{"Name":"Primary familial polycythemia due to EPO receptor mutation","DiseaseID__c":"GARD:0009843","id":9843,"encodedName":"primary-familial-polycythemia-due-to-epo-receptor-mutation","IsDeleted":false,"Disease_Name_Full__c":"Primary familial polycythemia due to EPO receptor mutation","Xref_IDs__c":"17342003; C4551637; DOID:0060652; MEDGEN:1641215; MONDO:0007572; OMIM:133100; ORPHA:90042","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007572","Disease_Description__c":"Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.","GARD_Name__c":"Primary familial polycythemia due to EPO receptor mutation","GARD_Synonym__c":"congenital erythrocytosis due to erythropoietin receptor mutation; congenital polycythemia due to erythropoietin receptor mutation; epor familial polycythemia; erythrocytosis, familial, 1; erythrocytosis, familial, type 1; erythrocytosis, somatic; familial erythrocytosis 1; familial erythrocytosis type 1; familial erythrocytosis, 1; familial polycythemia caused by mutation in epor; pfcp; polycythemia, primary familial and congenital; primary congenital erythrocytosis; primary familial and congenital polycythemia; primary familial congenital polycythemia; primary familial polycythemia","Curated_Disease_Description_Source__c":"GARD:0009843","Curated_Disease_Description__c":"Primary familial polycythemia (PFCP) is an inherited blood disease that causes uncontrolled production of red blood cells (erythrocytes). This leads to an increased volume of red blood cells compared to the total blood volume (erythrocytosis). It may also lead to increased total blood volume or increased blood thickness (hyperviscosity), both of which can cause symptoms. The disease is present at birth, but symptoms (if they develop) may arise any time during childhood or adulthood. Possible symptoms may include headaches, dizziness, fatigue, nosebleeds, difficulty breathing after physical activity, muscle pain, a reddish complexion, and altered mental status. Some people develop blood clots that can block various blood vessels, preventing adequate blood flow (thromboembolic events). Most people have mild symptoms, but some people experience life-threatening complications such as heart attack or stroke. The risk of thrombosis and severe complications increases with age. PFCP is diagnosed by blood tests detecting isolated erythrocytosis and low EPO levels, in the absence of spleen abnormalities and other underlying diseases that can cause erythrocytosis (such as certain blood diseases and blood cancers). PFCP is inherited in an autosomal dominant manner, but some people with PFCP have no relatives with the disease. In about 12-15% of people with PFCP, it is caused by genetic changes in the EPOR gene. However in most people, the genetic cause is not yet known.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:90042","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007572","ORPHANET_ID__c":"ORPHA:90042","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Policitemia primaria familiar","Spanish_Description_Source__c":"ORPHA:90042","Spanish_Description__c":"La policitemia primaria familiar es un trastorno hematológico hereditario, resultado de mutaciones en el receptor de la eritropoyetina (EPO), que se caracteriza por una elevada masa absoluta de glóbulos rojos causada por una producción incontrolada de glóbulos rojos en presencia de bajos niveles de EPO.","Spanish_Disease_Name__c":"policitemia primaria familiar","Spanish_GARD_Synonym__c":"eritrocitosis congénita por una mutación del receptor de la eritropoyetina; eritrocitosis familiar; policitemia congénita por una mutación del receptor de la eritropoyetina","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":"Primary familial polycythemia (PFCP) is an inherited blood disease that causes uncontrolled production of red blood cells (erythrocytes). This leads to an increased volume of red blood cells compared to the total blood volume (erythrocytosis). It may also lead to increased total blood volume or increased blood thickness (hyperviscosity), both of which can cause symptoms. The disease is present at birth, but symptoms (if they develop) may arise any time during childhood or adulthood. Possible symptoms may include headaches, dizziness, fatigue, nosebleeds, difficulty breathing after physical activity, muscle pain, a reddish complexion, and altered mental status. Some people develop blood clots that can block various blood vessels, preventing adequate blood flow (thromboembolic events). Most people have mild symptoms, but some people experience life-threatening complications such as heart attack or stroke. The risk of thrombosis and severe complications increases with age. PFCP is diagnosed by blood tests detecting isolated erythrocytosis and low EPO levels, in the absence of spleen abnormalities and other underlying diseases that can cause erythrocytosis (such as certain blood diseases and blood cancers). PFCP is inherited in an autosomal dominant manner, but some people with PFCP have no relatives with the disease. In about 12-15% of people with PFCP, it is caused by genetic changes in the EPOR gene. However in most people, the genetic cause is not yet known.","Curated_Disease_Description_Source__c":"GARD:0009843","GARD_Synonym__c":"congenital erythrocytosis due to erythropoietin receptor mutation; congenital polycythemia due to erythropoietin receptor mutation; epor familial polycythemia; erythrocytosis, familial, 1; erythrocytosis, familial, type 1; erythrocytosis, somatic; familial erythrocytosis 1; familial erythrocytosis type 1; familial erythrocytosis, 1; familial polycythemia caused by mutation in epor; pfcp; polycythemia, primary familial and congenital; primary congenital erythrocytosis; primary familial and congenital polycythemia; primary familial congenital polycythemia; primary familial polycythemia","Name":"Primary familial polycythemia due to EPO receptor mutation","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Blood Clot Alliance","Website__c":"https://www.stoptheclot.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":"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":"All ages","Provided_By__c":"ORPHA:90042"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009843","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK395975","Source__c":"Gene Review","Xref__c":"NBK395975"},{"URL__c":"https://www.orpha.net/en/disease/detail/90042","Source__c":"C4551637; MONDO:0007572; ORPHA:90042","Xref__c":"ORPHA:90042"},{"URL__c":"https://www.omim.org/entry/133100","Source__c":"C4551637; MONDO:0007572; ORPHA:90042","Xref__c":"OMIM:133100"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=17342003","Source__c":"MONDO:0007572","Xref__c":"17342003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060652","Source__c":"MONDO:0007572","Xref__c":"DOID:0060652"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1641215","Source__c":"C4551637","Xref__c":"MEDGEN:1641215"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551637","Source__c":"C4551637","Xref__c":"C4551637"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007572","Source__c":"GARD:0009843","Xref__c":"MONDO:0007572"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-erythrocytosis"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EPOR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/epor","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SH2B3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"JAK2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/jak2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:90042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002875","HPO_Synonym__c":"Exertional breathlessness; Shortness of breathing upon physical activity","HPO_Name__c":"Exertional dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001907","HPO_Synonym__c":"Blood clot in blood vessel; Thromboembolic disease; Thromboembolic events","HPO_Name__c":"Thromboembolism","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90042","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 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:90042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000421","HPO_Synonym__c":"Bloody nose; Frequent nosebleeds; Nasal hemorrhage; Nose bleed; Nose bleeding; Nosebleed","HPO_Name__c":"Epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90042","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:90042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90042","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:90042","HPO_Frequency__c":"Very frequent (80-99%)","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:90042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90042","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004936","HPO_Synonym__c":"Blood clot in vein","HPO_Name__c":"Venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001901","HPO_Synonym__c":"Abnormally shaped erythrocytes; Erythrocytosis; Increased red blood cells; Polyglobulia","HPO_Name__c":"Polycythemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90042","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:90042","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011902","HPO_Synonym__c":"Abnormal Hb","HPO_Name__c":"Abnormal hemoglobin","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["congenital erythrocytosis due to erythropoietin receptor mutation"," congenital polycythemia due to erythropoietin receptor mutation"," epor familial polycythemia"," erythrocytosis, familial, 1"," erythrocytosis, familial, type 1"," erythrocytosis, somatic"," familial erythrocytosis 1"," familial erythrocytosis type 1"," familial erythrocytosis, 1"," familial polycythemia caused by mutation in epor"," pfcp"," polycythemia, primary familial and congenital"," primary congenital erythrocytosis"," primary familial and congenital polycythemia"," primary familial congenital polycythemia"," primary familial polycythemia"]}