{"Name":"Paroxysmal cold hemoglobinuria","DiseaseID__c":"GARD:0007335","id":7335,"encodedName":"paroxysmal-cold-hemoglobinuria","IsDeleted":false,"Disease_Name_Full__c":"Paroxysmal cold hemoglobinuria","Xref_IDs__c":"127057004; C0086774; MEDGEN:39693; MONDO:0019533; ORPHA:90035","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019533","Disease_Description__c":"Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.","GARD_Name__c":"Paroxysmal cold hemoglobinuria","GARD_Synonym__c":"cold agglutinin hemoglobinuria; cold donath landsteiner type autoimmune hemolytic anemia; cold hemoglobinuria; donath-landsteiner hemolytic anaemia; donath-landsteiner hemolytic anemia; donath-landsteiner syndrome; pch; pch - paroxysmal cold hemoglobinuria","Curated_Disease_Description_Source__c":"MONDO:0019533","Curated_Disease_Description__c":"Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:90035","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019533","ORPHANET_ID__c":"ORPHA:90035","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemoglobinuria paroxística por frío","Spanish_Description_Source__c":"ORPHA:90035","Spanish_Description__c":"La hemoglobinuria paroxística por frío (PCH) es un tipo muy raro de anemia hemolítica autoinmune (AIHA, consulte este término), causada por la presencia en sangre de autoanticuerpos activados por frío y caracterizada por la presencia repentina de hemoglobinuria, normalmente tras una exposición a temperaturas bajas.","Spanish_Disease_Name__c":"hemoglobinuria paroxística por frío","Spanish_GARD_Synonym__c":"anemia hemolítica de donath-landsteiner; síndrome de donath-landsteiner","Category_Linearization__c":"ORPHA:97992","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":"Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA, see this term), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures.","Curated_Disease_Description_Source__c":"MONDO:0019533","GARD_Synonym__c":"cold agglutinin hemoglobinuria; cold donath landsteiner type autoimmune hemolytic anemia; cold hemoglobinuria; donath-landsteiner hemolytic anaemia; donath-landsteiner hemolytic anemia; donath-landsteiner syndrome; pch; pch - paroxysmal cold hemoglobinuria","Name":"Paroxysmal cold hemoglobinuria","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:90035"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/90035","Source__c":"C0086774; MONDO:0019533; ORPHA:90035","Xref__c":"ORPHA:90035"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0086774","Source__c":"C0086774","Xref__c":"C0086774"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=127057004","Source__c":"C0086774; MONDO:0019533","Xref__c":"127057004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=39693","Source__c":"C0086774","Xref__c":"MEDGEN:39693"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019533","Source__c":"GARD:0007335","Xref__c":"MONDO:0019533"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90035","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:90035","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012086","HPO_Synonym__c":"Abnormal urinary color; Abnormal urine color","HPO_Name__c":"Abnormal urinary color","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002205","HPO_Synonym__c":"Frequent respiratory infections; Multiple respiratory infections; Recurrent respiratory infections; respiratory infections, recurrent; Susceptibility to respiratory infections","HPO_Name__c":"Recurrent respiratory infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An autoimmune form of hemolytic anemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001890","HPO_Synonym__c":"Autoimmune haemolytic anemia; Hemolytic anemia, autoimmune","HPO_Name__c":"Autoimmune hemolytic anemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90035","HPO_Frequency__c":"Very frequent (80-99%)","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:90035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of free hemoglobin in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003641","HPO_Synonym__c":"Hemoglobin in urine","HPO_Name__c":"Hemoglobinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:90035","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hemolytic anemia in which the Coombs test is positive.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004844","HPO_Synonym__c":"Direct Coombs positive","HPO_Name__c":"Coombs-positive hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90035","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"}}],"tags":{"Disease Category":["Hematology"],"Specialist":["Hematology","Pediatrics"]},"synonyms":["cold agglutinin hemoglobinuria"," cold donath landsteiner type autoimmune hemolytic anemia"," cold hemoglobinuria"," donath-landsteiner hemolytic anaemia"," donath-landsteiner hemolytic anemia"," donath-landsteiner syndrome"," pch"," pch - paroxysmal cold hemoglobinuria"]}