{"Name":"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency","DiseaseID__c":"GARD:0017125","id":17125,"encodedName":"hereditary-thrombophilia-due-to-congenital-histidine-rich-poly-l-glycoprotein-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency","Xref_IDs__c":"C2751090; C567737; DOID:0111903; MEDGEN:416465; MONDO:0013143; OMIM:613116; ORPHA:217467","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":0,"Description_Source__c":"ORPHA:217467","Disease_Description__c":"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.","GARD_Name__c":"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency","GARD_Synonym__c":"hereditary thrombophilia due to congenital hrg deficiency; thrombophilia 11 due to hrg deficiency; thrombophilia due to histidine-rich glycoprotein deficiency; thrombophilia due to hrg deficiency","Curated_Disease_Description_Source__c":"ORPHA:217467","Curated_Disease_Description__c":"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:217467","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013143","ORPHANET_ID__c":"ORPHA:217467","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombofilia hereditaria por deficiencia congénita de glicoproteína rica en histidina (poli-l)","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"trombofilia hereditaria por deficiencia congénita de glicoproteína rica en histidina (poli-l)","Spanish_GARD_Synonym__c":"trombofilia hereditaria por deficiencia congénita de hrg","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":"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency is a rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.","Curated_Disease_Description_Source__c":"ORPHA:217467","GARD_Synonym__c":"hereditary thrombophilia due to congenital hrg deficiency; thrombophilia 11 due to hrg deficiency; thrombophilia due to histidine-rich glycoprotein deficiency; thrombophilia due to hrg deficiency","Name":"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein","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":"Rheumatology","Tag_Category__c":"Specialist"},{"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":"Orthopedics","Tag_Category__c":"Specialist"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111903","Source__c":"MONDO:0013143","Xref__c":"DOID:0111903"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567737","Source__c":"MONDO:0013143","Xref__c":"C567737"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2751090","Source__c":"C2751090","Xref__c":"C2751090"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=416465","Source__c":"C2751090","Xref__c":"MEDGEN:416465"},{"URL__c":"https://www.omim.org/entry/613116","Source__c":"C2751090; MONDO:0013143; ORPHA:217467","Xref__c":"OMIM:613116"},{"URL__c":"https://www.orpha.net/en/disease/detail/217467","Source__c":"C2751090; MONDO:0013143","Xref__c":"ORPHA:217467"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013143","Source__c":"GARD:0017125","Xref__c":"MONDO:0013143"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HRG","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613116","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040227","HPO_Name__c":"Decreased level of histidine-rich glycoprotein","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613116","Feature__r":{"HPO_Description__c":"Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001977","HPO_Synonym__c":"Abnormal blood clot; Abnormal blood clotting","HPO_Name__c":"Abnormal thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613116","Feature__r":{"HPO_Description__c":"An abnormality of coagulation associated with an increased risk of thrombosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100724","HPO_Synonym__c":"Blood hyperviscosity; Thrombophilia","HPO_Name__c":"Hypercoagulability","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613116","Feature__r":{"HPO_Description__c":"Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004831","HPO_Name__c":"Recurrent thromboembolism","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Rheumatology","Hematology","Orthopedics"]},"synonyms":["hereditary thrombophilia due to congenital hrg deficiency"," thrombophilia 11 due to hrg deficiency"," thrombophilia due to histidine-rich glycoprotein deficiency"," thrombophilia due to hrg deficiency"]}