SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE I73T was a common SFTPC mutation in Chinese ILD children associated with surfactant protein C mutations. 31462320 2019
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE Epithelial Expression of an Interstitial Lung Disease-Associated Mutation in Surfactant Protein-C Modulates Recruitment and Activation of Key Myeloid Cell Populations in Mice. 30910861 2019
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE Mutations in the gene encoding surfactant protein C (SFTPC) have led to a broad range of phenotypes from neonatal respiratory distress syndrome to adult interstitial lung disease. 28295039 2017
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE A novel surfactant protein C mutation resulting in aberrant protein processing and altered subcellular localization causes infantile interstitial lung disease. 28157837 2017
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 Biomarker group BEFREE Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation. 26925580 2016
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 Biomarker group BEFREE While a lack of dimeric SP-B was found only in the sole subject with hereditary SP-B deficiency, low or absent SP-C was observed not only in surfactant dysfunction disorders but also in patients with other diffuse parenchymal lung diseases pathogenetically related to the alveolar surfactant region. 26375475 2016
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE We detected a novel c.163C>T mutation located in the mature domain of SFTPC associated with ILD that altered the subcellular localization of proSP-C in A549 cells. 26375473 2016
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE We examined whether MUC5B is similarly linked to ILD secondary to SFTPC mutations. 25858779 2015
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE We report on all subjects collected over a 15-year period in the kids-lung register with interstitial lung disease and a proven SFTPC mutation. 25657025 2015
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE Furthermore, to understand how the pro-SP-C BRICHOS domain present in the ER lumen can interact with the TM segment of pro-SP-C, we studied the membrane insertion properties of the recombinant form of the pro-SP-C BRICHOS domain and two ILD-associated mutants. 26041777 2015
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE Mutation of threonine for isoleucine at codon 73 (I73T) in the human surfactant protein C (hSP-C) gene (SFTPC) accounts for a significant portion of SFTPC mutations associated with interstitial lung disease (ILD). 25344067 2015
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE Natural history of five children with surfactant protein C mutations and interstitial lung disease. 24347114 2014
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE ProSP-C contains a BRICHOS domain, in which many ILD-associated mutations are localized, and the BRICHOS domain can prevent SP-C from forming amyloid-like fibrils. 24099305 2013
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE To identify possible starting points for therapeutic intervention, we stably transfected A549 alveolar epithelial cells with several proSP-C mutations previously found in patients suffering from ILD. 23701443 2013
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE A 333-base deletion involving part of exon 4 and the adjacent intron of the gene encoding surfactant protein C was identified in a child with interstitial lung disease. 24024739 2013
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE Conclusion Since ABCA3 mutations seem to be a heterogeneous entity with various phenotypes, we recommend genetic testing for mutations in SP-C and ABCA3 genes to be considered in children with unexplained interstitial lung disease. 23443156 2013
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE Deleterious mutations of SP-B, ABCA3 or SP-C cause congenital interstitial lung disease that mimics the phenotype of established severe BPD. 23736009 2013
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE More important, it offers the updated viewpoint that mutations in the BRICHOS domain of surfactant protein C, which cause interstitial lung disease and induce cell death specifically in lung epithelial cells, in effect provide genetic proof that the Witschi Hypothesis is indeed the correct theory to explain the pathogenesis of fibrosis in the lungs. 24142519 2013
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 Biomarker group BEFREE Our findings shed new light on the pathomechanisms underlying SP-C deficiency associated ILD and provide insight into the mechanisms by which drugs currently used in ILD therapy act. 22458263 2012
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 Biomarker group BEFREE The BRICHOS domain was initially defined from sequence alignments of the Bri protein associated with familial dementia, chondromodulin associated with chondrosarcoma and surfactant protein C precursor (proSP-C) associated with respiratory distress syndrome and interstitial lung disease (ILD). 21668643 2011
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE Interstitial lung disease in both children and adults has been linked to mutations in the lung-specific surfactant protein C (SFTPC) gene. 21707890 2011
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE These findings demonstrate that subclinical fibrotic changes may be present in family members of patients with SFTPC mutation-associated interstitial lung disease and suggest that ABCA3 variants could affect disease pathogenesis. 20371530 2010
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE We identified two novel mutations in highly conserved areas of the SFTPC gene, and show that heterozygotes for the mutations have normal lung function and are unaffected by COPD and interstitial lung disease. 19910179 2010
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation. 20403820 2010
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.500 GeneticVariation group BEFREE The most frequent SFTPC mutation in ILD patients leads to a threonine for isoleucine substitution at position 73 (I73T) of the SP-C preprotein (proSP-C), however little is known about the cellular consequences of SP-CI73T expression. 21092132 2010