Disorder "Congenital Insensitivity To Pain With Hyperhidrosis"
Found 2 records
Disorder information
Disorder name:
Congenital Insensitivity To Pain With Hyperhidrosis 
Disoder ID:
Synonyms:
Congenital indifference to pain with hyperhidrosis, Congenital absence of pain with hyperhidrosis, Congenital analgesia with hyperhidrosis 
Definition:
A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Expressivity(2)  
Modifier effect:
Altered sensitivity to pain(2)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
SCN11A SCN11A:c.2432T>C(p.Leu811Pro) Expressivity  Altered sensitivity to pain  Study on animal models  Mutant displayed excessive activity at resting voltages, causing sustained depolarization of nociceptors, impaired generation of action potentials and aberrant synaptic transmission.more more
SCN11A:p.Leu799Pro Expressivity  Altered sensitivity to pain  Study on animal models  Mutant displayed excessive activity at resting voltages, causing sustained depolarization of nociceptors, impaired generation of action potentials and aberrant synaptic transmission.more more
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