SFTPB, surfactant protein B, 6439

N. diseases: 108; N. variants: 11
Disease: Respiratory Failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 Biomarker disease BEFREE Both proteins are fundamental for an optimal surfactant activity in vivo and SP-B genetic deficiency causes lethal respiratory failure after birth. 30075031 2018
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 Biomarker disease BEFREE Although rare, childhood ILD (chILD) is associated with significant morbidity and mortality, most notably in conditions of disordered surfactant function, with respiratory failure in 100% of neonates with surfactant protein B dysfunction and 100% mortality without lung transplantation. 29019755 2017
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 Biomarker disease BEFREE All SFTPB cases died from intractable respiratory failure. 23625987 2013
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 GeneticVariation disease BEFREE To characterize inheritance of homozygous, rare, recessive loss-of-function mutations in surfactant protein-B (SFTPB) or ATP binding cassette, subfamily A, member 3 (ABCA3) genes in newborns with lethal respiratory failure. 19647838 2009
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 GeneticVariation disease BEFREE Recessive loss of function mutations in surfactant protein-B (SP-B) gene lead to respiratory failure that is lethal in the newborn period while single allelic mutations in the surfactant protein-C (SP-C) gene cause interstitial lung disease of varying severity and age of onset. 17142157 2006
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 GeneticVariation disease BEFREE The objective was to determine whether the SP-B + 1580 CC genotype is associated with an increased risk of respiratory failure and ARDS in adults with community-acquired pneumonia. 15190959 2004
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 Biomarker disease BEFREE Rare mutations causing an absence of the SP-B protein result in progressive respiratory failure. 12667827 2003
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 Biomarker disease BEFREE Hereditary SP-B deficiency is a rare, newly diagnosable and probably under-recognized disease, which should be suspected in term newborn infants with unexplained respiratory failure. 10663288 2000
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 GeneticVariation disease BEFREE Homozygosity for a common mutation (1549C-->GAA, or 121ins2) of the SP-B-encoding gene (SFTPB) results in rapidly fatal respiratory failure, with complete absence of the mRNA and protein observed in lung fluid or biopsy specimens. 10571948 1999
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 GeneticVariation disease BEFREE Inherited deficiency of surfactant protein-B (SP-B) is a fatal autosomal recessive disorder of lung cell metabolism caused most frequently by a frameshift mutation in codon 121 of the SP-B gene (121ins2) and is characterized by rapidly progressive respiratory failure immediately after birth. 9927351 1999
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 Biomarker disease BEFREE We conclude that this patient had a transient deficiency of SP-B, in contrast to that of previously described infants with irreversible respiratory failure caused by hereditary SP-B deficiency. 9506635 1998
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 Biomarker disease BEFREE Ablation of the SP-B gene disrupts the routing, storage, and function of surfactant phospholipids and proteins, causing respiratory failure at birth. 7644495 1995
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 GeneticVariation disease BEFREE Congenital alveolar proteinosis (CAP) is an often fatal cause of respiratory failure in term newborn infants, which has been associated with a genetic deficiency of surfactant protein B (SP-B) as a result of a frameshift mutation (121ins2) in a family with three affected siblings. 8021783 1994
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 Biomarker disease BEFREE To determine the molecular defect accounting for the deficiency of pulmonary surfactant protein B (SP-B) in full-term neonates who died from respiratory failure associated with alveolar proteinosis, the sequence of the SP-B transcript in affected infants was ascertained. 8163685 1994
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.200 Biomarker disease HPO