Marshall syndrome with periodic fever

General Information (adopted from Orphanet):

Synonyms, Signs: PFAPA syndrome
Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome
Number of Symptoms 18
OrphanetNr: 42642
OMIM Id:
ICD-10: E85.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 41 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autoinflammatory syndrome with immune deficiency
 -Rare genetic disease
 -Rare immune disease
Unexplained periodic fever syndrome
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0011830) Abnormality of oral mucosa Very frequent [Orphanet] 47 / 7739
2
 (HPO:0100776) Recurrent pharyngitis Very frequent [Orphanet] 18 / 7739
3
 (HPO:0002383) Encephalitis Very frequent [Orphanet] 41 / 7739
4
 (HPO:0100851) Abnormal emotion/affect behavior Very frequent [Orphanet] 85 / 7739
5
 (HPO:0002315) Headache Very frequent [Orphanet] 175 / 7739
6
 (HPO:0100769) Synovitis Occasional [Orphanet] 86 / 7739
7
 (HPO:0005059) Arthralgia/arthritis Very frequent [Orphanet] 141 / 7739
8
 (HPO:0002017) Nausea and vomiting Occasional [Orphanet] 134 / 7739
9
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
10
 (HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
11
 (HPO:0002027) Abdominal pain Occasional [Orphanet] 184 / 7739
12
 (HPO:0002242) Abnormality of the intestine Occasional [Orphanet] 42 / 7739
13
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
14
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
15
 (HPO:0011227) Elevated C-reactive protein level Occasional [Orphanet] 55 / 7739
16
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
17
 (HPO:0002716) Lymphadenopathy Very frequent [Orphanet] 129 / 7739
18
 (HPO:0001324) Muscle weakness Frequent [Orphanet] 859 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: