Brown-vialetto-van Laere Syndrome 2; Bvvls2

Description

Brown-Vialetto-Van Laere syndrome-2 is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014).For discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Brown-vialetto-van Laere Syndrome 2; Bvvls2

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy

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.

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 2; Bvvls2 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 type 2 (sequence analysis of SLC52A2 gene).

By CGC Genetics (Portugal).

SLC52A2
Specificity
100 %
Genes
100 %
Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy with or without Sensorineural Deafness) via SLC52A2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC52A2
Specificity
100 %
Genes
100 %
Neuropathy.

By MGZ Medical Genetics Center (Germany).

SACS, SCN10A, SCN11A, SCN9A, SH3BP4, SLC12A6, SOD1, SPG11, ATL1, SPAST, SPTLC1, SPTLC2, SQSTM1, SURF1, TARDBP, TFG, TNNT2, TTR, UBQLN2, VAPB , (...)

View the complete list with 101 more genes
Specificity
1 %
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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