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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

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain.
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
Nerve growth factor-mediated regulation of pain signalling and proposed new intervention strategies in clinical pain management.
McKelvey L, Shorten GD, O'Keeffe GW
J Neurochem 2013 Feb;124(3):276-89. doi: 10.1111/jnc.12093. PMID: 23157347
Treatment of congenital malformations.
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

Orthopaedic manifestations of congenital indifference to pain with anhidrosis (Hereditary Sensory and Autonomic Neuropathy type IV).
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
A single-nucleotide polymorphism in SCN9A may decrease postoperative pain sensitivity in the general population.
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
Congenital indifference to pain and deletion of chromosome 10q-: new association.
Joshi C, Dawson AJ, Sanders SR, Prasad C
J Child Neurol 2006 Feb;21(2):174-7. doi: 10.1177/08830738060210022001. PMID: 16566889
Congenital indifference to pain: long-term follow-up of two cases.
Hirsch E, Moye D, Dimon JH 3rd
South Med J 1995 Aug;88(8):851-7. doi: 10.1097/00007611-199508000-00014. PMID: 7543219
Congenital insensitivity to pain with anhydrosis. Report of a family and review of literature with reference to immune deficiency.
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

Orthopaedic manifestations of congenital indifference to pain with anhidrosis (Hereditary Sensory and Autonomic Neuropathy type IV).
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
Congenital indifference to pain: an illustrated case report and literature review.
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
Global Nav1.7 knockout mice recapitulate the phenotype of human congenital indifference to pain.
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
Imaging of peripheral nerve lesions.
Fahr LM, Sauser DD
Orthop Clin North Am 1988 Jan;19(1):27-41. PMID: 2447545
Not 'indifference to pain' but varieties of hereditary sensory and autonomic neuropathy.
Dyck PJ, Mellinger JF, Reagan TJ, Horowitz SJ, McDonald JW, Litchy WJ, Daube JR, Fealey RD, Go VL, Kao PC, Brimijoin WS, Lambert EH
Brain 1983 Jun;106 (Pt 2):373-90. doi: 10.1093/brain/106.2.373. PMID: 6189547

Therapy

Human Mendelian pain disorders: a key to discovery and validation of novel analgesics.
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
Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker.
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
Effects of ranolazine on wild-type and mutant hNav1.7 channels and on DRG neuron excitability.
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
Sodium channels and nociception: recent concepts and therapeutic opportunities.
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
Congenital indifference to pain associated with a defect in calcium metabolism.
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

Orthopaedic manifestations of congenital indifference to pain with anhidrosis (Hereditary Sensory and Autonomic Neuropathy type IV).
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
Congenital indifference to pain: an illustrated case report and literature review.
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
A single-nucleotide polymorphism in SCN9A may decrease postoperative pain sensitivity in the general population.
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
Two novel SCN9A gene heterozygous mutations may cause partial deletion of pain perception.
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
Congenital indifference to pain and deletion of chromosome 10q-: new association.
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

A single-nucleotide polymorphism in SCN9A may decrease postoperative pain sensitivity in the general population.
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
Two novel SCN9A gene heterozygous mutations may cause partial deletion of pain perception.
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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