{"Name":"Alpha-2-plasmin inhibitor deficiency","DiseaseID__c":"GARD:0000731","id":731,"encodedName":"alpha-2-plasmin-inhibitor-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Alpha-2-plasmin inhibitor deficiency","Xref_IDs__c":"716746003; C2752081; C537777; DOID:0060601; MEDGEN:414178; MONDO:0009883; OMIM:262850; ORPHA:79","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009883","Disease_Description__c":"A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones).","GARD_Name__c":"Alpha-2-plasmin inhibitor deficiency","GARD_Synonym__c":"antiplasmin deficiency; antiplasmin defiency; congenital alpha2-antiplasmin deficiency; plasmin inhibitor deficiency","Curated_Disease_Description_Source__c":"MONDO:0009883","Curated_Disease_Description__c":"A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:79","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009883","ORPHANET_ID__c":"ORPHA:79","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita de alfa2-antiplasmina","Spanish_Description_Source__c":"ORPHA:79","Spanish_Description__c":"Es un trastorno hemorrágico poco frecuente causado por un déficit congénito de alfa-2 antiplasmina, que conduce a una desregulación de la fibrinolisis. Está caracterizado por una tendencia hemorrágica que se manifiesta desde la infancia con sangrado prolongado y equimosis a consecuencia de traumatismo y episodios de sangrado espontáneo (con frecuencia en localizaciones poco habituales como la diáfisis de huesos largos).","Spanish_Disease_Name__c":"deficiencia congénita de alfa2-antiplasmina","Spanish_GARD_Synonym__c":null,"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":"A rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones).","Curated_Disease_Description_Source__c":"MONDO:0009883","GARD_Synonym__c":"antiplasmin deficiency; antiplasmin defiency; congenital alpha2-antiplasmin deficiency; plasmin inhibitor deficiency","Name":"Alpha-2-plasmin inhibitor deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Childhood","Provided_By__c":"ORPHA:79"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2752081"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000731","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716746003","Source__c":"MONDO:0009883","Xref__c":"716746003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537777","Source__c":"MONDO:0009883","Xref__c":"C537777"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2752081","Source__c":"C2752081","Xref__c":"C2752081"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060601","Source__c":"MONDO:0009883","Xref__c":"DOID:0060601"},{"URL__c":"https://www.omim.org/entry/262850","Source__c":"C2752081; MONDO:0009883; ORPHA:79","Xref__c":"OMIM:262850"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=414178","Source__c":"C2752081","Xref__c":"MEDGEN:414178"},{"URL__c":"https://www.orpha.net/en/disease/detail/79","Source__c":"C2752081; MONDO:0009883","Xref__c":"ORPHA:79"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009883","Source__c":"GARD:0000731","Xref__c":"MONDO:0009883"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SERPINF2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001934","HPO_Synonym__c":"Excessive bleeding after minor trauma; Frequent bleeding with trauma; Prolonged bleeding after minor trauma","HPO_Name__c":"Persistent bleeding after trauma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79","HPO_Frequency__c":"Frequent (30-79%)","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:79","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Blood clot formed within muscle tissue following leakage of blood into the tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012233","HPO_Synonym__c":"IM hematoma; Intramuscular haematoma","HPO_Name__c":"Intramuscular hematoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040247","HPO_Name__c":"Reduced euglobulin clot lysis time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000225","HPO_Synonym__c":"Bleeding gums; Gingival hemorrhage; Gingivorrhagia","HPO_Name__c":"Gingival bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002170","HPO_Synonym__c":"Bleeding within the skull","HPO_Name__c":"Intracranial hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000790","HPO_Synonym__c":"Blood in urine","HPO_Name__c":"Hematuria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of blood in the pleural space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012151","HPO_Name__c":"Hemothorax","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005261","HPO_Synonym__c":"Bleeding within a joint; Hemarthroses; Hemarthrosis; Joint hemorrhage; Spontaneous joint hemorrhage","HPO_Name__c":"Joint hemorrhage","Feature_System__c":"Musculoskeletal System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011884","HPO_Name__c":"Abnormal umbilical stump bleeding","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":["antiplasmin deficiency"," antiplasmin defiency"," congenital alpha2-antiplasmin deficiency"," plasmin inhibitor deficiency"]}