PFAPA
MCID: PRD012
MIFTS: 27

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) malady

Rare diseases, Bone diseases, Blood diseases categories
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Summaries for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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NIH Rare Diseases:42 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 enanthema/aphtosa/aphta/leukoplakia, pharyngitis and lymphadenopathy/polyadenopathies. Affiliated tissues include lymph node, bone and liver.

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

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Sources:
42NIH Rare Diseases, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis, Aliases & Descriptions:

Name: Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 42
Marshall Syndrome 42 62
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome 48
 
Marshall Syndrome with Periodic Fever 48
Pfapa Syndrome 48
Pfapa 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Bone diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome:
Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


External Ids:

ICD10 via Orphanet26 E85.0

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/GeneDecks gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1pharyngitis11.2
2aphthous stomatitis11.2
3stomatitis11.2
4marshall syndrome10.8
5cervical adenitis10.5
6cervicitis10.5
7cutis laxa10.1
8congenital syphilis10.1
9syphilis10.1
10skeletal dysplasias10.1
11acquired cutis laxa10.1
12autoimmune hepatitis10.0
13glomerulonephritis10.0
14hepatitis10.0
15kawasaki disease10.0
16proliferative glomerulonephritis10.0
17tonsillitis10.0
18conjunctivitis10.0
19encephalitis10.0
20pityriasis lichenoides10.0
21pityriasis lichenoides et varioliformis acuta10.0

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:

48 (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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Drug clinical trials:

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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:

32
Lymph node, Bone, Liver

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 15)
idTitleAuthorsYear
1
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
2
The enigma of periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. (24642520)
2014
3
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome and IgA nephropathy. (22940910)
2013
4
On the road to discovery in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. (21810991)
2011
5
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. (21478439)
2011
6
Profile of blood cells and inflammatory mediators in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. (20819226)
2010
7
Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings. (19593600)
2009
8
Parapharyngeal abscess in a previously tonsillectomised child with periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome: first reported case. (18036284)
2008
9
Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome is not always successful. (18410791)
2008
10
Adult-onset periodic fever, aphthous stomatitis, pharyngitis, and adenitis. (18320921)
2008
11
Colchicine prophylaxis for frequent periodic fever, aphthous stomatitis, pharyngitis and adenitis episodes. (18462461)
2008
12
A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. (17719940)
2007
13
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
14
Highly suspected case of FAPA (periodic fever, aphthous stomatitis, pharyngitis and adenitis) syndrome. (11208014)
2001
15
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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Compounds 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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Products 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet