MCID: BRW001
MIFTS: 31

Brown-Vialetto-Van Laere Syndrome malady

Categories: Genetic diseases (common), Ear diseases

Aliases & Classifications for Brown-Vialetto-Van Laere Syndrome

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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

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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. An important gene associated with Brown-Vialetto-Van Laere Syndrome is SLC52A3 (Solute Carrier Family 52 Member 3). Affiliated tissues include t cells, kidney and myeloid.

Related Diseases for Brown-Vialetto-Van Laere Syndrome

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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

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Drugs & Therapeutics for Brown-Vialetto-Van Laere Syndrome

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Interventional clinical trials:

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

Genetic Tests for Brown-Vialetto-Van Laere Syndrome

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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

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

33
T cells, Kidney, Myeloid, Lung, Cortex, Breast, Monocytes

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Brown-Vialetto-Van Laere Syndrome

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Articles related to Brown-Vialetto-Van Laere Syndrome:

(show all 42)
idTitleAuthorsYear
1
U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish. (25735748)
2015
2
Local expression of complement factor I in breast cancer cells correlates with poor survival and recurrence. (25618258)
2015
3
Tuberous sclerosis presenting with acute kidney failure, pyelonephritis, and polycystic kidney disease. (25001142)
2014
4
Strategies for induction, autologous hematopoietic stem cell transplantation, consolidation, and maintenance for transplantation-eligible multiple myeloma patients. (24319224)
2013
5
Current concerns of undertreatment and overtreatment in chronic myeloid leukemia based on European LeukemiaNet 2013 recommendations. (23984805)
2013
6
Correlates of insight into different symptom dimensions in obsessive-compulsive disorder. (23376865)
2013
7
HORMAD2/CT46.2, a novel cancer/testis gene, is ectopically expressed in lung cancer tissues. (22893617)
2012
8
Correlation of integrity of cone outer segment tips line with retinal sensitivity after half-dose photodynamic therapy for chronic central serous chorioretinopathy. (22818904)
2012
9
Eosinophilic Esophagitis: update on treatment approaches. (23935283)
2012
10
No association of obesity gene FTO with body composition at the age of 6 months. The Generation R Study. (20511725)
2011
11
Knockdown of T-cell intracellular antigens triggers cell proliferation, invasion and tumour growth. (21284605)
2011
12
Effect of apolipoprotein E and butyrylcholinesterase genotypes on cognitive response to cholinesterase inhibitor treatment at different stages of Alzheimer's disease. (20644562)
2011
13
TFEB, a novel mTORC1 effector implicated in lysosome biogenesis, endocytosis and autophagy. (22101272)
2011
14
Moxifloxacin 0.5% ophthalmic solution: in bacterial conjunctivitis. (21175242)
2011
15
HBx targeting to mitochondria and ROS generation are necessary but insufficient for HBV-induced cyclooxygenase-2 expression. (19940973)
2010
16
Measurement of tumor markers in chronic hemodialysis patients. (20061692)
2010
17
Proteomic identification of putative biomarkers of radiotherapy resistance: a possible role for the 26S proteasome? (19881955)
2009
18
Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling. (19650418)
2009
19
Molecular determinants of sensitivity and conductivity of human TRPM7 to Mg2+ and Ca2+. (18719395)
2008
20
A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family. (18355452)
2008
21
Fibrous dysplasia of Sphenoid bone. (23120418)
2007
22
Verapamil blocks HERG channel by the helix residue Y652 and F656 in the S6 transmembrane domain. (17588331)
2007
23
Clinical utility of serum holotranscobalamin as a marker of cobalamin status in elderly patients with neuropsychiatric symptoms. (15259380)
2004
24
The catalase activity of Nalpha-acetyl-microperoxidase-8. (15317500)
2004
25
FLT3 mutations do not influence MDR-1 gene expression in acute myeloid leukemia. (12926083)
2003
26
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. (11897817)
2002
27
A nuclear SH3 domain-binding protein that colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. (11375989)
2001
28
Compound heterozygosity for factor V Leiden and prothrombin G20210A mutations in a child with Budd-Chiari syndrome. (11277387)
2001
29
Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives. (11668223)
2001
30
Recombinant tissue factor pathway inhibitor enhances the binding of factor Xa to human monocytes. (11372676)
2001
31
Extrusion of wheat or sorghum and/or addition of exogenous enzymes to pig diets influences the large intestinal microbiota but does not prevent development of swine dysentery following experimental challenge. (11054173)
2000
32
Adult T cell leukemia/lymphoma with lymphopenia in a Korean. (10803704)
2000
33
The zebrafish eya1 gene and its expression pattern during embryogenesis. (10370123)
1999
34
Combination treatment of interferon alpha-2b and ribavirin in comparison to interferon monotherapy in treatment of chronic hepatitis C genotype 4 patients. (10575565)
1999
35
Research directions in paroxysmal nocturnal hemoglobinuria. (10203713)
1999
36
Protein C anticoagulant system in patients with interstitial lung disease. (9620917)
1998
37
Randomised trial of albendazole and pyrantel in symptomless trichuriasis in children. (9798586)
1998
38
Differential localization of Na+/H+ exchanger isoforms (NHE1 and NHE3) in polarized epithelial cell lines. (8743940)
1996
39
The GAP-43 gene is a direct downstream target of the basic helix-loop-helix transcription factors. (8703010)
1996
40
125I]-PD151242: a selective radioligand for human ETA receptors. (8012722)
1994
41
A comparison of neurotransmitter-specific and neuropeptide-specific neuronal cell types present in the dorsal cortex in turtles with those present in the isocortex in mammals: implications for the evolution of isocortex. (1683805)
1991
42
Immunochemiluminometric and immunoradiometric determinations of intact and total immunoreactive parathyrin: performance in the differential diagnosis of hypercalcemia and hypoparathyroidism. (1993319)
1991

Variations for Brown-Vialetto-Van Laere Syndrome

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

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

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

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

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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

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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