Orphanet: Riboflavin transporter deficiency

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Riboflavin transporter deficiency

Disease definition

A rare, genetic motor neuron disease characterized by a peripheral and cranial neuropathy, neuronal loss in anterior horns and atrophy of spinal sensory tracts, causing muscle weakness, sensory loss, diaphragmatic paralysis and respiratory insufficiency, and multiple cranial nerve deficits such as sensorineural hearing loss, bulbar symptoms, and loss of vision due to optic atrophy. Depending on the transporter affected, Riboflavin transporter deficiency 2 (RFVT2) and Riboflavin transporter deficiency 3 (RFVT3) are distinguished.


Classification level: Disorder
  • Synonym(s):
    • Brown-Vialetto-van Laere syndrome
    • Sensorineural deafness-pontobulbar palsy syndrome
    • Sensorineural hearing loss-pontobulbar palsy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy, Adolescent, Adult
  • ICD-10: G12.1
  • OMIM: 211500  211530  614707
  • UMLS: C0796274
  • MeSH: C537111
  • GARD: 9993
  • MedDRA: -

Detailed information


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