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:
45NIH Rare Diseases, 65UMLS, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

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

Name: Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis 45
Marshall Syndrome 45 65
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome 65
Periodic Fever-Aphtous Stomatitis-Pharyngitis-Adenopathy Syndrome 51
 
Marshall Syndrome with Periodic Fever 51
Pfapa Syndrome 51
Pfapa 45

Characteristics:

Orphanet epidemiological data:

51
periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome:
Age of onset: Childhood,Infancy; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 42642
ICD10 via Orphanet28 E85.0
UMLS65 C0265235, C2938935

Summaries for Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis

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NIH Rare Diseases:45 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 schizophrenia, and has symptoms including abnormality of the oral cavity, behavioral abnormality and weight loss. Affiliated tissues include lymph node, liver 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:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1marshall syndrome12.6
2schizophrenia10.5
3asthma10.5
4acrodermatitis enteropathica10.5
5pancreatic cancer10.5
6breast reconstruction10.5
7neonatal respiratory failure10.5
8respiratory failure10.5
9acrodermatitis10.5
10periodontal disease10.5
11pancreatitis10.5
12periodontitis10.5
13allergic asthma10.5
14dextrocardia10.5
15enteropathica10.5
16monomelic amyotrophy10.5
17intellectual disability10.5
18obesity10.1
19hemophagocytic lymphohistiocytosis10.1
20keratoconus10.1
21photosensitive epilepsy10.1
22intracranial aneurysm10.1
23quadriplegia10.1
24cholestasis10.1
25intrahepatic cholestasis10.1
26ovarian cancer10.1
27hemarthrosis10.1
28herpes zoster10.1
29herpes zoster ophthalmicus10.1
30microscopic polyangiitis10.1
31aneurysm10.1
32angiomatosis10.1
33endotheliitis10.1

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:

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1BifidobacteriumNutraceuticalPhase 2213
2AcidophilusNutraceuticalPhase 2482

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

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:

33
Lymph node, Liver, Bone, Breast

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 17)
idTitleAuthorsYear
1
Retinoic acid and glycolic acid combination in the treatment of acne scars. (25821727)
2015
2
Effect of aging on the prognosis of Bell's palsy. (23370572)
2013
3
Rosai-Dorfman disease-like changes in mesenteric lymph nodes secondary to Salmonella infection. (21447134)
2011
4
MUC2 expression in human middle ear epithelium of patients with otitis media. (18209134)
2008
5
Cytokeratin KRT8/18 expression differentiates distinct subtypes of grade 3 invasive ductal carcinoma of the breast. (17954264)
2007
6
CYP2D6 polymorphism: implications for antipsychotic drug response, schizophrenia and personality traits. (18034624)
2007
7
Consistency checks for characterizing protein forms. (12798037)
2003
8
NKG2D receptors induced by IL-15 costimulate CD28-negative effector CTL in the tissue microenvironment. (11698420)
2001
9
Influence of self-etching primer on the resin adhesion to enamel and dentin. (11699738)
2001
10
Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases. (11345203)
2001
11
Role of stress responses in human cell survival following exposure to ultraviolet C radiation. (11258851)
2001
12
Visual recovery in two patients after intravenous methylprednisolone treatment of central retinal artery occlusion secondary to giant-cell arteritis. (1741143)
1992
13
Hyperphosphatemia as a detectable laboratory manifestation of glucocorticoid withdrawal syndrome. (3508717)
1986
14
Citrullinemia: investigation and treatment over a four-year period. (4842795)
1974
15
5-Fluorouracil in the treatment of actinic keratosis. (18730420)
1970
16
RECURRENT NON-OBSTRUCTIVE PAROTITIS. (14220319)
1964
17
MALLORY-WEISS SYNDROME AND HYPOFIBRINOGENEMIA. COMPLICATION DURING SURGERY. (14198807)
1964

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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet