NGF, nerve growth factor, 4803

N. diseases: 616; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GeneticVariation disease BEFREE A point mutation (R100W) in the NGFB gene was found in patients with Hereditary Sensory and Autonomic Neuropathy type V (HSAN V), which leads to pain insensitivity. 30612733 2019
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 Biomarker disease BEFREE To prevent the NGF pain-inducing collateral effects, thus avoiding the necessity for local brain injection, we developed painless NGF (hNGFp), based on the human genetic disease Hereditary Sensory and Autonomic Neuropathy type V (HSAN V). hNGFp has similar neurotrophic activity as wild type human NGF, but its pain sensitizing activity is tenfold lower. 30391352 2019
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GeneticVariation disease BEFREE The physiological function of NGF as a pain mediator is altered in patients with Hereditary Sensory and Autonomic Neuropathy type V (HSAN V), caused by the 661C>T transition in the <i>Ngf</i> gene, resulting in the R100W missense mutation in mature NGF. 31685654 2019
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GeneticVariation disease BEFREE We describe a novel NGF mutation in an individual with typical HSAN5 findings. 30296891 2019
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GeneticVariation disease BEFREE Although those HSAN V patients associated with the NGF<sup>R100W</sup> mutation suffer from severe loss of deep pain, bone fractures and joint destruction, interestingly patients with the NGF<sup>R100W</sup> mutation do not show apparent cognitive deficits, suggesting important trophic support function is preserved. 30632491 2019
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GeneticVariation disease BEFREE A missense mutation (R100W) in the beta-NGF gene was found in hereditary sensory autonomic neuropathy V (HSAN V) patients with severe loss of pain perception but without overt cognitive impairment. 30524266 2018
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GeneticVariation disease BEFREE Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5. 30384131 2018
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 Biomarker disease BEFREE The integration of both TrkA and p75<sup>NTR</sup> signaling thus appears to regulate neuroplastic effects of NGF in peripheral nociception.<b>SIGNIFICANCE STATEMENT</b> In the present study, we characterized the naturally occurring nerve growth factor NGF<sup>R100W</sup> mutant that is associated with hereditary sensory and autonomic neuropathy type V. We have demonstrated for the first time that NGF<sup>R100W</sup> retains trophic support capability through TrkA, but fails to engage p75<sup>NTR</sup> signaling pathways. 29483280 2018
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GeneticVariation disease BEFREE Recently a homozygous missense mutation (R100W) in the NGF gene has been identified in HSAN V patients. 24494679 2014
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 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
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GeneticVariation disease UNIPROT Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. 22302274 2012
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GeneticVariation disease UNIPROT It is concluded that the HSAN4 and HSAN5 phenotypes are parts of a phenotypic spectrum caused by changes in the NGF/TRKA signalling pathway. 20978020 2011
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 Biomarker disease BEFREE It is concluded that the HSAN4 and HSAN5 phenotypes are parts of a phenotypic spectrum caused by changes in the NGF/TRKA signalling pathway. 20978020 2011
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 Biomarker disease BEFREE These results provide a basis for elucidating the mechanisms underlying the clinical manifestations of HSAN V patients, and provide a basis for the development of "painless" hNGF molecules with therapeutic potential. 19945432 2010
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 Biomarker disease GENOMICS_ENGLAND Nerve growth factor R221W responsible for insensitivity to pain is defectively processed and accumulates as proNGF. 19038341 2009
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GeneticVariation disease BEFREE A family with neurological findings similar to hereditary sensory and autonomic neuropathy type V having a point mutation in the nerve growth factor beta (NGFB) gene was recently described. 18420729 2009
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 Biomarker disease GENOMICS_ENGLAND A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. 14976160 2004
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 Biomarker disease GENOMICS_ENGLAND A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. 14976160 2004
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 Biomarker disease GENOMICS_ENGLAND Structure of nerve growth factor complexed with the shared neurotrophin receptor p75. 15131306 2004
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GermlineCausalMutation disease ORPHANET A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. 14976160 2004
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GeneticVariation disease UNIPROT A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. 14976160 2004
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 GeneticVariation disease BEFREE We have studied a large Swedish family with a mutation in the nerve growth factor beta (NGFB) gene causing insensitivity to deep pain without anhidrosis (hereditary sensory and autonomic neuropathy, type V; HSAN V). 15468048 2004
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 Biomarker disease BEFREE No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V. 12210794 2002
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 Biomarker disease GENOMICS_ENGLAND Targeted mutation of the gene encoding the low affinity NGF receptor p75 leads to deficits in the peripheral sensory nervous system. 1317267 1992
Hereditary Sensory Autonomic Neuropathy, Type 5
0.800 CausalMutation disease CLINVAR