Riboflavin Transporter Deficiency

Description

Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

Clinical Features

Top most frequent phenotypes and symptoms related to Riboflavin Transporter Deficiency

  • Intellectual disability
  • Seizures
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis
  • Visual impairment
  • Hypertension
  • Dysarthria
  • Skeletal muscle atrophy

And another 25 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Riboflavin Transporter Deficiency Is also known as sensorineural hearing loss-pontobulbar palsy syndrome, brown-vialetto-van laere syndrome.

Researches and researchers

Doctors, researchs, and experts related to Riboflavin Transporter Deficiency extracted from public data.

Riboflavin Transporter Deficiency Experts map



Current Researchs and researchers

  • — Institution: Information not provided - FR



    • Institution/s:
      — Institution: Information not provided - FR
    • Research area/topic::

      Cartography and genetic identification of genes involved in child motor neuropathies


  • LIMOGES — Pr Philippe COURATIER

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of research project - Coordinator of research network

    • Institution/s:
      — EA3174, Faculté de médecine de Limoges
      — CHU de Limoges - Hôpital Dupuytren
      — CHU de Limoges - Hôpital Dupuytren
    • Research area/topic::

      Groupe français d'étude des maladies du motoneurone



Mendelian

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Riboflavin Transporter Deficiency 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
2 %
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
11 %
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
11 %
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
2 %
Genes
100 %
Brown-Vialetto-Van Laere syndrome type 2 (sequence analysis of SLC52A2 gene).

By CGC Genetics (Portugal).

SLC52A2
Specificity
100 %
Genes
50 %
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
50 %
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
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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