Details of Disease | DrugMAP

General Information of Disease (ID: DISXH0F2)

Disease Name	Autoimmune interstitial lung disease-arthritis syndrome
Synonyms	AILJK; autoimmune interstitial lung, joint, and kidney disease; copa defect; COPA Syndrome; copa syndrome
Definition	A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.\|Editor note: check relationship to RA-ILD
Disease Hierarchy	DISGGAGJ: Respiratory disease DISKP5TO: Type 1 interferonopathy of childhood DIS8I9FS: Hereditary disorder of connective tissue DISXH0F2: Autoimmune interstitial lung disease-arthritis syndrome
Disease Identifiers	MONDO ID MONDO_0014629 UMLS CUI C5243948 OMIM ID 616414 MedGen ID 1800821 Orphanet ID 444092 SNOMED CT ID 1222679006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COPA	OTZ1DTXU	Strong	Autosomal dominant	[1]
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References

1	COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 Jun;47(6):654-60. doi: 10.1038/ng.3279. Epub 2015 Apr 20.