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Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature

Molecular Genetics & Genomic Medicine
Background Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder caused by loss‐of‐function mutations of the NTRK1 gene, affecting the autonomic and sensory nervous system.
Jun Hee Cho, Soojin Hwang, Yoon Hae Kwak, Mi‐Sun Yum, Go Hun Seo, June‐Young Koh, Young Seok Ju, Ji‐Hee Yoon, Minji Kang, Hyo‐Sang Do, Soyoung Kim, Gu‐Hwan Kim, Hyunwoo Bae, Beom Hee Lee   +13 more
doaj   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain

Congenital insensitivity to pain is a rare human condition in which affected individuals do not experience pain throughout their lives. This study aimed to identify the molecular etiology of congenital insensitivity to pain in two Thai patients. Clinical,
Wasant, Pornswan, Thippawan Yasanga, Ohazama, Atsushi, Kantapong Kitiyamas, Teerada Daroontum, Timothy C. Cox, Piranit Kantaputra, Daroontum, Teerada, Yasanga, Thippawan, Katsushige Kawasaki, Arold, Stefan T., Tongsima, Sissades, Sathienkijkanchai, Achara, Atsushi Ohazama, Sissades Tongsima, Chumpol Ngamphiw, Kawasaki, Katsushige, Stefan T. Arold, Kaewgahya, Massupa, Ngamphiw, Chumpol, Kitiyamas, Kantapong, Panat Piyakhunakorn, Pornswan Wasant, Piyakhunakorn, Panat, Nithiwat Vatanavicharn, Vatanavicharn, Nithiwat, Massupa Kaewgahya, Achara Sathienkijkanchai, Kantaputra, Piranit, Cox, Timothy C.   +29 more
core   +1 more source

Homozygous mutations in NTRK1 gene underlie congenital insensitivity to pain with anhidrosis in Pakistani families

, 2016
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder presenting with loss of pain sensation, thermal sensation defects, and self-mutilating behavior.
Husna Zayadi
core   +1 more source

Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis

Journal of Pain Research, 2019
Ningbo Li,1 Shanna Guo,1 Qingli Wang,2 Guangyou Duan,3 Jiaoli Sun,1 Yi Liu,1 Jin Zhang,1 Cong Wang,1 Changmao Zhu,1 Jingyu Liu,4 Xianwei Zhang1 1Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and ...
Li N, Guo S, Wang Q, Duan G, Sun J, Liu Y, Zhang J, Wang C, Zhu C, Liu J, Zhang X   +10 more
doaj  

[Congenital pain insensitivity associated with the Weber-Cockayne cutaneous syndrome (3 cases)].

, 1983
[Congenital pain insensitivity associated with the Weber-Cockayne cutaneous syndrome (3 cases)]
M. L. Giovannucci, FACCHINETTI, Fabio, R. Saggini   +2 more
core  

Orthopaedic manifestations of congenital insensitivity to pain [PDF]

Journal of the Royal Society of Medicine, 2001
S, Karmani, R, Shedden, C, De Sousa
openaire   +2 more sources

Catecholamines and congenital pain insensitivity.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica, 1985
The congenital pain insensitivity syndrome is accompanied by: a) the presence of a yellow-brown pigment in the basal layer of the epidermis with the histochemical properties of melanin, b) decrease of urinary and blood concentration of dopamine and norepinephrine, c) excretion of melanin and of an abnormal as yet unidentified phenolic metabolite, d ...
I, Raw, B J, Schmidt, J, Merzel
openaire   +1 more source

Congenital insensitivity to pain

, 2017
Aneta Kecler-Pietrzyk, Rohit Sharma, Arlene Campos   +2 more
openaire   +2 more sources

Considerations in Restorative Management and New Oral Findings in a Patient With Congenital Insensitivity to Pain With Anhidrosis. [PDF]

Spec Care Dentist
Chay PL, Khor MM, Chan BH, Kwek VYX, Tan AYJ, Ling KA, Toh SL.   +6 more
europepmc   +1 more source