BVVLS
MCID: BRW001
MIFTS: 21

Brown-Vialetto-Van Laere Syndrome (BVVLS) malady

Neuronal, Ear categories

Summaries for Brown-Vialetto-Van Laere Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Brown-Vialetto-Van Laere Syndrome, also known as progressive bulbar palsy with sensorineural deafness, is related to brown syndrome and n syndrome. 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.

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:47 211530

Aliases & Classifications for Brown-Vialetto-Van Laere Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 61UMLS, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Ear


Aliases & Descriptions:

brown-vialetto-van laere syndrome 8 43 20 22 21 10 61
progressive bulbar palsy with sensorineural deafness 21
pontobulbar palsy and neurosensory deafness 43
pontobulbar palsy with deafness 21
bvvls 21


External Ids:

Disease Ontology8 DOID:0050694
OMIM47 211530

Related Diseases for Brown-Vialetto-Van Laere Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Brown-Vialetto-Van Laere Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brown syndrome11.3
2n syndrome11.0
3brown-vialetto-van laere syndrome 110.9
4fazio londe syndrome10.7
5brown-vialetto-van laere syndrome 210.7
6sleep disorder10.5
7madras motor neuron disease10.5
8mental retardation10.5
9motor neuron disease10.0NAIP
10amyotrophic lateral sclerosis10.0NAIP, UBQLN2

Graphical network of diseases related to Brown-Vialetto-Van Laere Syndrome:



Diseases related to brown-vialetto-van laere syndrome

Clinical Features for Brown-Vialetto-Van Laere Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

211530

Drugs & Therapeutics for Brown-Vialetto-Van Laere Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Brown-Vialetto-Van Laere Syndrome

Genetic Tests for Brown-Vialetto-Van Laere Syndrome

Sources:
20GeneTests, 22GTR
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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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Brown-Vialetto-Van Laere Syndrome

Genetic Variations for Brown-Vialetto-Van Laere Syndrome

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
30KEGG
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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

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

Sources:
16Gene Ontology
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Biological processes related to Brown-Vialetto-Van Laere Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1riboflavin transportGO:0322189.3SLC52A3, SLC52A2
2execution phase of apoptosisGO:0971949.1MADD, UBQLN1

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

idNameGO IDScoreTop Affiliating Genes
1riboflavin transporter activityGO:0322179.6SLC52A3, SLC52A2

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brown-Vialetto-Van Laere Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet