SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
Disease: Hermanski-Pudlak Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		0.010 Biomarker disease BEFREE Patients with mutations in surfactant-processing genes, such as surfactant protein C (<i>SFTPC</i>), surfactant protein A1 and A2 (<i>SFTPA1</i> and <i>A2</i>), ATP binding cassette A3 (<i>ABCA3</i>) and Hermansky-Pudlak syndrome (<i>HPS1</i>, <i>2</i> and <i>4</i>), develop progressive pulmonary fibrosis, often culminating in fatal respiratory insufficiency. 29997245 2018