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:
2
Gene:
1
Variant:
2
Reference:
1
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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