalaCard
NIH Rare Diseases:42 Brown-vialetto-van laere syndrome (bvvl) is a type of degenerative nerve disease. initial symptoms occur in infancy to early adulthood and progress with time. the rate of progression can vary from person to person. the syndrome is generally characterized by sensorineural deafness, paralysis of the cranial nerves, and lower and upper motor neuron disease. signs and symptoms may include vocal cord paralysis, drooping eyelids, facial weakness, slurred speech, difficulty swallowing, diminishing eye sight, neck and shoulder weakness, weakness in the arms and legs, autonomic dysfunction, and difficulty breathing. the cause of the syndrome is currently unknown and treatment is supportive. both genetic and sporadic cases have been reported in the medical literature. last updated: 3/23/2010

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 1 and brown-vialetto-van laere syndrome 2. An important gene associated with Brown-Vialetto-Van Laere Syndrome is SLC52A3 (solute carrier family 52 (riboflavin transporter), member 3), and among its related pathways is Protein processing in endoplasmic reticulum. Affiliated tissues include eye.

Genetics Home Reference:21 Brown-Vialetto-Van Laere syndrome (BVVLS) is a disorder characterized by nerve problems, particularly hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss). The age at which this condition begins varies from infancy to young adulthood. When BVVLS begins in infancy, the first symptom is often breathing problems caused by nerve damage. When the condition begins in children or young adults, sensorineural hearing loss usually occurs first, followed by signs of other nerve problems.

Description from OMIM:46 211530

Aliases & Classifications for Brown-Vialetto-Van Laere Syndrome

About this section

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

Name: Brown-Vialetto-Van Laere Syndrome 8 42 20 22 21 10 62
Progressive Bulbar Palsy with Sensorineural Deafness 42 21 62
Pontobulbar Palsy with Deafness 42 21 62
 
Bvvls 42 21
Pontobulbar Palsy and Neurosensory Deafness 42
Riboflavin Transporter Deficiency 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Ear diseases


External Ids:

Disease Ontology8 DOID:0050694
OMIM46 211530

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brown-vialetto-van laere syndrome 131.8SLC52A3
2brown-vialetto-van laere syndrome 210.9
3motor neuron disease10.7
4neuronitis10.7
5sleep disorder10.6
6madras motor neuron disease10.6
7mental retardation10.6
8cor pulmonale10.6

Graphical network of 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


Clinical features from OMIM:

211530

Drugs & Therapeutics for Brown-Vialetto-Van Laere Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Brown-Vialetto-Van Laere Syndrome

Search 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 Syndrome20 22 SLC52A3

Anatomical Context for Brown-Vialetto-Van Laere Syndrome

About this section

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

32
Eye

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

About this section

Publications for Brown-Vialetto-Van Laere Syndrome

About this section

Articles related to Brown-Vialetto-Van Laere Syndrome:

(show all 37)
idTitleAuthorsYear
1
A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family. (23750839)
2013
2
Brown-Vialetto-Van Laere syndrome: clinical and neuropathologic findings with immunohistochemistry for C20orf54 in three affected patients. (23688382)
2013
3
Brown-Vialetto-van Laere syndrome: A riboflavin responsive neuronopathy of infancy with singular features. (24206674)
2013
4
Brown-Vialetto-Van Laere syndrome: Cinical and neuroradiological findings of a genetically proven patient. (24079556)
2013
5
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): A case from Northwest Iran. (24470831)
2013
6
Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. (24139842)
2013
7
Protracted disease course after deafness in a man with Brown-Vialetto-Van Laere syndrome. (22772932)
2012
8
A Commentary on 'Four novel C20ORF54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.'. (22786578)
2012
9
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene. (22633641)
2012
10
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. (22098162)
2012
11
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. (22864630)
2012
12
Association of UBQLN1 mutation with Brown-Vialetto-Van Laere syndrome but not typical ALS. (22766032)
2012
13
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients. (22718020)
2012
14
Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood. (22211384)
2012
15
Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report. (21055769)
2011
16
Four cases of brown-vialetto-van laere syndrome from Iran: Clinical and electrophysiologic findings. (24250848)
2011
17
Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome. (20955635)
2011
18
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. (20206331)
2010
19
Exome sequencing in Brown-Vialetto-van Laere syndrome. (20920669)
2010
20
Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. (20001484)
2010
21
Anesthesia in Brown-Vialetto-Van Laere syndrome. (19807888)
2009
22
Brown-Vialetto-Van Laere syndrome. (18416855)
2008
23
Severe sleep-disordered breathing in a patient with Brown-Vialetto-Van Laere syndrome: polysomnographic findings. (17669429)
2007
24
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance. (17420823)
2007
25
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
26
Clinical features and neurophysiological follow-up in a case of Brown-Vialetto-Van Laere syndrome. (16009552)
2005
27
Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology. (15992475)
2005
28
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. (16122634)
2005
29
Brown-Vialetto-van Laere syndrome; the first Turkish case. (15508264)
2004
30
Mental retardation associated with Brown-Vialetto-Van Laere syndrome. (12745620)
2003
31
Brown-Vialetto-Van Laere syndrome: case report and literature review. (11465021)
2000
32
Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? (10797435)
2000
33
The Brown-Vialetto-van Laere syndrome: a case report and literature review. (24283429)
1994
34
Brown-Vialetto-Van Laere syndrome. (8474605)
1993
35
Recovery from respiratory muscle failure in a sporadic case of Brown-Vialetto-Van Laere syndrome with unusually late onset. (1512615)
1992
36
Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. (2325091)
1990
37
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
Expression patterns in normal tissues for genes affiliated with Brown-Vialetto-Van Laere Syndrome

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

Pathways related to Brown-Vialetto-Van Laere Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1UBQLN2, UBQLN1

Compounds 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

Biological processes related to Brown-Vialetto-Van Laere Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1riboflavin transportGO:0322189.3SLC52A2, SLC52A3

Molecular functions related to Brown-Vialetto-Van Laere Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1riboflavin transporter activityGO:0322179.3SLC52A2, SLC52A3

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Brown-Vialetto-Van Laere Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet