{"Name":"Hereditary factor XIII deficiency disease","DiseaseID__c":"GARD:0010766","id":10766,"encodedName":"hereditary-factor-xiii-deficiency-disease","IsDeleted":false,"Disease_Name_Full__c":"Hereditary factor XIII deficiency disease","Xref_IDs__c":"50189006; C0015530; C131633; C98941; DOID:2211; MEDGEN:4639; MONDO:0018029; ORPHA:331","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018029","Disease_Description__c":"Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies.","GARD_Name__c":"Hereditary factor XIII deficiency disease","GARD_Synonym__c":"congenital factor xiii deficiency; deficiency, laki-lorand factor; fibrin-stabilizing factor deficiency; laki-lorand factor deficiency disease","Curated_Disease_Description_Source__c":"GARD:0010766","Curated_Disease_Description__c":"Congenital factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain. Congenital factor XIII deficiency is usually caused by genetic changes in the F13A1 gene, but genetic changes have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:331","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018029","ORPHANET_ID__c":"ORPHA:331","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia congénita del factor xiii","Spanish_Description_Source__c":"ORPHA:331","Spanish_Description__c":"La deficiencia congénita de factor XIII es un trastorno hereditario de la coagulación, debido a una reducción del nivel y de la actividad del factor XIII (FXIII) y caracterizado por una tendencia hemorrágica, asociada frecuentemente a abortos espontáneos y anomalías de la cicatrización. La deficiencia de factor XIII es el más raro de las deficiencias de factores de coagulación.","Spanish_Disease_Name__c":"deficiencia congénita del factor xiii","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":"Congenital factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain. Congenital factor XIII deficiency is usually caused by genetic changes in the F13A1 gene, but genetic changes have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.","Curated_Disease_Description_Source__c":"GARD:0010766","GARD_Synonym__c":"congenital factor xiii deficiency; deficiency, laki-lorand factor; fibrin-stabilizing factor deficiency; laki-lorand factor deficiency disease","Name":"Hereditary factor XIII deficiency disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Canadian Hemophilia Society","Website__c":"https://www.hemophilia.ca"},{"Account_Name__c":"National Bleeding Disorders Foundation","Website__c":"https://www.bleeding.org/"},{"Account_Name__c":"World Federation of Hemophilia","Website__c":"https://wfh.org/"},{"Account_Name__c":"The Haemophilia Society","Website__c":"https://haemophilia.org.uk/"}],"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:331"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010766","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0015530","Source__c":"C0015530","Xref__c":"C0015530"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131633","Source__c":"MONDO:0018029","Xref__c":"C131633"},{"URL__c":"https://www.orpha.net/en/disease/detail/331","Source__c":"C0015530; MONDO:0018029; ORPHA:331","Xref__c":"ORPHA:331"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=4639","Source__c":"C0015530","Xref__c":"MEDGEN:4639"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=50189006","Source__c":"C0015530; MONDO:0018029","Xref__c":"50189006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2211","Source__c":"MONDO:0018029","Xref__c":"DOID:2211"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018029","Source__c":"GARD:0010766","Xref__c":"MONDO:0018029"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C005177","Source__c":"C0015530","Xref__c":"D005177"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98941","Source__c":"C0015530","Xref__c":"C98941"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"F13B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/f13b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"F13A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/f13a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:331","HPO_Frequency__c":"Occasional (5-29%)","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:331","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001399","HPO_Synonym__c":"Hepatic insufficiency; Liver failure","HPO_Name__c":"Hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:331","HPO_Frequency__c":"Frequent (30-79%)","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:331","HPO_Frequency__c":"Occasional (5-29%)","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:331","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:331","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012324","HPO_Name__c":"Myeloid leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040232","HPO_Name__c":"Delayed onset bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331","HPO_Frequency__c":"Frequent (30-79%)","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:331","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:331","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008357","HPO_Name__c":"Reduced factor XIII activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation, or an inflammatory state in the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002037","HPO_Synonym__c":"Inflammation of the large intestine","HPO_Name__c":"Inflammation of the large intestine","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331","HPO_Frequency__c":"Very frequent (80-99%)","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:331","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:331","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A purpuric lesion that is larger than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031364","HPO_Synonym__c":"Ecchymoses","HPO_Name__c":"Ecchymosis","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331","HPO_Frequency__c":"Frequent (30-79%)","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:331","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:331","HPO_Frequency__c":"Occasional (5-29%)","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:331","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:331","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:331","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:331","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Recurrent or excessive bleeding from the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030140","HPO_Synonym__c":"Bleeding from mouth; Oral cavity bleeding; Oral cavity hemorrhage","HPO_Name__c":"Oral cavity bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding that persists for a longer than usual time following circumcision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030137","HPO_Synonym__c":"Prolonged bleeding following circumcision","HPO_Name__c":"Prolonged bleeding following circumcision","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:331","HPO_Frequency__c":"Occasional (5-29%)","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:331","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Significant bleeding or hemorrhage without significant precipitating factor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011889","HPO_Synonym__c":"Bleeding with minor or no trauma; Easy bleeding","HPO_Name__c":"Bleeding with minor or no trauma","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 factor xiii deficiency"," deficiency, laki-lorand factor"," fibrin-stabilizing factor deficiency"," laki-lorand factor deficiency disease"]}