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: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE Synthetic surfactants with SP-B and SP-C analogues to enable worldwide treatment of neonatal respiratory distress syndrome and other lung diseases. 30357986 2019
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE Mutations of the Surfactant Protein C (SPC) gene (SFTPC) have been associated with childhood interstitial lung disease (chILD) with variable age of onset, severity of lung disease, and outcomes. 27362365 2017
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE Our objective was to characterize the cellular/ultrastructural correlates of surfactant protein C (SP-C) mutations in children with idiopathic diffuse lung diseases. 25782673 2015
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE Drawing on data generated from a variety of model systems expressing disease-related surfactant component mutations [surfactant proteins A and C (SP-A and SP-C); the lipid transporter ABCA3], this review will examine the concept of epithelial dysfunction in fibrotic lung disease, provide an update on AT2 cell and surfactant biology, summarize cellular responses to mutant surfactant components [including endoplasmic reticulum (ER) stress, mitochondrial dysfunction, and intrinsic apoptosis], and examine quality control pathways (unfolded protein response, the ubiquitin-proteasome system, macroautophagy) that can be utilized to restore AT2 homeostasis. 26186947 2015
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE Large ABCA3 and SFTPC deletions resulting in lung disease. 24024739 2013
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE Genetic analysis identified a novel SFTPC mutation as the cause of her lung disease. 23719253 2013
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis. 20658481 2010
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE New surfactant protein C gene mutations associated with diffuse lung disease. 19443464 2009
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE Certain SP-C gene (SFTPC) polymorphisms associate with lung diseases and very preterm birth. 19735006 2009
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE The genes encoding SP-B (SFTPB), SP-C (SFTPC), and ABCA3 (ABCA3) were sequenced from the parents of one infant and two unrelated infants with fatal neonatal lung disease. 17429902 2007
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. 17597647 2007
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 AlteredExpression group BEFREE This review examines our current understanding of the role of SP-C in maintaining alveolar epithelial homeostasis and the potential role of abnormal SP-C expression in the development of lung diseases with particular emphasis on microbial pulmonary infection and inflammation. 16782390 2006
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE Rare polymorphisms within surfactant protein C have been linked to sporadic paediatric lung diseases, like proteinosis or interstitial lung diseases. 17121584 2006
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE This particular SFTPC mutation is novel, and the infant's lung disease was unusually severe compared to what has been previously reported in association with SFTPC mutations. 16355106 2006
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE A common mutation in the surfactant protein C gene associated with lung disease. 15756222 2005
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE Surfactant protein C biosynthesis and its emerging role in conformational lung disease. 15709974 2005
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group LHGDN This work reviews the current state of knowledge concerning the lung diseases associated with mutations in the SP-B and SP-C genes, and the potential roles of abnormal SP-B and SP-C expression and genetic variation in these genes in other lung diseases. 14977415 2004
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE This work reviews the current state of knowledge concerning the lung diseases associated with mutations in the SP-B and SP-C genes, and the potential roles of abnormal SP-B and SP-C expression and genetic variation in these genes in other lung diseases. 14977415 2004
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. 15039969 2004
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE The goal of this study was to determine whether a disease-linked mutation in SFTPC causes lung disease in transgenic mice. 14525980 2003
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE Moreover, reports on the association of development of lung disease with SP-C deficiency have led to new insights into the importance of SP-C for proper surfactant homeostasis. 12176392 2002
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 Biomarker group BEFREE The development of peptide analogues of SP-B and SP-C offers the possibility to study their molecular mechanism of action and will allow the design of surfactant formulations for specific pulmonary diseases and better quality control. 11001826 2000
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.100 GeneticVariation group BEFREE In contrast, mutations in the SP-C gene have not yet been identified or shown to cause lung disease, although given the apparent importance of SP-C in surfactant function, this remains a possibility. 9813382 1998