PFAPA
MCID: PRD012
MIFTS: 16

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

Rare diseases category

Summaries for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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: Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis, also known as marshall syndrome, is related to pharyngitis and aphthous stomatitis. Affiliated tissues include lymph node.

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

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Aliases & Descriptions:

periodic fever, aphthous stomatitis, pharyngitis and adenitis 44
marshall syndrome 44 63
pfapa 44


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 22)
idRelated DiseaseScoreTop Affiliating Genes
1pharyngitis11.2
2aphthous stomatitis11.2
3stomatitis11.2
4marshall syndrome10.8
5cervical adenitis10.5
6cervicitis10.5
7marshall syndrome with periodic fever10.2
8cutis laxa10.0
9congenital syphilis10.0
10syphilis10.0
11skeletal dysplasias10.0
12acquired cutis laxa10.0
13autoimmune hepatitis10.0
14tonsillitis10.0
15proliferative glomerulonephritis10.0
16kawasaki disease10.0
17conjunctivitis10.0
18encephalitis10.0
19glomerulonephritis10.0
20hepatitis10.0
21pityriasis lichenoides10.0
22pityriasis 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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Drugs & Therapeutics for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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:

34
Lymph node

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 13)
idTitleAuthorsYear
1
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome and IgA nephropathy. (22940910)
2013
2
On the road to discovery in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. (21810991)
2011
3
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. (21478439)
2011
4
Profile of blood cells and inflammatory mediators in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. (20819226)
2010
5
Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings. (19593600)
2009
6
Parapharyngeal abscess in a previously tonsillectomised child with periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome: first reported case. (18036284)
2008
7
Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome is not always successful. (18410791)
2008
8
Adult-onset periodic fever, aphthous stomatitis, pharyngitis, and adenitis. (18320921)
2008
9
Colchicine prophylaxis for frequent periodic fever, aphthous stomatitis, pharyngitis and adenitis episodes. (18462461)
2008
10
A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. (17719940)
2007
11
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
12
Highly suspected case of FAPA (periodic fever, aphthous stomatitis, pharyngitis and adenitis) syndrome. (11208014)
2001
13
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:

1
id Gene Name Type Significance SNP ID Assembly Location
1COL11A1NM_080629.2(COL11A1): c.3852+1G> Asingle nucleotide variantPathogenicrs398122828GRCh37Chr 1, 103381186: 103381186

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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