{"Name":"PFAPA syndrome","DiseaseID__c":"GARD:0005657","id":5657,"encodedName":"pfapa-syndrome","IsDeleted":false,"Disease_Name_Full__c":"PFAPA syndrome","Xref_IDs__c":"717231003; C116917; C4082167; DOID:0081451; MEDGEN:909507; MONDO:0018540; ORPHA:42642","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018540","Disease_Description__c":"PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis.","GARD_Name__c":"PFAPA syndrome","GARD_Synonym__c":"marshall syndrome with periodic fever; periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome; periodic fever-aphtous stomatitis-pharyngitis-adenopathy; periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome; periodic fever, aphthous stomatitis, pharyngitis and adenitis; periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome; pfapa","Curated_Disease_Description_Source__c":"GARD:0005657","Curated_Disease_Description__c":"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 is sporadic and non-hereditary.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:42642","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018540","ORPHANET_ID__c":"ORPHA:42642","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome pfapa","Spanish_Description_Source__c":"ORPHA:42642","Spanish_Description__c":"El síndrome PFAPA (fiebre periódica - estomatitis aftosa - faringitis - adenopatía) es un síndrome autoinflamatorio caracterizado por episodios febriles recurrentes asociados a estomatitis aftosa, faringitis y adenitis cervical.","Spanish_Disease_Name__c":"síndrome pfapa","Spanish_GARD_Synonym__c":"síndrome de fiebre periódica-estomatitis aftosa-faringitis-adenopatía; síndrome de marshall con fiebre periódica","Category_Linearization__c":"ORPHA:98004","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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 is sporadic and non-hereditary.","Curated_Disease_Description_Source__c":"GARD:0005657","GARD_Synonym__c":"marshall syndrome with periodic fever; periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome; periodic fever-aphtous stomatitis-pharyngitis-adenopathy; periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome; periodic fever, aphthous stomatitis, pharyngitis and adenitis; periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome; pfapa","Name":"PFAPA syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.org/"},{"Account_Name__c":"FMF ESPAÑA","Website__c":"https://www.fmfspain.com/"},{"Account_Name__c":"Autoinflammatory Alliance","Website__c":"https://www.autoinflammatory.org/"},{"Account_Name__c":"FMF & AID Global Association","Website__c":"https://www.fmfandaid.org/"},{"Account_Name__c":"Rare Autoinflammatory Conditions Community - UK","Website__c":"https://www.raccuk.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:42642"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:42642"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C4082167"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C116917","Source__c":"C4082167; MONDO:0018540","Xref__c":"C116917"},{"URL__c":"https://www.orpha.net/en/disease/detail/42642","Source__c":"C4082167; MONDO:0018540; ORPHA:42642","Xref__c":"ORPHA:42642"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4082167","Source__c":"C4082167","Xref__c":"C4082167"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081451","Source__c":"MONDO:0018540","Xref__c":"DOID:0081451"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=909507","Source__c":"C4082167","Xref__c":"MEDGEN:909507"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717231003","Source__c":"C4082167; MONDO:0018540","Xref__c":"717231003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018540","Source__c":"GARD:0005657","Xref__c":"MONDO:0018540"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011107","HPO_Synonym__c":"Recurrent canker sores; Recurrent oral aphthae","HPO_Name__c":"Recurrent aphthous stomatitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000163","HPO_Synonym__c":"Abnormality of the oral cavity","HPO_Name__c":"Abnormal oral cavity morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012514","HPO_Synonym__c":"Leg pain; Lower limb pain","HPO_Name__c":"Lower limb pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002383","HPO_Synonym__c":"Brain inflammation","HPO_Name__c":"Infectious encephalitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100776","HPO_Synonym__c":"Pharyngitis, recurrent; Recurrent sore throat","HPO_Name__c":"Recurrent pharyngitis","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Habitual flow of saliva out of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002307","HPO_Synonym__c":"Dribbling; Drooling; Sialorrhea","HPO_Name__c":"Drooling","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of temperature homeostasis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004370","HPO_Synonym__c":"Abnormality of temperature regulation; Impaired temperature control; Impaired temperature regulation; Inability to control temperature; Inability to regulate temperature; Poor control of temperature; Poor regulation of temperature; Poor temperature control; Poor temperature regulation; Unable to control temperature","HPO_Name__c":"Abnormality of temperature regulation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Episodic fever that recurs at regular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032323","HPO_Name__c":"Periodic fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002840","HPO_Synonym__c":"Inflammation of the lymph nodes","HPO_Name__c":"Lymphadenitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation (due to infection or irritation) of the pharynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025439","HPO_Name__c":"Pharyngitis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlarged lymph nodes in the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025289","HPO_Synonym__c":"Swollen lymph nodes in the neck","HPO_Name__c":"Cervical lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:42642","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011110","HPO_Synonym__c":"Recurrent inflammation of tonsils","HPO_Name__c":"Recurrent tonsillitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology","Pediatrics"]},"synonyms":["marshall syndrome with periodic fever"," periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome"," periodic fever-aphtous stomatitis-pharyngitis-adenopathy"," periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome"," periodic fever, aphthous stomatitis, pharyngitis and adenitis"," periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome"," pfapa"]}