MCID: PRD012
MIFTS: 28

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:
45NIH Rare Diseases, 65UMLS, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

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

Name: Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 45
Marshall Syndrome 45 65
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome 65
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome 51
 
Marshall Syndrome with Periodic Fever 51
Pfapa Syndrome 51
Pfapa 45

Characteristics:

Orphanet epidemiological data:

51
periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome:
Age of onset: Childhood,Infancy; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 42642
ICD10 via Orphanet28 E85.0
UMLS65 C0265235, C2938935

Summaries for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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NIH Rare Diseases:45 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, bone and liver.

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:

 51 (show all 18)
  • enanthema/aphtosa/aphta/leukoplakia
  • pharyngitis
  • lymphadenopathy/polyadenopathies
  • facial pain/cephalalgia/migraine
  • encephalitis
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • articular/joint pain/arthralgia
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • fever/chilling
  • asthenia/fatigue/weakness
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • malabsorption/chronic diarrhea/steatorrhea
  • intestinal perforation
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • arthritis/synovitis/synovial proliferation
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp

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:


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

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 2213
2AcidophilusNutraceuticalPhase 2482

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

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:

33
Lymph node, Bone, Liver, Breast, Endothelial

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 18)
idTitleAuthorsYear
1
Tonsillar microbiota in children with PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and adenitis) syndrome. (27025724)
2016
2
Guidelines for the management and treatment of periodic fever syndromes: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (26498845)
2015
3
Treatment of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (25741809)
2015
4
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
5
The enigma of periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (24642520)
2014
6
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome and IgA nephropathy. (22940910)
2013
7
On the road to discovery in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. (21810991)
2011
8
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. (21478439)
2011
9
Profile of blood cells and inflammatory mediators in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. (20819226)
2010
10
Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings. (19593600)
2009
11
Parapharyngeal abscess in a previously tonsillectomised child with periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome: first reported case. (18036284)
2008
12
Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome is not always successful. (18410791)
2008
13
Adult-onset periodic fever, aphthous stomatitis, pharyngitis, and adenitis. (18320921)
2008
14
Colchicine prophylaxis for frequent periodic fever, aphthous stomatitis, pharyngitis and adenitis episodes. (18462461)
2008
15
A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. (17719940)
2007
16
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
17
Highly suspected case of FAPA (periodic fever, aphthous stomatitis, pharyngitis and adenitis) syndrome. (11208014)
2001
18
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet