MCID: PRD012
MIFTS: 25

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis malady

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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Sources:
46NIH Rare Diseases, 66UMLS, 52Orphanet, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis:

Name: Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 46
Marshall Syndrome 46 66
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome 66
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome 52
 
Marshall Syndrome with Periodic Fever 52
Pfapa Syndrome 52
Pfapa 46

Characteristics:

Orphanet epidemiological data:

52
periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome:
Age of onset: Childhood,Infancy; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet52 ORPHA42642
ICD10 via Orphanet29 E85.0

Summaries for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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NIH Rare Diseases:46 Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (pfapa) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods. pfapa is characterized by high fevers lasting three to six days and recurring every 21 to 28 days, accompanied by some or all of the signs noted in its name, namely mouth sores (aphthous stomatitis), sore throat (pharyngitis), and enlarged lymph nodes (cervical adenitis). the syndrome usually occurs in children younger than five years; although it has been reported in children up to 13 years. the syndrome is sporadic and non-hereditary. the course of pfapa can be persistent for years before spontaneous, full resolution. last updated: 10/7/2013

MalaCards based summary: Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis, also known as marshall syndrome, is related to marshall syndrome and pharyngitis, and has symptoms including abnormality of the oral cavity, behavioral abnormality and weight loss. Affiliated tissues include lymph node and bone.

Related Diseases for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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Diseases related to Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1marshall syndrome12.4
2pharyngitis10.9
3stomatitis10.9
4aphthous stomatitis10.9
5cutis laxa9.8
6syphilis9.8
7congenital syphilis9.8
8skeletal dysplasias9.8
9skeletal dysplasia9.8
10acquired cutis laxa9.8

Graphical network of diseases related to Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis:



Diseases related to periodic fever, aphthous stomatitis, pharyngitis and adenitis

Symptoms for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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Symptoms:

 52 (show all 16)
  • abnormality of the oral cavity
  • behavioral abnormality
  • arthritis
  • splenomegaly
  • weight loss
  • nausea and vomiting
  • malabsorption
  • abdominal pain
  • migraine
  • hepatomegaly
  • encephalitis
  • lymphadenopathy
  • arthralgia
  • abnormality of temperature regulation
  • fatigue
  • recurrent pharyngitis

HPO human phenotypes related to Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis:

(show all 15)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 behavioral abnormality hallmark (90%) HP:0000708
3 weight loss hallmark (90%) HP:0001824
4 migraine hallmark (90%) HP:0002076
5 encephalitis hallmark (90%) HP:0002383
6 lymphadenopathy hallmark (90%) HP:0002716
7 arthralgia hallmark (90%) HP:0002829
8 abnormality of temperature regulation hallmark (90%) HP:0004370
9 recurrent pharyngitis hallmark (90%) HP:0100776
10 arthritis occasional (7.5%) HP:0001369
11 splenomegaly occasional (7.5%) HP:0001744
12 nausea and vomiting occasional (7.5%) HP:0002017
13 malabsorption occasional (7.5%) HP:0002024
14 abdominal pain occasional (7.5%) HP:0002027
15 hepatomegaly occasional (7.5%) HP:0002240

UMLS symptoms related to Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis:


oropharyngeal spasm, pain of lymph node, oropharyngeal swelling, dysaesthesia pharynx, pharyngeal paraesthesia

Drugs & Therapeutics for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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Drugs for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1BifidobacteriumNutraceuticalPhase 2220
2ACIDOPHILUSNutraceuticalPhase 2502

Interventional clinical trials:

idNameStatusNCT IDPhase
1Probiotics and Corticosteroids for Treating Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA)Not yet recruitingNCT02535962Phase 2
2Ilaris (Canakinumab) in Patient With Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA)Not yet recruitingNCT02775994Phase 1
3Life Quality Study for PFAPA PatientRecruitingNCT02811705

Search NIH Clinical Center for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

Genetic Tests for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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Anatomical Context for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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MalaCards organs/tissues related to Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis:

34
Lymph node, Bone

Animal Models for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis or affiliated genes

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Publications for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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Articles related to Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis:

(show all 20)
idTitleAuthorsYear
1
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. (27343963)
2016
2
Tonsillar microbiota in children with PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and adenitis) syndrome. (27025724)
2016
3
Guidelines for the management and treatment of periodic fever syndromes: periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (27267334)
2016
4
Guidelines for the management and treatment of periodic fever syndromes: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (26498845)
2015
5
Treatment of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (25741809)
2015
6
Clinical and genetic characterization of Japanese sporadic cases of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome from a single medical center in Japan. (24760114)
2014
7
The enigma of periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (24642520)
2014
8
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome and IgA nephropathy. (22940910)
2013
9
On the road to discovery in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. (21810991)
2011
10
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. (21478439)
2011
11
Profile of blood cells and inflammatory mediators in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. (20819226)
2010
12
Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings. (19593600)
2009
13
Parapharyngeal abscess in a previously tonsillectomised child with periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome: first reported case. (18036284)
2008
14
Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome is not always successful. (18410791)
2008
15
Adult-onset periodic fever, aphthous stomatitis, pharyngitis, and adenitis. (18320921)
2008
16
Colchicine prophylaxis for frequent periodic fever, aphthous stomatitis, pharyngitis and adenitis episodes. (18462461)
2008
17
A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. (17719940)
2007
18
Tumor necrosis factor receptor-associated periodic syndrome in a young adult who had features of periodic fever, aphthous stomatitis, pharyngitis, and adenitis as a child. (15689926)
2005
19
Highly suspected case of FAPA (periodic fever, aphthous stomatitis, pharyngitis and adenitis) syndrome. (11208014)
2001
20
Syndrome of Periodic Fever, Aphthous stomatitis, Pharyngitis, and Adenitis (PFAPA)--what it isn't. What is it? (10393593)
1999

Variations for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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Expression for genes affiliated with Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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Search GEO for disease gene expression data for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis.

Pathways for genes affiliated with Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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GO Terms for genes affiliated with Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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Sources for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet