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:
30ICD10 via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS
See all MalaCards sources

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

Name: Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 47
Marshall Syndrome 47 67
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome 53
 
Marshall Syndrome with Periodic Fever 53
Pfapa Syndrome 53
Pfapa 47

Characteristics:

Orphanet epidemiological data:

53
periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome:
Age of onset: Childhood,Infancy; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet53 ORPHA42642
ICD10 via Orphanet30 E85.0

Summaries for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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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. An important gene associated with Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis is COL11A1 (Collagen Type XI Alpha 1 Chain). 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
2pharyngitis10.8
3stomatitis10.8
4aphthous stomatitis10.8
5cutis laxa9.6
6syphilis9.6
7congenital syphilis9.6
8skeletal dysplasias9.6
9skeletal dysplasia9.6
10acquired cutis laxa9.6

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

 63 53 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the oral cavity63 53 hallmark (90%) Very frequent (99-80%) HP:0000163
2 behavioral abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0000708
3 weight loss63 53 hallmark (90%) Very frequent (99-80%) HP:0001824
4 migraine63 53 hallmark (90%) Very frequent (99-80%) HP:0002076
5 encephalitis63 53 hallmark (90%) Very frequent (99-80%) HP:0002383
6 lymphadenopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0002716
7 arthralgia63 53 hallmark (90%) Very frequent (99-80%) HP:0002829
8 abnormality of temperature regulation63 53 hallmark (90%) Very frequent (99-80%) HP:0004370
9 recurrent pharyngitis63 53 hallmark (90%) Very frequent (99-80%) HP:0100776
10 arthritis63 53 occasional (7.5%) Occasional (29-5%) HP:0001369
11 splenomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0001744
12 nausea and vomiting63 53 occasional (7.5%) Occasional (29-5%) HP:0002017
13 malabsorption63 53 occasional (7.5%) Occasional (29-5%) HP:0002024
14 abdominal pain63 53 occasional (7.5%) Occasional (29-5%) HP:0002027
15 hepatomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0002240
16 fatigue53 Frequent (79-30%)

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
1AcidophilusNutraceuticalPhase 2518
2BifidobacteriumNutraceuticalPhase 2230
3ImmunoglobulinsPhase 16045
4AntibodiesPhase 16045
5Antibodies, MonoclonalPhase 13795

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:

35
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 21)
idTitleAuthorsYear
1
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. (27343963)
2016
2
Long-Term Outcome of Classic and Incomplete PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis) Syndrome after Tonsillectomy. (27692464)
2016
3
Tonsillar microbiota in children with PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and adenitis) syndrome. (27025724)
2016
4
Guidelines for the management and treatment of periodic fever syndromes: periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (27267334)
2016
5
Guidelines for the management and treatment of periodic fever syndromes: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (26498845)
2015
6
Treatment of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (25741809)
2015
7
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
8
The enigma of periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (24642520)
2014
9
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome and IgA nephropathy. (22940910)
2013
10
On the road to discovery in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. (21810991)
2011
11
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. (21478439)
2011
12
Profile of blood cells and inflammatory mediators in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. (20819226)
2010
13
Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings. (19593600)
2009
14
Parapharyngeal abscess in a previously tonsillectomised child with periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome: first reported case. (18036284)
2008
15
Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome is not always successful. (18410791)
2008
16
Adult-onset periodic fever, aphthous stomatitis, pharyngitis, and adenitis. (18320921)
2008
17
Colchicine prophylaxis for frequent periodic fever, aphthous stomatitis, pharyngitis and adenitis episodes. (18462461)
2008
18
A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. (17719940)
2007
19
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
20
Highly suspected case of FAPA (periodic fever, aphthous stomatitis, pharyngitis and adenitis) syndrome. (11208014)
2001
21
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
1COL11A1NM_080629.2(COL11A1): c.3204+1G> TSNVPathogenicrs886042653GRCh37Chr 1, 103427421: 103427421

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet