Pyogenic sterile arthritis, pyoderma gangrenosum, and acne

Preferred Label : Pyogenic sterile arthritis, pyoderma gangrenosum, and acne;

Symbol : PAPA;

CISMeF acronym : FRA; PAPAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PAPAS; Papa syndrome; FRA; Familial recurrent arthritis;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP1, 606347.0001);

Prefixed ID : #604416;

Détails

Origin ID

604416;

UMLS CUI

C1858361;

Automatic exact mappings (from CISMeF team)
- GLI3 wt Allele [NCIt concept]
- PAPPA wt Allele [NCIt concept]
- PSTPIP1 wt Allele [NCIt concept]
- Pregnancy associated plasma protein A [LOINC component]
- antigens, Fos-Related [MeSH concept]
- pregnancy-associated plasma protein-a [MeSH Descriptor]
- proline-serine-threonine phosphatase interacting protein 1 [ORDO Gene]
Currated CISMeF NLP mapping
- PAPA syndrome [MedDRA LLT]
- PAPA syndrome [DO Concept]
- Pyogenic Arthritis, Pyoderma Gangrenosum and Acne [NCIt concept]
- Pyogenic arthritis - pyoderma gangrenosum - acne [ICD-11 More detail]
- Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) [SNOMED CT concept]
- Pyogenic arthritis, pyoderma gangrenosum, and acne [MeSH concept]
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome [ORDO Disease]
- Pyogenic sterile arthritis pyoderma gangrenosum and acne syndrome [MedDRA Preferred Term]
- pyogenic arthritis, pyoderma gangrenosum, and acne [MeSH Supplementary Concept]
- pyogenic sterile arthritis, pyoderma gangrenosum, acne syndrome [Disease (Nov.)]
DO Cross reference
- PAPA syndrome [DO Concept]
False automatic mappings
- France [NCIt concept]
- French Language [NCIt concept]
Genes related to phenotype
- Proline/serine/threonine phosphatase-interacting protein 1 [OMIM gene]
HPO term(s)
- Acne [HPO term]
- Allergy [HPO term]
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cellulitis [HPO term]
- Colitis [HPO term]
- Cystic acne [HPO term]
- Elbow flexion contracture [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Hepatosplenomegaly [HPO term]
- Knee flexion contracture [HPO term]
- Microcytic anemia [HPO term]
- Pancytopenia [HPO term]
- Pyoderma gangrenosum [HPO term]
- Sterile abscess [HPO term]
- Sterile arthritis [HPO term]
- Thrombocytosis [HPO term]
ORDO concept(s)
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PAPA syndrome [MedDRA LLT]
- Pyogenic Arthritis, Pyoderma Gangrenosum and Acne [NCIt concept]
- Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) [SNOMED CT concept]
- Pyogenic arthritis, pyoderma gangrenosum, and acne [MeSH concept]
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome [ORDO Disease]
- Pyogenic sterile arthritis pyoderma gangrenosum and acne syndrome [MedDRA Preferred Term]
- pyogenic arthritis, pyoderma gangrenosum, and acne [MeSH Supplementary Concept]
- pyogenic sterile arthritis, pyoderma gangrenosum, acne syndrome [Disease (Nov.)]

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