NGF, nerve growth factor, 4803

N. diseases: 616; N. variants: 11
Disease: HSAN Type IV ×
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 		0.400 Biomarker disease BEFREE This review focuses on the clinical and neurobiological aspects of CIPA and explains that NGF-dependent neurons in the peripheral nervous system play pivotal roles in interoception and homeostasis of our body, as well as in the stress response. 29407522 2018
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE Our findings imply that the genetic variations of the nerve growth factor-tropomyosin-related kinase A pathway play an important role in congenital insensitivity to pain with anhidrosis. 25316729 2015
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE In CIPA, the lack of pain and the presence of anhidrosis (inability to sweat) are due to the absence of both NGF-dependent primary afferents and sympathetic postganglionic neurons, respectively. 24494678 2014
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE Unravelling the mechanisms that underlie the differences between HSAN IV and V could assist in better understanding NGF biology. 24494679 2014
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE We will review neuropathies and clinical presentations that result from the disruption of NGF signalling in HSAN type IV and HSAN type V and review current advances in developing anti-NGF therapy for the clinical management of pain. 23157347 2013
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE Using the pathophysiology of CIPA as a foundation, this review investigates the ways in which NGF-dependent neurons contribute to interoception, homeostasis and emotional responses and, together with the brain, immune and endocrine systems, play crucial roles in pain, itch and inflammation. 22882139 2012
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) is a rare autosomal recessive disorder caused by a defect in neurotrophic tyrosine kinase receptor and nerve growth factor, as reported in previous studies. 20647579 2010
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE Since patients with congenital insensitivity to pain with anhidrosis lack NGF-dependent unmyelinated (C-) and thinly myelinated (Aδ-) fibers, and their dermal sweat glands are without innervation, they exhibit no pain, itch, signs of neurogenic inflammation or sympathetic skin responses. 20977328 2010
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE Patients with CIPA provide us a rare opportunity to explore the developmental and physiological function of the NGF-dependent neurons in behavior, cognitive, and mental activities that are not available in animal studies. 19201660 2009
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 GeneticVariation disease BEFREE Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene, which encodes the receptor for nerve growth factor. 19089473 2009
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE We hypothesized that HSAN IV represents a natural model for impaired NGF effect on the neuroendocrine system in humans. 15695606 2005
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 GeneticVariation disease BEFREE Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene which encodes the receptor for nerve growth factor (NGF). 16138253 2005
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 GeneticVariation disease BEFREE The TrkA(mt/mt) EB-LCL derived from the CIPA patient and the TrkA(wt/mt) EB-LCL derived from the carrier with the heterozygous TrkA mutation did not show any responses to NGF on anti-apoptotic activity. 15114061 2004
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE We report a girl with clinical and neurophysiological findings consistent with a diagnosis of HSAN-V. We sequenced her TRKA gene, encoding a receptor tyrosine kinase for nerve growth factor and responsible for HSAN-IV, but we could not detect any mutation. 12210794 2002
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE In view of the fact that defects in TRKA cause CIPA, the molecular pathology of CIPA provides unique opportunities to explore critical roles of the NGF-TRKA receptor system. 12102460 2002
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 GeneticVariation disease BEFREE Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. 11159935 2001
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 GeneticVariation disease BEFREE TRKA encodes the receptor tyrosine kinase (RTK) for nerve growth factor (NGF) and is the gene responsible for CIPA. 11748840 2001
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families. 10982191 2000
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE The human TRKA gene on chromosome 1q21-q22 encodes a receptor tyrosine kinase for nerve growth factor and is responsible for an autosomal recessive genetic disorder: congenital insensitivity to pain with anhidrosis (CIPA). 11071380 2000
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease BEFREE Point mutations affecting the NTRK1/TRKA gene, encoding one of the receptors for the nerve growth factor (NGF), have been detected in congenital insensitivity to pain with anhidrosis (CIPA), a human hereditary sensory neuropathy characterized by absence of reaction to noxious stimuli and anhidrosis. 10567924 2000
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 GeneticVariation disease BEFREE Using the linkage analysis approach, we linked the disease in 9 of 10 unrelated Israeli-Bedouin families with CIPA to the TrkA gene, which encodes the receptor for nerve growth factor. 10861667 2000
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 GeneticVariation disease BEFREE Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. 10330344 1999
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.400 Biomarker disease CTD_human