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References OMIM Gene GeneReviews HGMD HGNC
last update : 20-10-2015
Symbol HSAN2A
Location 12p13.33
Name hereditary sensory and autonomic neuropathy, type IIA
Other name(s)
  • acroosteolysis, neurogenic
  • acroosteolysis Giaccai type
  • Morvan disease
  • neuropathy progressive sensory, of children
  • Corresponding gene WNK1
    Main clinical features
  • with impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons
  • distal and proximal sensory loss that is caused by the reduction or absence of peripheral sensory nerves
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name hereditary sensory neuropathy, type II gene
    Genotype/Phenotype correlations truncation of the HSN2 protein associated with an early childhood onset of a predominantly sensoryneuropathy, complicated by acromutilations in both upper and lower limbs