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GENATLAS PHENOTYPE
last update : 27-04-2011
Symbol CIEP
Location 2q24.3
Name congenital inability to experience pain/anosmia
Corresponding gene SCN9A
Main clinical features
  • congenital indifference to pain or congenital analgesia , must be distinguished from congenital 'insensitivity' to pain, which is associated with pathologic changes in peripheral nerves
  • human patients with loss-of-function mutations in SCN9A and show that they are unable to sense odours. PMID:21441906
  • including neuropathy, hereditary sensory and autonomic, type IID, congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name encoding the voltage-gated sodium channel Na(v)1.7
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function cause loss of function of SCN9A
    Remark(s) Nonsense mutations cause a complete absence of pain (Reimann 2010)