Details of Disease

General Information of Disease (ID: DIS7E15X)

Disease Name Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Synonyms
pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne; pyogenic STERILE arthritis, pyoderma gangrenosum, and acne; pyogenic arthritis, pyoderma gangrenosum and acne; Papas; familial recurrent arthritis; fra; papa syndrome; papa
Definition A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin.
Disease Hierarchy
DISAEGPH: Immune system disorder
DISCMCGL: Autoinflammatory syndrome
DIS8I9FS: Hereditary disorder of connective tissue
DIS7E15X: Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Disease Identifiers
MONDO ID
MONDO_0011462
MESH ID
C536253
UMLS CUI
C1858361
OMIM ID
604416
MedGen ID
346801
Orphanet ID
69126
SNOMED CT ID
724015007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MVK TT5DFHW Strong Genetic Variation [1]
RIPK4 TTB4S01 Strong Genetic Variation [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCC11 DTWN7FC Strong Altered Expression [3]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MEFV OTRJ6S6K Strong Biomarker [4]
PSTPIP1 OT4PGEAB Strong Autosomal dominant [5]
PTPN12 OT5WA666 Strong Biomarker [6]
PTPN18 OT0S09B3 Strong Genetic Variation [7]
RABEP2 OTO61X27 Strong Genetic Variation [8]
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References

1 Autoinflammatory gene mutations in Behet's disease.Ann Rheum Dis. 2007 Jun;66(6):832-4. doi: 10.1136/ard.2006.068841. Epub 2007 Jan 9.
2 Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.Am J Med Genet A. 2015 Nov;167A(11):2555-62. doi: 10.1002/ajmg.a.37233. Epub 2015 Jun 30.
3 Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1.Curr Opin Rheumatol. 2016 Sep;28(5):550-9. doi: 10.1097/BOR.0000000000000314.
4 PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report.Ital J Pediatr. 2019 Aug 23;45(1):111. doi: 10.1186/s13052-019-0705-z.
5 Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. Am J Hum Genet. 2000 Apr;66(4):1443-8. doi: 10.1086/302866. Epub 2000 Mar 21.
6 Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.Hum Mol Genet. 2002 Apr 15;11(8):961-9. doi: 10.1093/hmg/11.8.961.
7 PEST family phosphatases in immunity, autoimmunity, and autoinflammatory disorders.Immunol Rev. 2009 Mar;228(1):312-24. doi: 10.1111/j.1600-065X.2008.00747.x.
8 Circulatory disease mortality and diabetes incidence in 27 families with Friedreich ataxia.Genet Epidemiol. 1988;5(6):445-52. doi: 10.1002/gepi.1370050608.