PFAPA syndrome
Synonyms: Marshall syndrome with periodic fever · Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood, Infancy
- Status
- active
PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PFAPA syndrome | Marshall syndrome with periodic fever · Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome |
| fr | Syndrome PFAPA | Fièvre périodique type Marshall · Syndrome de fièvre périodique-stomatite aphteuse-pharyngite-adénopathie |
| de | PFAPA-Syndrom | Marshall-Syndrom mit periodischem Fieber · Syndrom des periodischen Fiebers, aphthöser Stomatitis, Pharyngitis und Adenitis |
| es | Síndrome PFAPA | Síndrome de Marshall con fiebre periódica · Síndrome de fiebre periódica-estomatitis aftosa-faringitis-adenopatía |
| it | Sindrome PFAPA | Sindrome di Marshall con febbre periodica · Sindrome febbre periodica-stomatite aftosa-faringite-adenopatia |
| nl | PFAPA-syndroom | Periodieke koorts - afteuze stomatitis - faryngitis - adenopathie-syndroom · Syndroom van Marshall met periodieke koorts |
| pt | Síndrome PFAPA | Síndrome Marshall com febre periódica · Síndrome de febre periódica-estomatite aftosa-faringite-adenopatia |
| pl | Zespół PFAPA | Zespół gorączki okresowej, aftowego zapalenia jamy ustnej, zapalenia gardła i adenopatii · Zespół Marshalla z gorączką okresową |
| cs | PFAPA syndrom | Marshallův syndrom s periodickou horečkou · Syndrom zahrnující periodickou horečku, aftózní stomatitidu, faryngitidu a adenopatii |
| uk | Синдром PFAPA | Синдром Маршалла з періодичною лихоманкою · Періодична лихоманка - афтозний стоматит - фарингіт - аденопатія |
| zh | PFAPA综合征 | 周期热-口疮性口炎-咽炎-腺病综合征 |
| tr | PFAPA sendromu | Periyodik ateşli Marshall sendromu · Periyodik ateş-aftöz stomatit-farenjit-adenopati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E85.0 | NTBT | attributed | validated |
| ICD-11 | DA01.10 | NTBT | index | validated |
| MONDO | 0018540 | E | validated | |
| UMLS | C4082167 | E | validated | |
| GARD | 5657 | E | validated | |
| MedDRA | 10070594 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:102237Unexplained periodic fever syndrome
rare systemic and rheumatological diseases - ORPHA:324960Unexplained periodic fever syndrome of childhood
rare systemic or rheumatologic diseases of childhood
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 500 cases | Worldwide | Case(s) | Validated | 24505122[PMID]_24677969[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
27 annotations · validated 2024-02-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000163 | Abnormal oral cavity morphology | |
| HP:0004370 | Abnormality of temperature regulation | |
| HP:0000708 | Atypical behavior | |
| HP:0002383 | Infectious encephalitis | |
| HP:0002840 | Lymphadenitis | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002076 | Migraine | |
| HP:0032323 | Periodic fever | |
| HP:0100776 | Recurrent pharyngitis | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0002829 | Arthralgia | |
| HP:0025289 | Cervical lymphadenopathy | |
| HP:0002307 | Drooling | |
| HP:0012378 | Fatigue | |
| HP:0002315 | Headache | |
| HP:0000737 | Irritability | |
| HP:0003326 | Myalgia | |
| HP:0025439 | Pharyngitis | |
| HP:0011107 | Recurrent aphthous stomatitis | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001369 | Arthritis | |
| HP:0002240 | Hepatomegaly | |
| HP:0012514 | Lower limb pain | |
| HP:0002024 | Malabsorption | |
| HP:0002017 | Nausea and vomiting | |
| HP:0011110 | Recurrent tonsillitis | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 34430824[PMID]_30798384[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/42642
- This record as JSON: /data/d/42642.json