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Indifference to pain, congenital, autosomal recessive; CIP

Disease ID:491
Name:Indifference to pain, congenital, autosomal recessive; CIP
Associated with:1 target
Channelopathy-associated congenital insensitivity to pain
Database Links
OMIM: 243000
Orphanet: ORPHA88642


Role:  Mutations in Nav lead to an insensitivity to pain (without peripheral nerve pathology).
References:  1-2
Mutations:  Nav1.7 is associated with 7 mutation. Click here for details


No ligand related data available for Indifference to pain, congenital, autosomal recessive; CIP


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1. Cox JJ, Reimann F, Nicholas AK, Thornton G, Roberts E, Springell K, Karbani G, Jafri H, Mannan J, Raashid Y et al.. (2006) An SCN9A channelopathy causes congenital inability to experience pain. Nature, 444 (7121): 894-8. [PMID:17167479]

2. Goldberg YP, MacFarlane J, MacDonald ML, Thompson J, Dube MP, Mattice M, Fraser R, Young C, Hossain S, Pape T, Payne B, Radomski C, Donaldson G, Ives E, Cox J, Younghusband HB, Green R, Duff A, Boltshauser E, Grinspan GA, Dimon JH, Sibley BG, Andria G, Toscano E, Kerdraon J, Bowsher D, Pimstone SN, Samuels ME, Sherrington R, Hayden MR. (2007) Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Clin Genet, 71 (4): 311-9. [PMID:17470132]

3. Staud R, Price DD, Janicke D, Andrade E, Hadjipanayis AG, Eaton WT, Kaplan L, Wallace MR. (2011) Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain. Eur J Pain, 15 (3): 223-30. [PMID:20692858]