autoimmune interstitial lung, joint, and kidney disease

Summary
Synonym
  • Autoimmune interstitial lung disease-arthritis syndrome
  • COPA syndrome
Definition
A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23.
Super Class
autoimmune disease autosomal dominant disease syndrome
Disease Ontology
DOID:0081242
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1314 COPA COPI coat complex subunit alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
12847 Copa coatomer protein complex subunit alpha

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024