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Interstitial lung disease 1

Summary

Interstitial lung disease (ILD) comprises a heterogeneous group of rare diseases affecting the distal part of the lung and characterized by a progressive remodeling of the alveolar interstitium. The manifestations form a spectrum ranging from idiopathic interstitial pneumonia (IIP) or pneumonitis to the more severe idiopathic pulmonary fibrosis (IPF). IPF is associated with an increased risk of developing lung cancer, which occurs in a subset of patients with ILD. Clinical features of ILD include dyspnea, clubbing of the fingers, and restrictive lung capacity. Imaging typically shows ground glass opacities and inter- and intraseptal thickening, while histologic studies usually show a pattern consistent with 'usual interstitial pneumonia' (UIP) (summary by Nathan et al., 2016, Doubkova et al., 2019). Genetic Heterogeneity of Interstitial Lung Disease See also ILD2 (178500), caused by mutation in the SFTPA2 gene (178642) on chromosome 10q22. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: COLEC4, ILD1, PSAP, PSP-A, PSPA, SFTP1, SFTPA1B, SP-A, SP-A1, SP-A1 beta, SP-A1 delta, SP-A1 epsilon, SP-A1 gamma, SPA, SPA1, SFTPA1
    Summary: surfactant protein A1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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