KEGG DISEASE: Congenital insensitivity to pain

DISEASE: Congenital insensitivity to pain

Entry

H00774                      Disease

Name

Congenital insensitivity to pain

Subgroup

Marsili syndrome

Description

Congenital insensitivity to pain (CIP) is condition affecting pain sensation and olfaction. A loss-of-function of the SCN9A, the gene encoding Nav1.7, can produce CIP. Patients with Nav1.7-related CIP present with a history of not ever experiencing any pain even after burns, bone fractures, lip- and tongue-biting, and they do not experience visceral pain. Additionally, patients with Nav1.7-related CIP do not show apparent sympathetic dysfunction and have a normal axon reflex response to histamine. Homozygous and compound null mutations in SCN9A are predicted to truncate the channel protein, resulting in loss-of-function mutations in Nav1.7 and the complete loss of Nav1.7 current in all of the neurons in which this channel is expressed. Marsili syndrome(MARSIS) is an autosomal dominant congenital insensitivity to pain, caused by mutations in ZFHX2 gene.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Disorders of nerve root, plexus or peripheral nerves
   Hereditary neuropathy
    8C21  Hereditary sensory or autonomic neuropathy
     H00774  Congenital insensitivity to pain

Gene

(CIP) SCN9A [HSA:6335] [KO:K04841]
(MARSIS) ZFHX2 [HSA:85446] [KO:K09379]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:19005038

Authors

Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D

Title

Inherited neuronal ion channelopathies: new windows on complex neurological diseases.

Journal

J Neurosci 28:11768-77 (2008)
DOI:10.1523/JNEUROSCI.3901-08.2008

Reference

PMID:19185186

Authors

Dib-Hajj SD, Yang Y, Waxman SG

Title

Genetics and molecular pathophysiology of Na(v)1.7-related pain syndromes.

Journal

Adv Genet 63:85-110 (2008)
DOI:10.1016/S0065-2660(08)01004-3

Reference

PMID:20146699

Authors

Fischer TZ, Waxman SG

Title

Familial pain syndromes from mutations of the NaV1.7 sodium channel.

Journal

Ann N Y Acad Sci 1184:196-207 (2010)
DOI:10.1111/j.1749-6632.2009.05110.x

Reference

PMID:29253101 (MARSIS)

Authors

Habib AM, Matsuyama A, Okorokov AL, Santana-Varela S, Bras JT, Aloisi AM, Emery EC, Bogdanov YD, Follenfant M, Gossage SJ, Gras M, Humphrey J, Kolesnikov A, Le Cann K, Li S, Minett MS, Pereira V, Ponsolles C, Sikandar S, Torres JM, Yamaoka K, Zhao J, Komine Y, Yamamori T, Maniatis N, Panov KI, Houlden H, Ramirez JD, Bennett DLH, Marsili L, Bachiocco V, Wood JN, Cox JJ

Title

A novel human pain insensitivity disorder caused by a point mutation in ZFHX2.

Journal

Brain 141:365-376 (2018)
DOI:10.1093/brain/awx326

» Japanese version

All links

Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (4)   
   PubMed (4)   
All databases (10)   

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