{"Name":"Glanzmann thrombasthenia","DiseaseID__c":"GARD:0002478","id":2478,"encodedName":"glanzmann-thrombasthenia","IsDeleted":false,"Disease_Name_Full__c":"Glanzmann thrombasthenia","Xref_IDs__c":"C0040015; C61249; MEDGEN:52736; MONDO:0100326; OMIMPS:273800; ORPHA:849","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":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"GARD:0002478","Disease_Description__c":"Glanzmann thrombasthenia (GT) is a rare inherited blood clotting disorder that is present at birth. It is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. Signs and symptoms vary greatly from person to person. Symptoms usually include abnormal bleeding, which can be severe. Other symptoms may include easy bruising, nose bleeds, bleeding from the gums, and/or heavy menstrual bleeding. Rarely, internal bleeding and blood in the urine (hematuria) can occur. This condition is inherited in an autosomal recessive fashion and is caused by genetic changes in either the ITGA2B or ITGB3 genes.","GARD_Name__c":"Glanzmann thrombasthenia","GARD_Synonym__c":"bleeding disorder, platelet-type, 2; glanzmann thromboasthenia; glanzmann-naegeli disorder; glanzmann's disease; glanzmann's syndrome; glanzmann's thrombasthenia; hereditary hemorrhagic thrombasthenia; hereditary thromboasthenia; platelet glycoprotein iib-iiia deficiency; thrombasthenia; thrombasthenia of glanzmann and naegeli; thrombasthenia of glanzmann and naegeli, itga2b-related; thrombasthenia of glanzmann and naegeli, itgb3-related","Curated_Disease_Description_Source__c":"GARD:0002478","Curated_Disease_Description__c":"Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth. About a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis). The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.","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:849","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100326","ORPHANET_ID__c":"ORPHA:849","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombastenia de glanzmann","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"trombastenia de glanzmann","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":"Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth. About a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis). The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.","Curated_Disease_Description_Source__c":"GARD:0002478","GARD_Synonym__c":"bleeding disorder, platelet-type, 2; glanzmann thromboasthenia; glanzmann-naegeli disorder; glanzmann's disease; glanzmann's syndrome; glanzmann's thrombasthenia; hereditary hemorrhagic thrombasthenia; hereditary thromboasthenia; platelet glycoprotein iib-iiia deficiency; thrombasthenia; thrombasthenia of glanzmann and naegeli; thrombasthenia of glanzmann and naegeli, itga2b-related; thrombasthenia of glanzmann and naegeli, itgb3-related","Name":"Glanzmann thrombasthenia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"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/"}],"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:849"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:849"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002478","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS273800","Source__c":"MONDO:0100326","Xref__c":"OMIMPS:273800"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=52736","Source__c":"C0040015","Xref__c":"MEDGEN:52736"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0040015","Source__c":"C0040015","Xref__c":"C0040015"},{"URL__c":"https://www.orpha.net/en/disease/detail/849","Source__c":"C0040015; MONDO:0100326; ORPHA:849","Xref__c":"ORPHA:849"},{"URL__c":"https://medlineplus.gov/genetics/condition/glanzmann-thrombasthenia","Source__c":"GARD:0002478","Xref__c":"https://medlineplus.gov/genetics/condition/glanzmann-thrombasthenia"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=32942005","Source__c":"C0040015","Xref__c":"32942005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C013915","Source__c":"C0040015","Xref__c":"D013915"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100326","Source__c":"GARD:0002478","Xref__c":"MONDO:0100326"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C61249","Source__c":"C0040015","Xref__c":"C61249"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ITGB3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/itgb3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ITGA2B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/itga2b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:849","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011870","HPO_Name__c":"Impaired arachidonic acid-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:849","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008148","HPO_Name__c":"Impaired epinephrine-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:849","HPO_Frequency__c":"Frequent (30-79%)","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:849","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031128","HPO_Name__c":"Impaired collagen-related peptide-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:849","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011871","HPO_Name__c":"Impaired ristocetin-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:849","HPO_Frequency__c":"Frequent (30-79%)","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:849","HPO_Frequency__c":"Occasional (5-29%)","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:849","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Prolonged/excessive menses and bleeding at irregular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0400008","HPO_Name__c":"Menometrorrhagia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:849","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000979","HPO_Synonym__c":"Red or purple spots on the skin","HPO_Name__c":"Purpura","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:849","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:849","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004866","HPO_Name__c":"Impaired ADP-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:849","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:849","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003010","HPO_Synonym__c":"Increased bleeding time; Prolonged bleeding time","HPO_Name__c":"Prolonged bleeding time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:849","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004406","HPO_Synonym__c":"Recurrent epistaxes; Recurrent epistaxis; Recurring nosebleed; Spontaneous, recurrent nosebleed","HPO_Name__c":"Spontaneous, recurrent epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:849","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011894","HPO_Name__c":"Impaired thromboxane A2 agonist-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:849","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:849","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011872","HPO_Name__c":"Impaired thrombin-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:849","HPO_Frequency__c":"Frequent (30-79%)","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:849","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:849","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hematuria that is visible upon inspection of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012587","HPO_Synonym__c":"Bloody urine; Gross hematuria","HPO_Name__c":"Macroscopic hematuria","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["bleeding disorder, platelet-type, 2"," glanzmann thromboasthenia"," glanzmann-naegeli disorder"," glanzmann's disease"," glanzmann's syndrome"," glanzmann's thrombasthenia"," hereditary hemorrhagic thrombasthenia"," hereditary thromboasthenia"," platelet glycoprotein iib-iiia deficiency"," thrombasthenia"," thrombasthenia of glanzmann and naegeli"," thrombasthenia of glanzmann and naegeli, itga2b-related"," thrombasthenia of glanzmann and naegeli, itgb3-related"]}