PFAPA
MCID: PRD012
MIFTS: 27

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

Categories: Rare diseases, Bone diseases

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

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

Name: Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 50
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome 56 29
Marshall Syndrome 50 69
Marshall Syndrome with Periodic Fever 56
Pfapa Syndrome 56
Pfapa 50

Characteristics:

Orphanet epidemiological data:

56
pfapa syndrome
Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 56 ORPHA42642
ICD10 via Orphanet 34 E85.0

Summaries for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

NIH Rare Diseases : 50 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 periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome, is related to marshall syndrome and pharyngitis, and has symptoms including arthralgia, fatigue and abdominal pain. An important gene associated with Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis is COL11A1 (Collagen Type XI Alpha 1 Chain). The drugs Acidophilus and Bifidobacterium have been mentioned in the context of this disorder. Affiliated tissues include lymph node and bone.

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

Diseases related to Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 marshall syndrome 12.4
2 pharyngitis 10.8
3 stomatitis 10.8
4 aphthous stomatitis 10.8
5 cutis laxa 9.6
6 syphilis 9.6
7 congenital syphilis 9.6
8 skeletal dysplasias 9.6
9 skeletal dysplasia 9.6
10 acquired cutis laxa 9.6

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 & Phenotypes for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Very frequent (99-80%) HP:0002829
2 fatigue 56 32 Frequent (79-30%) HP:0012378
3 abdominal pain 56 32 Occasional (29-5%) HP:0002027
4 nausea and vomiting 56 32 Occasional (29-5%) HP:0002017
5 recurrent pharyngitis 56 32 Very frequent (99-80%) HP:0100776
6 encephalitis 56 32 Very frequent (99-80%) HP:0002383
7 behavioral abnormality 56 32 Very frequent (99-80%) HP:0000708
8 arthritis 56 32 Occasional (29-5%) HP:0001369
9 splenomegaly 56 32 Occasional (29-5%) HP:0001744
10 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
11 malabsorption 56 32 Occasional (29-5%) HP:0002024
12 weight loss 56 32 Very frequent (99-80%) HP:0001824
13 abnormality of temperature regulation 56 32 Very frequent (99-80%) HP:0004370
14 migraine 56 32 Very frequent (99-80%) HP:0002076
15 lymphadenopathy 56 32 Very frequent (99-80%) HP:0002716
16 abnormality of the oral cavity 56 32 Very frequent (99-80%) HP:0000163

Drugs & Therapeutics for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

Drugs for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Acidophilus Nutraceutical Phase 2
2 Bifidobacterium Nutraceutical Phase 2
3 Immunoglobulins Phase 1
4 Antibodies, Monoclonal Phase 1
5 Antibodies Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Probiotics and Corticosteroids for Treating Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Not yet recruiting NCT02535962 Phase 2
2 Ilaris (Canakinumab) in Patient With Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) Not yet recruiting NCT02775994 Phase 1
3 Life Quality Study for PFAPA Patient Recruiting NCT02811705

Search NIH Clinical Center for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

Genetic Tests for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

Genetic tests related to Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis:

id Genetic test Affiliating Genes
1 Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy 29

Anatomical Context for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

MalaCards organs/tissues related to Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis:

39
Lymph Node, Bone

Publications for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

Articles related to Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis:

(show all 21)
id Title Authors Year
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. ( 27267334 )
2016
3
Long-Term Outcome of Classic and Incomplete PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis) Syndrome after Tonsillectomy. ( 27692464 )
2016
4
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. ( 27343963 )
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
The enigma of periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. ( 24642520 )
2014
8
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
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
Adult-onset periodic fever, aphthous stomatitis, pharyngitis, and adenitis. ( 18320921 )
2008
15
Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome is not always successful. ( 18410791 )
2008
16
Parapharyngeal abscess in a previously tonsillectomised child with periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome: first reported case. ( 18036284 )
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

ClinVar genetic disease variations for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL11A1 COL11A1, 4-BP DEL, EX50/IVS50 deletion Pathogenic
2 COL11A1 COL11A1, 1-BP INS, 3816T insertion Pathogenic
3 COL11A1 NM_080629.2(COL11A1): c.3852+1G> A single nucleotide variant Pathogenic rs398122828 GRCh37 Chromosome 1, 103381186: 103381186
4 COL11A1 NM_080629.2(COL11A1): c.3204+1G> T single nucleotide variant Pathogenic rs886042653 GRCh37 Chromosome 1, 103427421: 103427421

Expression for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

Search GEO for disease gene expression data for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis.

Pathways for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

GO Terms for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

Sources for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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