U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Pyogenic arthritis-pyoderma gangrenosum-acne syndrome

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome

Synonyms
Familial recurrent arthritis; Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne; Pyogenic arthritis, pyoderma gangrenosum and acne; Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare pleiotropic auto-inflammatory disorder of childhood, primarily affecting the joints and skin. The first affected family contained ten affected members from three generations and manifested variable expression of a pauciarticular, nonaxial, arthritis that began in childhood; pyoderma gangrenosum; and severe cystic acne in adolescence and beyond. Recurrent sterile arthritis usually occurs after minor trauma, but can also occur spontaneously. PAPA syndrome is a self-limiting disease, but it can lead to severe joint destruction. The gene responsible for the syndrome is the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1). [from SNOMEDCT_US]

Available tests

33 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (33 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD2BP1, CD2BP1L, CD2BP1S, H-PIP, PAPAS, PSTPIP, PSTPIP1
    Summary: proline-serine-threonine phosphatase interacting protein 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.