MCID: PRD012
MIFTS: 29

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

Categories: Rare diseases, Bone diseases

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

MalaCards integrated aliases for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis:

Name: Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 49
Marshall Syndrome 49 69
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome 55
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy 28
Marshall Syndrome with Periodic Fever 55
Pfapa Syndrome 55
Pfapa 49

Characteristics:

Orphanet epidemiological data:

55
pfapa syndrome
Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 55 ORPHA42642
UMLS via Orphanet 70 C2938935
ICD10 via Orphanet 33 E85.0
UMLS 69 C0265235

Summaries for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

NIH Rare Diseases : 49 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 marshall syndrome and pharyngitis, and has symptoms including abnormality of the oral cavity, behavioral abnormality and arthritis. 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

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 marshall syndrome 12.5
2 pharyngitis 10.9
3 stomatitis 10.9
4 aphthous stomatitis 10.9
5 periodic fever, familial, autosomal dominant 10.2
6 blood group, i system 9.7
7 branchiootic syndrome 1 9.7
8 cutis laxa 9.7
9 syphilis 9.7
10 congenital syphilis 9.7
11 skeletal dysplasias 9.7
12 acquired cutis laxa 9.7

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:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the oral cavity 55 31 hallmark (90%) Very frequent (99-80%) HP:0000163
2 behavioral abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0000708
3 arthritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001369
4 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
5 weight loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0001824
6 nausea and vomiting 55 31 occasional (7.5%) Occasional (29-5%) HP:0002017
7 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
8 abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002027
9 migraine 55 31 hallmark (90%) Very frequent (99-80%) HP:0002076
10 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
11 encephalitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002383
12 lymphadenopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002716
13 arthralgia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002829
14 abnormality of temperature regulation 55 31 hallmark (90%) Very frequent (99-80%) HP:0004370
15 fatigue 55 31 frequent (33%) Frequent (79-30%) HP:0012378
16 recurrent pharyngitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100776

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Probiotics and Corticosteroids for Treating Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Withdrawn NCT02535962 Phase 2
2 Life Quality Study for PFAPA Patient Recruiting NCT02811705
3 Tonsillotomy or Follow-up in PFAPA Syndrome Recruiting NCT03331497

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:

# Genetic test Affiliating Genes
1 Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy 28

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

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

38
Lymph Node, Bone

Publications for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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

(show all 22)
# Title Authors Year
1
A case of adult-onset periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome in Japan. ( 29264037 )
2017
2
Guidelines for the management and treatment of periodic fever syndromes: periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. ( 27267334 )
2016
3
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. ( 27343963 )
2016
4
Tonsillar microbiota in children with PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and adenitis) syndrome. ( 27025724 )
2016
5
Long-Term Outcome of Classic and Incomplete PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis) Syndrome after Tonsillectomy. ( 27692464 )
2016
6
Guidelines for the management and treatment of periodic fever syndromes: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. ( 26498845 )
2015
7
Treatment of periodic Fever, aphthous stomatitis, pharyngitis and adenitis syndrome. ( 25741809 )
2015
8
The enigma of periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome. ( 24642520 )
2014
9
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
10
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome and IgA nephropathy. ( 22940910 )
2013
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
On the road to discovery in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. ( 21810991 )
2011
13
Profile of blood cells and inflammatory mediators in periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. ( 20819226 )
2010
14
Syndrome of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) in siblings. ( 19593600 )
2009
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
Adult-onset periodic fever, aphthous stomatitis, pharyngitis, and adenitis. ( 18320921 )
2008
19
A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. ( 17719940 )
2007
20
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
21
Highly suspected case of FAPA (periodic fever, aphthous stomatitis, pharyngitis and adenitis) syndrome. ( 11208014 )
2001
22
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
# 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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