{"Name":"Chuvash polycythemia","DiseaseID__c":"GARD:0017176","id":17176,"encodedName":"chuvash-polycythemia","IsDeleted":false,"Disease_Name_Full__c":"Chuvash polycythemia","Xref_IDs__c":"C1837915; C563918; DOID:0060474; MEDGEN:332974; MONDO:0009892; OMIM:263400; ORPHA:238557","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009892","Disease_Description__c":"Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.","GARD_Name__c":"Chuvash polycythemia","GARD_Synonym__c":"autosomal recessive benign erythrocytosis; chuvash erythrocytosis; chuvash erythromatosis; chuvash type polycythemia; erythrocytosis, familial, type 2; familial erythrocytosis 2; familial polycythemia caused by mutation in vhl; polycythemia, vhl-dependent; vhl familial polycythemia; von hippel-lindau-dependent polycythemia","Curated_Disease_Description_Source__c":"MONDO:0009892","Curated_Disease_Description__c":"Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:238557","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009892","ORPHANET_ID__c":"ORPHA:238557","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Eritrocitosis de chuvash","Spanish_Description_Source__c":"ORPHA:238557","Spanish_Description__c":"La eritrocitosis de Chuvash, es un trastorno de policitemia secundaria congénita, genético y poco frecuente, caracterizado por un aumento de los niveles séricos de hemoglobina, hematocrito y eritropoyetina y un valor normal de afinidad por el oxígeno, que generalmente se manifiesta con cefalea, mareo, disnea y/o plétora. Los afectados presentan un mayor riesgo de hemorragia, trombosis y muerte prematura.","Spanish_Disease_Name__c":"eritrocitosis de chuvash","Spanish_GARD_Synonym__c":"policitemia asociada al síndrome de von hippel-lindau; policitemia de chuvash","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":"Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.","Curated_Disease_Description_Source__c":"MONDO:0009892","GARD_Synonym__c":"autosomal recessive benign erythrocytosis; chuvash erythrocytosis; chuvash erythromatosis; chuvash type polycythemia; erythrocytosis, familial, type 2; familial erythrocytosis 2; familial polycythemia caused by mutation in vhl; polycythemia, vhl-dependent; vhl familial polycythemia; von hippel-lindau-dependent polycythemia","Name":"Chuvash polycythemia","estimateUsa":""}],"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":"Neonatal","Provided_By__c":"ORPHA:238557"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:238557"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837915","Source__c":"C1837915","Xref__c":"C1837915"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332974","Source__c":"C1837915","Xref__c":"MEDGEN:332974"},{"URL__c":"https://www.omim.org/entry/263400","Source__c":"C1837915; MONDO:0009892; ORPHA:238557","Xref__c":"OMIM:263400"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563918","Source__c":"MONDO:0009892","Xref__c":"C563918"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060474","Source__c":"MONDO:0009892","Xref__c":"DOID:0060474"},{"URL__c":"https://www.orpha.net/en/disease/detail/238557","Source__c":"C1837915; MONDO:0009892","Xref__c":"ORPHA:238557"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009892","Source__c":"GARD:0017176","Xref__c":"MONDO:0009892"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"VHL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/vhl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:263400","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001050","HPO_Name__c":"Plethora","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:263400","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":"OMIM:263400","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":"OMIM:263400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of hemoglobin in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001900","HPO_Synonym__c":"Increased Hb; Increased Hb concentration; Increased hemoglobin; Increased hemoglobin concentration","HPO_Name__c":"Increased circulating hemoglobin concentration","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:263400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:263400","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033644","HPO_Synonym__c":"Elevated circulating erythropoietin","HPO_Name__c":"Elevated circulating erythropoietin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:263400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001899","HPO_Synonym__c":"Increased Hct","HPO_Name__c":"Increased hematocrit","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:263400","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002641","HPO_Synonym__c":"Peripheral blood clot","HPO_Name__c":"Peripheral thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:263400","Feature__r":{"HPO_Description__c":"Hemorrhage into the parenchyma of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001342","HPO_Synonym__c":"Bleeding in brain; Intracerebral hemorrhage","HPO_Name__c":"Cerebral hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:263400","Feature__r":{"HPO_Description__c":"The presence of an increased mass of red blood cells in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001898","HPO_Synonym__c":"Increased RBC mass","HPO_Name__c":"Increased red blood cell mass","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:263400","Feature__r":{"HPO_Description__c":"Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001297","HPO_Synonym__c":"Cerebral vascular events; Cerebrovascular accident; Stroke","HPO_Name__c":"Stroke","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:263400","Feature__r":{"HPO_Description__c":"Enlarged and tortuous veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002619","HPO_Name__c":"Varicose veins","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:263400","Feature__r":{"HPO_Description__c":"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001028","HPO_Synonym__c":"Strawberry mark","HPO_Name__c":"Hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:263400","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:263400","Feature__r":{"HPO_Description__c":"Low Blood Pressure, vascular hypotension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002615","HPO_Synonym__c":"Arterial hypotension; Low blood pressure","HPO_Name__c":"Hypotension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["autosomal recessive benign erythrocytosis"," chuvash erythrocytosis"," chuvash erythromatosis"," chuvash type polycythemia"," erythrocytosis, familial, type 2"," familial erythrocytosis 2"," familial polycythemia caused by mutation in vhl"," polycythemia, vhl-dependent"," vhl familial polycythemia"," von hippel-lindau-dependent polycythemia"]}