PAPA syndrome

Summary
Synonym
  • pyogenic arthritis, pyoderma gangrenosum and acne
Definition
A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24.
Super Class
autosomal dominant disease syndrome
External Links
Disease Ontology
DOID:0080519
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
9051 PSTPIP1 proline-serine-threonine phosphatase interacting protein 1

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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024