loading...| Preferred Name |
Pyogenic arthritis, pyoderma gangrenosum, and acne |
| Synonyms |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne |
| ID |
http://purl.bioontology.org/ontology/MESH/C536253 |
| altLabel |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Familial recurrent arthritis PAPA syndrome Pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne |
| cui |
C1858361 |
| HM |
D017511 D001170 D000152 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D001170 |
| MDA |
20100825 |
| MeSH Frequency |
61 |
| MMR |
20150818 |
| notation |
C536253 |
| prefLabel |
Pyogenic arthritis, pyoderma gangrenosum, and acne |
| SC |
3 |
| Scope Statement |
A hereditary autosomal dominant disorder characterized by pyogenic (infectious) arthritis, pyoderma gangrenosum, and severe cystic acne. Onset is in childhood; pyoderma gangrenosum; and severe cystic acne occur in adolescence and beyond. Other less common features may include adult-onset DIABETES MELLITUS, TYPE I; PROTEINURIA, ABSCESS formation at the site of parenteral injections, and cytopenias attributable to SULFONAMIDE medications. Mutations in the PSTPIP1 gene have been identified. OMIM: 604416 |
| TERMUI |
T826248 T000883562 T738747 T738745 T738743 |
| TH |
NLM (2013) ORD (2010) OMIM (2013) |
| tui |
T047 |