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Charcot ankle, congenital insensitivity to pain and a mutation in the SCN9A gene. 2022

Z Chen, and H Zhang, and S-M Dai
Department of Rheumatology and Immunology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai 200233, China. email: shengmingdai@163.com.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010146 Pain An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. Suffering, Physical,Ache,Pain, Burning,Pain, Crushing,Pain, Migratory,Pain, Radiating,Pain, Splitting,Aches,Burning Pain,Burning Pains,Crushing Pain,Crushing Pains,Migratory Pain,Migratory Pains,Pains, Burning,Pains, Crushing,Pains, Migratory,Pains, Radiating,Pains, Splitting,Physical Suffering,Physical Sufferings,Radiating Pain,Radiating Pains,Splitting Pain,Splitting Pains,Sufferings, Physical
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000699 Pain Insensitivity, Congenital 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) Analgesia, Congenital,Pain Indifference, Congenital,Channelopathy-Associated Insensitivity To Pain,Congenital Analgesia,Congenital Indifference to Pain,Congenital Insensitivity To Pain,Congenital Pain Indifference,Congenital Pain Insensitivity,Insensitivity To Pain, Congenital,Insensitivity, Congenital Pain,Congenital Pain Indifferences
D000842 Ankle The region of the lower limb between the FOOT and the LEG. Tarsus,Regio tarsalis,Ankles
D062556 NAV1.7 Voltage-Gated Sodium Channel A voltage-gated sodium channel subtype found widely expressed in nociceptive primary sensory neurons. Defects in the SCN9A gene, which codes for the alpha subunit of this sodium channel, are associated with several pain sensation-related disorders. Peripheral Sodium Channel 1,SCN9A Sodium Channel alpha Subunit,Type 9 Voltage-Gated Sodium Channel,Voltage-Gated Sodium Channel Type 9,Voltage-Gated Sodium Channel Type 9 Subunit alpha,NAV1.7 Voltage Gated Sodium Channel,Type 9 Voltage Gated Sodium Channel,Voltage Gated Sodium Channel Type 9,Voltage Gated Sodium Channel Type 9 Subunit alpha

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