Congenital insensitivity to pain

Causes

What gene is involved in congenital insensitivity to pain?

Congenital insensitivity to pain is most commonly caused by abnormal changes (mutations) in the SCN9A gene and PRDM12 gene. There are other genes that are associated with insensitivity to pain. The genes and possible symptoms include the following.

  1. CLTCL1 gene mutations found in one family and also associated with severe learning disability.
  2. NGF gene mutations may cause intellectual disability, inability to sweat (anhidrosis), early aging.
  3. NTRK1 gene mutations may cause eye problems with the cornea (clear covering over the front of the eye), intellectual disability, tendency to get infections, problems with joints, skin problems.
  4. SCN11A gene mutations may cause delayed motor (movement) development, muscle weakness, abnormal joint movement, problems with the digestive system or itchy skin (pruritis).

http://www.omim.org/entry/243000

http://www.omim.org/entry/616458

Schon et. al, GeneReviews Congenital Insensitivity to Pain Overview, February 8, 2018 https://www.ncbi.nlm.nih.gov/books/NBK481553/

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