Interstitial Lung Disease 1

Alternative Names

  • ILD1
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WHO-ICD-10 version:2010

Diseases of the respiratory system

Other respiratory diseases principally affecting the interstitium

OMIM Number

619611

Mode of Inheritance

Autosomal recessive Autosomal dominant

Gene Map Locus

10q22.3

Description

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). [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
619611.1United Arab EmiratesFemaleNoYes Recurrent respiratory infections; Elevat...NM_001093770.2:c.293G>CHeterozygousAutosomal, DominantAlsamri et al. 2020; Alsamri et al. 2021 Patient had trisomy ...
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