MCID: PRD012
MIFTS: 27

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis malady

Rare diseases, Bone diseases, Blood diseases categories

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 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-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome 51
Marshall Syndrome with Periodic Fever 51
 
Weaver Syndrome 65
Pfapa Syndrome 51
Pfapa 45


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 42642
ICD10 via Orphanet28 E85.0

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 pharyngitis and aphthous stomatitis, and has symptoms including abnormality of the oral cavity, behavioral abnormality and weight loss. An important gene associated with Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis is EZH2 (Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit). Affiliated tissues include lymph node, liver and bone.

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

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Graphical network of the top 20 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

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 2204
2AcidophilusNutraceuticalPhase 2444

Interventional clinical trials:

idNameStatusNCT IDPhase
1Probiotics and Corticosteroids for Treating Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA)Not yet recruitingNCT02535962Phase 2

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, Liver, 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 17)
idTitleAuthorsYear
1
Guidelines for the management and treatment of periodic fever syndromes: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (26498845)
2015
2
Treatment of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (25741809)
2015
3
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
4
The enigma of periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (24642520)
2014
5
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome and IgA nephropathy. (22940910)
2013
6
On the road to discovery in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. (21810991)
2011
7
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. (21478439)
2011
8
Profile of blood cells and inflammatory mediators in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. (20819226)
2010
9
Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings. (19593600)
2009
10
Parapharyngeal abscess in a previously tonsillectomised child with periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome: first reported case. (18036284)
2008
11
Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome is not always successful. (18410791)
2008
12
Adult-onset periodic fever, aphthous stomatitis, pharyngitis, and adenitis. (18320921)
2008
13
Colchicine prophylaxis for frequent periodic fever, aphthous stomatitis, pharyngitis and adenitis episodes. (18462461)
2008
14
A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. (17719940)
2007
15
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
16
Highly suspected case of FAPA (periodic fever, aphthous stomatitis, pharyngitis and adenitis) syndrome. (11208014)
2001
17
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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Clinvar genetic disease variations for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EZH2NM_004456.4(EZH2): c.1876G> A (p.Val626Met)single nucleotide variantPathogenicrs587783625GRCh37Chr 7, 148508788: 148508788
2EZH2NM_004456.4(EZH2): c.2050C> T (p.Arg684Cys)single nucleotide variantPathogenicrs587783626GRCh37Chr 7, 148506462: 148506462
3EZH2NM_004456.4(EZH2): c.458A> G (p.Tyr153Cys)single nucleotide variantPathogenicrs797044844GRCh37Chr 7, 148526846: 148526846
4EZH2NM_004456.4(EZH2): c.2187dupT (p.Asp730Terfs)duplicationPathogenicrs797045568GRCh37Chr 7, 148506171: 148506171
5EZH2EZH2, 3-BP DEL, NT457deletionPathogenic
6EZH2NM_004456.4(EZH2): c.2080C> T (p.His694Tyr)single nucleotide variantPathogenicrs193921147GRCh37Chr 7, 148506432: 148506432
7EZH2NM_004456.4(EZH2): c.394C> T (p.Pro132Ser)single nucleotide variantPathogenicrs193921148GRCh37Chr 7, 148526910: 148526910
8EZH2NM_004456.4(EZH2): c.2044G> A (p.Ala682Thr)single nucleotide variantPathogenicrs397515547GRCh37Chr 7, 148506468: 148506468
9EZH2NM_004456.4(EZH2): c.2233G> A (p.Glu745Lys)single nucleotide variantPathogenicrs397515548GRCh37Chr 7, 148504761: 148504761

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