{"Name":"Congenital plasminogen activator inhibitor type 1 deficiency","DiseaseID__c":"GARD:0004381","id":4381,"encodedName":"congenital-plasminogen-activator-inhibitor-type-1-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Congenital plasminogen activator inhibitor type 1 deficiency","Xref_IDs__c":"717407006; C133884; C2750067; C567640; MEDGEN:412870; MONDO:0013227; OMIM:613329; ORPHA:465","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":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0013227","Disease_Description__c":"A rare hemorrhagic disorder due to a constitutional haemostatic factors defect characterized by premature lysis of hemostatic clots and a moderate bleeding tendency.","GARD_Name__c":"Congenital plasminogen activator inhibitor type 1 deficiency","GARD_Synonym__c":"congenital pai-1 deficiency; hyperfibrinolysis due to pai1 deficiency","Curated_Disease_Description_Source__c":"GARD:0004381","Curated_Disease_Description__c":"Complete plasminogen activator inhibitor 1 deficiency (complete PAI-1 deficiency) is a disorder that causes abnormal bleeding. In people with this disorder, bleeding associated with injury can be excessive and last longer than usual. Individuals with complete PAI-1 deficiency may experience prolonged nosebleeds, excessive bleeding after medical or dental procedures, easy bruising, and significant bleeding into the joints or soft tissues after even a minor injury. Internal bleeding after an injury, especially bleeding around the brain (intracranial hemorrhage), can be life-threatening. Affected females may have excessive bleeding associated with menstruation (menorrhagia) and abnormal bleeding in pregnancy and childbirth. In addition to bleeding problems, some people with complete PAI-1 deficiency develop scar tissue in the heart (cardiac fibrosis), which can lead to heart failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:465","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013227","ORPHANET_ID__c":"ORPHA:465","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita del inhibidor del activador del plasminógeno tipo 1","Spanish_Description_Source__c":"ORPHA:465","Spanish_Description__c":"Es un trastorno hemorrágico poco frecuente caracterizado por la lisis prematura de los coágulos hemostáticos y una tendencia moderada al sangrado.","Spanish_Disease_Name__c":"deficiencia congénita del inhibidor del activador del plasminógeno tipo 1","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":"Complete plasminogen activator inhibitor 1 deficiency (complete PAI-1 deficiency) is a disorder that causes abnormal bleeding. In people with this disorder, bleeding associated with injury can be excessive and last longer than usual. Individuals with complete PAI-1 deficiency may experience prolonged nosebleeds, excessive bleeding after medical or dental procedures, easy bruising, and significant bleeding into the joints or soft tissues after even a minor injury. Internal bleeding after an injury, especially bleeding around the brain (intracranial hemorrhage), can be life-threatening. Affected females may have excessive bleeding associated with menstruation (menorrhagia) and abnormal bleeding in pregnancy and childbirth. In addition to bleeding problems, some people with complete PAI-1 deficiency develop scar tissue in the heart (cardiac fibrosis), which can lead to heart failure.","Curated_Disease_Description_Source__c":"GARD:0004381","GARD_Synonym__c":"congenital pai-1 deficiency; hyperfibrinolysis due to pai1 deficiency","Name":"Congenital plasminogen activator inhibitor type 1 deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Bleeding Disorders Foundation","Website__c":"https://www.bleeding.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":"Elderly","Provided_By__c":"ORPHA:465"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:465"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:465"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:465"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004381","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK447152","Source__c":"Gene Review","Xref__c":"NBK447152"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=412870","Source__c":"C2750067","Xref__c":"MEDGEN:412870"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2750067","Source__c":"C2750067","Xref__c":"C2750067"},{"URL__c":"https://www.orpha.net/en/disease/detail/465","Source__c":"C2750067; MONDO:0013227","Xref__c":"ORPHA:465"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717407006","Source__c":"MONDO:0013227","Xref__c":"717407006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567640","Source__c":"MONDO:0013227","Xref__c":"C567640"},{"URL__c":"https://www.omim.org/entry/613329","Source__c":"C2750067; MONDO:0013227; ORPHA:465","Xref__c":"OMIM:613329"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C133884","Source__c":"C2750067; MONDO:0013227","Xref__c":"C133884"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013227","Source__c":"GARD:0004381","Xref__c":"MONDO:0013227"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SERPINE1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/serpine1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced level of plasminogen activator inhibitor 1 antigen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040249","HPO_Name__c":"Reduced plasminogen activator inhibitor 1 antigen","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Occasional (5-29%)","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:465","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Prolonged bleeding post dental extraction sufficient to require medical intervention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006298","HPO_Synonym__c":"Prolonged bleeding after dental extraction","HPO_Name__c":"Prolonged bleeding after dental extraction","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","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:465","HPO_Frequency__c":"Uncommon (<1-4%)","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:465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bleeding that persists longer than the normal time following a surgical procedure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004846","HPO_Synonym__c":"Excessive bleeding during surgery; Prolonged bleeding after surgery; Protracted bleeding after surgery","HPO_Name__c":"Prolonged bleeding after surgery","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A reduced ability to heal cutaneous wounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001058","HPO_Synonym__c":"Poor wound healing","HPO_Name__c":"Poor wound healing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001933","HPO_Synonym__c":"Bleeding below the skin","HPO_Name__c":"Subcutaneous hemorrhage","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001685","HPO_Name__c":"Myocardial fibrosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring between the dura mater and the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100310","HPO_Synonym__c":"Epidural haematoma; Epidural hematoma; Extradural haematoma; Extradural hematoma","HPO_Name__c":"Epidural hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011854","HPO_Name__c":"Hemoperitoneum","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040248","HPO_Name__c":"Reduced plasminogen activator inhibitor 1 activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040245","HPO_Name__c":"Reduced alpha-2-antiplasmin activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Spontaneous development of hematomas (hematoma) or bruises without significant trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007420","HPO_Name__c":"Spontaneous hematomas","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000132","HPO_Synonym__c":"Abnormally heavy bleeding during menstruation; Abnormally heavy periods; Hypermenorrhea","HPO_Name__c":"Menorrhagia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030657","HPO_Synonym__c":"Umbilical cord haematoma","HPO_Name__c":"Umbilical cord hematoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Uncommon (<1-4%)","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:465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased level of Plasminogen","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040228","HPO_Synonym__c":"Hypoplasminogenemia","HPO_Name__c":"Decreased level of plasminogen","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:465","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:465","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040184","HPO_Synonym__c":"Oral bleeding; Oral hemorrhage","HPO_Name__c":"Oral bleeding","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Significant maternal hemorrhage/blood loss following deilvery of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011891","HPO_Synonym__c":"Bleeding post-delivery; Post-partum hemorrhage","HPO_Name__c":"Post-partum hemorrhage","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:465","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040230","HPO_Synonym__c":"Decreased level of tPA","HPO_Name__c":"Decreased level of tissue plasminogen activator","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 pai-1 deficiency"," hyperfibrinolysis due to pai1 deficiency"]}