Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease UNIPROT Here, we studied a cohort of seven patients with HSAN IV and describe a comprehensive functional analysis of seven novel NTRK1 missense mutations, c.1550G >A, c.1565G >A, c.1970T >C, c.2096T >C, c.2254T >A, c.2288G >C, and c.2311C >T, corresponding to p.G517E, p.G522E, p.L657P, p.I699T, p.C752S, p.C763S, and p.R771C, all of which were predicted pathogenic by in silico analysis. 27676246 2017
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal-recessive disease caused by mutations in the NTRK1 gene. 22957891 2014
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE Genetic analysis of her TRKA gene, which is responsible for HSAN IV, revealed two novel missense mutations in the tyrosine kinase domain. 15534759 2004
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease UNIPROT Two new mutations in the tyrosine kinase domain of the TrkA gene were identified in our CIPA patients: a 1926-ins-T in most of the southern Israeli-Negev CIPA patients, and a Pro- 689-Leu mutation in a different isolate of Bedouins in northern Israel. 10861667 2000
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family. 27772781 2016
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease UNIPROT Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation. 10233776 1999
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. 22653642 2012
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE We report the clinical course of a 7-year-old girl with CIPA and proven NTRK1 mutation. 19089473 2009
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report. 25984678 2015
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease UNIPROT Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype. 28328124 2017
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype. 28328124 2017
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE In fact, receptor rearrangements or point mutations convert RET and NTRK1 in dominantly acting transforming genes leading to thyroid tumors, whereas inactivating mutations, associated with Hirschsprung's disease (HSCR) and congenital insensitivity to pain with anhidrosis (CIPA), impair RET and NTRK1 functions, respectively. 12652644 2003
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE Two new mutations in the tyrosine kinase domain of the TrkA gene were identified in our CIPA patients: a 1926-ins-T in most of the southern Israeli-Negev CIPA patients, and a Pro- 689-Leu mutation in a different isolate of Bedouins in northern Israel. 10861667 2000
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE This study extends the spectrum of NTRK1 mutations observed in patients with a diagnosis of CIPA and is the first to propose that congenital loss of permanent teeth may occur in CIPA patients. 30075136 2018
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE We present detailed description of a rare, mild HSAN4 phenotype associated with two novel NTRK1 mutations. 18657423 2008
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE Recently, three mutations in the tyrosine kinase domain of TRKA have been reported in patients with congenital insensitivity to pain with anhidrosis, which is an autosomal recessive disorder characterized by recurrent fever due to absence of sweating, no reaction to noxious stimuli, self-mutilating behavior, and mental retardation. 10233776 1999
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease UNIPROT The four novel NTRK1 mutations we report here will expand the repertoire of NTRK1 mutations in CIPA patients, and further our understanding of CIPA pathogenesis. 28177573 2017
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE We report the results of the NTRK1 sequence analysis in a CIPA family from Poland. 11139246 2001
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE The four novel NTRK1 mutations we report here will expand the repertoire of NTRK1 mutations in CIPA patients, and further our understanding of CIPA pathogenesis. 28177573 2017
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE This report broadens the spectrum of mutations in NTRK1 that cause HSAN IV and demonstrates a founder mutation in the Turkish population. 18322713 2008
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease UNIPROT A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. 10090906 1999
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease UNIPROT Our results demonstrate clearly that the CIPA mutations cause the inactivation of the NTRK1 receptor, thus exerting a loss of function effect, and provide an experimental approach to distinguish functional mutations from genetic polymorphisms. 10567924 2000
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder caused by loss-of-function mutations in NTRK1, the gene encoding a receptor tyrosine kinase for NGF, TrkA. 24494678 2014
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 GeneticVariation disease BEFREE The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation. 18077166 2008