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Congenital Indifference to Pain

MedGen UID:
1899
Concept ID:
C0002768
Disease or Syndrome
Synonyms: Analgesia, Congenital; Channelopathy-Associated Insensitivity To Pain; Congenital Analgesia; Congenital Insensitivity To Pain; Congenital Pain Indifference; Congenital Pain Indifferences; Congenital Pain Insensitivity; Insensitivity To Pain, Congenital; Insensitivity, Congenital Pain; Pain Indifference, Congenital; Pain Insensitivity, Congenital
SNOMED CT: Congenital indifference to pain (403605007); Congenital pain asymbolia (403605007); Asymbolia (403605007)

Definition

A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343) [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Congenital Indifference to Pain

Professional guidelines

PubMed

Zhang S, Malik Sharif S, Chen YC, Valente EM, Ahmed M, Sheridan E, Bennett C, Woods G
J Med Genet 2016 Aug;53(8):533-5. Epub 2016 Mar 14 doi: 10.1136/jmedgenet-2015-103646. PMID: 26975306Free PMC Article
McKelvey L, Shorten GD, O'Keeffe GW
J Neurochem 2013 Feb;124(3):276-89. doi: 10.1111/jnc.12093. PMID: 23157347
Brucker SY, Rall K, Campo R, Oppelt P, Isaacson K
Semin Reprod Med 2011 Mar;29(2):101-12. Epub 2011 Mar 24 doi: 10.1055/s-0031-1272472. PMID: 21437824

Recent clinical studies

Etiology

Kayani B, Sewell MD, Platinum J, Olivier A, Briggs TWR, Eastwood DM
Eur J Paediatr Neurol 2017 Mar;21(2):318-326. Epub 2016 Sep 6 doi: 10.1016/j.ejpn.2016.08.009. PMID: 27637569
Duan G, Xiang G, Zhang X, Yuan R, Zhan H, Qi D
Anesthesiology 2013 Feb;118(2):436-42. doi: 10.1097/ALN.0b013e31827dde74. PMID: 23364568
Joshi C, Dawson AJ, Sanders SR, Prasad C
J Child Neurol 2006 Feb;21(2):174-7. doi: 10.1177/08830738060210022001. PMID: 16566889
Hirsch E, Moye D, Dimon JH 3rd
South Med J 1995 Aug;88(8):851-7. doi: 10.1097/00007611-199508000-00014. PMID: 7543219
Vardy PA, Greenberg LW, Kachel C, de Leon GF
Am J Dis Child 1979 Nov;133(11):1153-5. doi: 10.1001/archpedi.1979.02130110061011. PMID: 92193

Diagnosis

Kayani B, Sewell MD, Platinum J, Olivier A, Briggs TWR, Eastwood DM
Eur J Paediatr Neurol 2017 Mar;21(2):318-326. Epub 2016 Sep 6 doi: 10.1016/j.ejpn.2016.08.009. PMID: 27637569
Golshani AE, Kamdar AA, Spence SC, Beckmann NM
J Radiol Case Rep 2014 Aug;8(8):16-23. Epub 2014 Aug 31 doi: 10.3941/jrcr.v8i8.2194. PMID: 25426241Free PMC Article
Gingras J, Smith S, Matson DJ, Johnson D, Nye K, Couture L, Feric E, Yin R, Moyer BD, Peterson ML, Rottman JB, Beiler RJ, Malmberg AB, McDonough SI
PLoS One 2014;9(9):e105895. Epub 2014 Sep 4 doi: 10.1371/journal.pone.0105895. PMID: 25188265Free PMC Article
Biswal N, Sundaram VM, Mathai B, Balasubramanian S
Indian J Pediatr 1998 Sep-Oct;65(5):755-7. doi: 10.1007/BF02731060. PMID: 10773933
Fahr LM, Sauser DD
Orthop Clin North Am 1988 Jan;19(1):27-41. PMID: 2447545

Therapy

Goldberg YP, Pimstone SN, Namdari R, Price N, Cohen C, Sherrington RP, Hayden MR
Clin Genet 2012 Oct;82(4):367-73. Epub 2012 Aug 13 doi: 10.1111/j.1399-0004.2012.01942.x. PMID: 22845492
Goldberg YP, Price N, Namdari R, Cohen CJ, Lamers MH, Winters C, Price J, Young CE, Verschoof H, Sherrington R, Pimstone SN, Hayden MR
Pain 2012 Jan;153(1):80-85. Epub 2011 Oct 28 doi: 10.1016/j.pain.2011.09.008. PMID: 22035805
Estacion M, Waxman SG, Dib-Hajj SD
Mol Pain 2010 Jun 8;6:35. doi: 10.1186/1744-8069-6-35. PMID: 20529343Free PMC Article
Krafte DS, Bannon AW
Curr Opin Pharmacol 2008 Feb;8(1):50-6. Epub 2007 Oct 26 doi: 10.1016/j.coph.2007.09.007. PMID: 17964852
Haaxma R, Korver MF, Willemse J
Acta Neurol Scand 1971;47(2):194-208. doi: 10.1111/j.1600-0404.1971.tb07476.x. PMID: 4105312

Prognosis

Kayani B, Sewell MD, Platinum J, Olivier A, Briggs TWR, Eastwood DM
Eur J Paediatr Neurol 2017 Mar;21(2):318-326. Epub 2016 Sep 6 doi: 10.1016/j.ejpn.2016.08.009. PMID: 27637569
Golshani AE, Kamdar AA, Spence SC, Beckmann NM
J Radiol Case Rep 2014 Aug;8(8):16-23. Epub 2014 Aug 31 doi: 10.3941/jrcr.v8i8.2194. PMID: 25426241Free PMC Article
Duan G, Xiang G, Zhang X, Yuan R, Zhan H, Qi D
Anesthesiology 2013 Feb;118(2):436-42. doi: 10.1097/ALN.0b013e31827dde74. PMID: 23364568
Yuan R, Zhang X, Deng Q, Si D, Wu Y, Gao F, Zhou B
Pain Med 2011 Oct;12(10):1510-4. Epub 2011 Sep 21 doi: 10.1111/j.1526-4637.2011.01237.x. PMID: 21939494
Joshi C, Dawson AJ, Sanders SR, Prasad C
J Child Neurol 2006 Feb;21(2):174-7. doi: 10.1177/08830738060210022001. PMID: 16566889

Clinical prediction guides

Duan G, Xiang G, Zhang X, Yuan R, Zhan H, Qi D
Anesthesiology 2013 Feb;118(2):436-42. doi: 10.1097/ALN.0b013e31827dde74. PMID: 23364568
Yuan R, Zhang X, Deng Q, Si D, Wu Y, Gao F, Zhou B
Pain Med 2011 Oct;12(10):1510-4. Epub 2011 Sep 21 doi: 10.1111/j.1526-4637.2011.01237.x. PMID: 21939494

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