{"Name":"Familial cold autoinflammatory syndrome 2","DiseaseID__c":"GARD:0017201","id":17201,"encodedName":"familial-cold-autoinflammatory-syndrome-2","IsDeleted":false,"Disease_Name_Full__c":"Familial cold autoinflammatory syndrome 2","Xref_IDs__c":"C119043; C2673198; C567090; DOID:0090063; MEDGEN:435869; MONDO:0012724; OMIM:611762; ORPHA:247868","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012724","Disease_Description__c":"An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.","GARD_Name__c":"Familial cold autoinflammatory syndrome 2","GARD_Synonym__c":"familial cold autoinflammatory syndrome caused by mutation in nlrp12; familial cold autoinflammatory syndrome type 2; fcas2; fcas2 - familial cold autoinflammatory syndrome type 2; nalp12-associated hereditary periodic fever syndrome; naps12; nlr family pyrin domain containing 12-associated hereditary periodic fever syndrome; nlrp12 familial cold autoinflammatory syndrome; nlrp12-associated hereditary periodic fever syndrome","Curated_Disease_Description_Source__c":"ORPHA:247868","Curated_Disease_Description__c":"NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:247868","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012724","ORPHANET_ID__c":"ORPHA:247868","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de fiebre periódica hereditaria asociada a nlrp12","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de fiebre periódica hereditaria asociada a nlrp12","Spanish_GARD_Synonym__c":"fcas2; naps12; síndrome autoinflamatorio familiar por frío 2","Category_Linearization__c":"ORPHA:98023","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":"NLRP12-associated hereditary periodic fever syndrome is a rare autoinflammatory syndrome characterized by episodic and recurrent periods of fever combined with various systemic manifestations such as myalgia, arthralgia, joint swelling, urticaria, headache and skin rash. Common trigger of these episodes is cold.","Curated_Disease_Description_Source__c":"ORPHA:247868","GARD_Synonym__c":"familial cold autoinflammatory syndrome caused by mutation in nlrp12; familial cold autoinflammatory syndrome type 2; fcas2; fcas2 - familial cold autoinflammatory syndrome type 2; nalp12-associated hereditary periodic fever syndrome; naps12; nlr family pyrin domain containing 12-associated hereditary periodic fever syndrome; nlrp12 familial cold autoinflammatory syndrome; nlrp12-associated hereditary periodic fever syndrome","Name":"Familial cold autoinflammatory syndrome 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Autoinflammatory Alliance","Website__c":"https://www.autoinflammatory.org/"},{"Account_Name__c":"The International Foundation for Autoimmune & Autoinflammatory Arthritis","Website__c":"https://www.aiarthritis.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:247868"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:247868"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/611762","Source__c":"C2673198; MONDO:0012724; ORPHA:247868","Xref__c":"OMIM:611762"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567090","Source__c":"MONDO:0012724","Xref__c":"C567090"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2673198","Source__c":"C2673198","Xref__c":"C2673198"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090063","Source__c":"MONDO:0012724","Xref__c":"DOID:0090063"},{"URL__c":"https://www.orpha.net/en/disease/detail/247868","Source__c":"C2673198; MONDO:0012724; ORPHA:247868","Xref__c":"ORPHA:247868"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=435869","Source__c":"C2673198","Xref__c":"MEDGEN:435869"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C119043","Source__c":"C2673198; MONDO:0012724","Xref__c":"C119043"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783146009","Source__c":"C2673198","Xref__c":"783146009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012724","Source__c":"GARD:0017201","Xref__c":"MONDO:0012724"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-cold-autoinflammatory-syndrome-type-2"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NLRP12","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nlrp12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:611762","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":"OMIM:611762","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611762","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033050","HPO_Synonym__c":"Pharyngodynia; Sore throat; Throat discomfort; Throat pain","HPO_Name__c":"Pharyngalgia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:611762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611762","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:611762","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001025","HPO_Synonym__c":"Hives","HPO_Name__c":"Urticaria","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611762","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":"OMIM:611762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003565","HPO_Synonym__c":"Elevated ESR; Elevated sedimentation rate; High erythrocyte sedimentation rate; High ESR; Increased erythrocyte sedimentation rate; Raised erythrocyte sedimentation rate","HPO_Name__c":"Elevated erythrocyte sedimentation rate","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:611762","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012219","HPO_Name__c":"Erythema nodosum","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611762","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:611762","Feature__r":{"HPO_Description__c":"Periodic (episodic or recurrent) bouts of fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001954","HPO_Synonym__c":"Episodic fever; Hyperthermia, episodic; Increased body temperature, episodic; Intermittent fever","HPO_Name__c":"Recurrent fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:611762","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:611762","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":"OMIM:611762","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":"OMIM:611762","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":"OMIM:611762","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Rheumatology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["familial cold autoinflammatory syndrome caused by mutation in nlrp12"," familial cold autoinflammatory syndrome type 2"," fcas2"," fcas2 - familial cold autoinflammatory syndrome type 2"," nalp12-associated hereditary periodic fever syndrome"," naps12"," nlr family pyrin domain containing 12-associated hereditary periodic fever syndrome"," nlrp12 familial cold autoinflammatory syndrome"," nlrp12-associated hereditary periodic fever syndrome"]}