Brown-vialetto-van Laere Syndrome 1; Bvvls1

Description

Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS ). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere SyndromeSee also BVVLS2 (OMIM ), caused by mutation in the SLC52A2 gene (OMIM ) on chromosome 8q.

Clinical Features

Top most frequent phenotypes and symptoms related to Brown-vialetto-van Laere Syndrome 1; Bvvls1

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis
  • Peripheral neuropathy
  • Hyperreflexia

And another 39 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Brown-vialetto-van Laere Syndrome 1; Bvvls1 Is also known as bulbar palsy, progressive, with sensorineural deafness, pontobulbar palsy with deafness.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Brown-vialetto-van Laere Syndrome 1; Bvvls1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

BCS1L, SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CLIC5, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15 , (...)

View the complete list with 89 more genes
Specificity
1 %
Genes
100 %
Fatty acid metabolism/ketogenesis disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

SLC22A5, SLC25A20, SLC52A3, ACAD9, CPT1A, CPT1B, CPT2, SLC52A2, SLC52A1, ETFA, ETFB, ETFDH, HADH, HADHA, HADHB, HMGCL, HMGCS2, ACADM, ACADVL
Specificity
6 %
Genes
100 %
Fatty acid metabolism/ketogenesis disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

SLC22A5, SLC25A20, SLC52A3, ACAD9, CPT1A, CPT1B, CPT2, SLC52A2, SLC52A1, ETFA, ETFB, ETFDH, HADH, HADHA, HADHB, HMGCL, HMGCS2, ACADM, ACADVL
Specificity
6 %
Genes
100 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

BCS1L, SIX1, SNAI2, SMPX, SOX10, SUCLA2, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, PCDH15, OSBPL2 , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Brown-Vialetto-Van Laere syndrome 1 (sequence analysis of SLC52A3 gene).

By CGC Genetics (Portugal).

SLC52A3
Specificity
100 %
Genes
100 %
Fazio-Londe disease (sequence analysis of SLC52A3 gene).

By CGC Genetics (Portugal).

SLC52A3
Specificity
100 %
Genes
100 %
Fazio-Londe disease (deletion/duplication analysis of SLC52A3 gene).

By CGC Genetics (Portugal).

SLC52A3
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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