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References OMIM Gene GeneReviews HGMD HGNC
last update : 20-10-2015
Symbol HSN2C
Location 2q37.3
Name neuropathy, hereditary sensory, type IIC
Corresponding gene KIF1A
Other symbol(s) HSNII
Main clinical features
  • peripheral nerve degeneration resulting in a severe distal sensory loss
  • onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes, and also develop distal muscle weakness, primarily affecting the lower limbs
  • more severe disorder with panmodal sensory loss and additional features, including low IQ, slowed speech development, short stature, equinus deformities
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name axonal transporter of synaptic vesicles, interacting with the domain encoded by the HSN2 exon
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   truncated protein almost exclusively restricted to an alternatively spliced exon