PFAPA syndrome
Findings
No curated finding names PFAPA syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.
Definition from the Mondo Disease Ontology (MONDO:0018540), read 2026-09-29. CC BY 4.0.
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal oral cavity morphologyHPOHP:0000163
- Very frequent (80% to 99% of cases)
- Abnormality of temperature regulationHPOHP:0004370
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Infectious encephalitisHPOHP:0002383
- Very frequent (80% to 99% of cases)
- LymphadenitisHPOHP:0002840
- Very frequent (80% to 99% of cases)
- LymphadenopathyHPOHP:0002716
- Very frequent (80% to 99% of cases)
- MigraineHPOHP:0002076
- Very frequent (80% to 99% of cases)
- Periodic feverHPOHP:0032323
- Very frequent (80% to 99% of cases)
- Recurrent pharyngitisHPOHP:0100776
- Very frequent (80% to 99% of cases)
- Weight lossHPOHP:0001824
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Frequent (30% to 79% of cases)
- Cervical lymphadenopathyHPOHP:0025289
- Frequent (30% to 79% of cases)
Show the remaining 15
- DroolingHPOHP:0002307
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
- IrritabilityHPOHP:0000737
- Frequent (30% to 79% of cases)
- MyalgiaHPOHP:0003326
- Frequent (30% to 79% of cases)
- PharyngitisHPOHP:0025439
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SPAG7HGNC:11216
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: PFAPA syndrome
- Also called
- Marshall syndrome with periodic feverperiodic fever-aphtous stomatitis-pharyngitis-adenopathy syndromeperiodic fever, aphthous stomatitis, pharyngitis and adenitisperiodic fever, aphthous stomatitis, pharyngitis, adenitis syndromePFAPA