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GTR Home > Conditions/Phenotypes > Autoimmune interstitial lung disease-arthritis syndrome

Autoimmune interstitial lung disease-arthritis syndrome

Synonyms
Autoimmune interstitial lung, joint, and kidney disease
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015). [from OMIM]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AILJK, HEP-COP, alpha-COP, COPA
    Summary: COPI coat complex subunit alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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