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: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE Transduction of pulmonary fibrosis-associated mutant surfactant protein C (SFPTC<sup>Δexon4</sup>) into AEC2 revealed characteristic transcriptional traits similar to those of patients with idiopathic pulmonary fibrosis. 31178143 2019
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE We have previously shown that targeting the type II alveolar epithelium for injury by repetitively administering diphtheria toxin to transgenic mice expressing the diphtheria toxin receptor off of the surfactant protein C promoter (SPC-DTR) develop lung fibrosis, confirming that AEC injury is sufficient to cause fibrosis. 30333529 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 AlteredExpression disease BEFREE These data provide proof of principle that mutant SP-C expression in vivo causes spontaneous lung fibrosis, strengthening the role of AT2 cell dysfunction as a key upstream driver of IPF pathogenesis. 29920187 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE Although mutant forms of the gene encoding surfactant protein C (SFTPC) have been linked to interstitial lung disease, the mechanisms by which the most common of these mutations, SFTPCI73T, results in lung fibrosis are uncertain.In this issue of the JCI, Nureki et al. developed a knockin mouse model and showed that SFTPCI73T is expressed by alveolar type II (AT2) epithelial cells in the lungs. 30102252 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 Biomarker disease BEFREE Here we show in humans that MUC5B, a mucin thought to be restricted to conducting airways, is co-expressed with surfactant protein C (SFTPC) in type 2 alveolar epithelia and in epithelial cells lining honeycomb cysts, indicating that cell types involved in lung fibrosis in distal airspace express MUC5B. 30560893 2018
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 Biomarker disease BEFREE Hyaluronan and TLR4 promote surfactant-protein-C-positive alveolar progenitor cell renewal and prevent severe pulmonary fibrosis in mice. 27694932 2016
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE Surfactant protein C mutations are dominant or sporadic disorders leading to a broad spectrum of manifestations from neonatal respiratory distress syndrome to adult pulmonary fibrosis. 24047351 2013
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE The mutation increases endoplasmic reticulum stress and induces apoptotic cell death compared with wild-type SP-C in alveolar type II cells, supporting the significance of this mutation in the pathogenesis of pulmonary fibrosis. 21828032 2011
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort. 20656946 2010
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE In particular, SFTPC mutations have been reported in a number of familial forms of pulmonary fibrosis and in infants with interstitial lung diseases. 17005585 2007
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 Biomarker disease BEFREE Candidate gene studies indicate that surfactant protein C and telomerase are susceptibility genes for the development of pulmonary fibrosis. 18037811 2007
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE Genetic studies in familial lung fibrosis have demonstrated an association with surfactant protein C genes: two mutations have been found resulting in protein misfolding and causing type-II epithelial cell injury. 15863652 2005
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE The genomic DNA of the affected brothers was sequenced for the reported surfactant protein C (SP-C) gene mutations in patients with familial pulmonary fibrosis, but none was documented. 14674994 2004
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE Recent reports have linked genetic mutations in surfactant protein C (SFTPC) with familial forms of pulmonary fibrosis, including one large family in which a number of family members were diagnosed with usual interstitial pneumonitis (UIP), the pathological correlate to IPF. 15516475 2004
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 GeneticVariation disease BEFREE Transgenic mice expressing transforming growth factor alpha (TGF-alpha) in type II cells under control of the lung-specific surfactant protein-C (SP-C) promoter develop pulmonary fibrosis and marked airspace hypoplasia. 8879184 1996
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
0.200 Biomarker disease HPO