{"Name":"Bernard Soulier syndrome","DiseaseID__c":"GARD:0002470","id":2470,"encodedName":"bernard-soulier-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Bernard Soulier syndrome","Xref_IDs__c":"234478007; 54569005; C0005129; C84595; D001606; DOID:2217; MEDGEN:2212; MONDO:0009276; OMIM:231200; ORPHA:274","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009276","Disease_Description__c":"A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.","GARD_Name__c":"Bernard Soulier syndrome","GARD_Synonym__c":"bernard - soulier thrombopathy; bernard-soulier syndrome; bernard-soulier syndrome, type a1 (recessive); bleeding disorder, platelet-type, 1; bss; giant platelet disease; giant platelet disorder, isolated; giant platelet syndrome; glycoprotein ib, platelet, deficiency of; hemorrhagic dystrophic thrombocytopenia; hemorrhagiparous thrombocytic dystrophy; platelet glycoprotein 1b, deficiency of; platelet glycoprotein ib deficiency; thrombopathy, bernard-soulier; von willebrand factor receptor deficiency","Curated_Disease_Description_Source__c":"MONDO:0009276","Curated_Disease_Description__c":"Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells involved in blood clotting. In affected individuals, platelets are unusually large and fewer in number than usual (a combination known as macrothrombocytopenia). People with Bernard-Soulier syndrome tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or prolonged bleeding following minor injury or surgery or even without trauma (spontaneous bleeding). Rarely, bleeding under the skin causes tiny red or purple spots on the skin called petechiae. Women with Bernard-Soulier syndrome often have heavy or prolonged menstrual bleeding (menorrhagia).","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:274","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009276","ORPHANET_ID__c":"ORPHA:274","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de bernard-soulier","Spanish_Description_Source__c":"ORPHA:274","Spanish_Description__c":"Es un trastorno plaquetario hereditario poco frecuente que se caracteriza por una tendencia hemorrágica de leve a grave, macrotrombocitopenia y ausencia de agregación plaquetaria inducida por ristocetina.","Spanish_Disease_Name__c":"síndrome de bernard-soulier","Spanish_GARD_Synonym__c":"distrofia trombocítica hemorrágica","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":"Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells involved in blood clotting. In affected individuals, platelets are unusually large and fewer in number than usual (a combination known as macrothrombocytopenia). People with Bernard-Soulier syndrome tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or prolonged bleeding following minor injury or surgery or even without trauma (spontaneous bleeding). Rarely, bleeding under the skin causes tiny red or purple spots on the skin called petechiae. Women with Bernard-Soulier syndrome often have heavy or prolonged menstrual bleeding (menorrhagia).","Curated_Disease_Description_Source__c":"MONDO:0009276","GARD_Synonym__c":"bernard - soulier thrombopathy; bernard-soulier syndrome; bernard-soulier syndrome, type a1 (recessive); bleeding disorder, platelet-type, 1; bss; giant platelet disease; giant platelet disorder, isolated; giant platelet syndrome; glycoprotein ib, platelet, deficiency of; hemorrhagic dystrophic thrombocytopenia; hemorrhagiparous thrombocytic dystrophy; platelet glycoprotein 1b, deficiency of; platelet glycoprotein ib deficiency; thrombopathy, bernard-soulier; von willebrand factor receptor deficiency","Name":"Bernard Soulier syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"All ages","Provided_By__c":"ORPHA:274"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0005129"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002470","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234478007","Source__c":"C0005129; MONDO:0009276","Xref__c":"234478007"},{"URL__c":"https://www.orpha.net/en/disease/detail/274","Source__c":"C0005129; MONDO:0009276; ORPHA:274","Xref__c":"ORPHA:274"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001606","Source__c":"C0005129; MONDO:0009276","Xref__c":"D001606"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0005129","Source__c":"C0005129","Xref__c":"C0005129"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84595","Source__c":"C0005129; MONDO:0009276","Xref__c":"C84595"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2212","Source__c":"C0005129","Xref__c":"MEDGEN:2212"},{"URL__c":"https://www.omim.org/entry/231200","Source__c":"C0005129; MONDO:0009276; ORPHA:274","Xref__c":"OMIM:231200"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2217","Source__c":"MONDO:0009276","Xref__c":"DOID:2217"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009276","Source__c":"GARD:0002470","Xref__c":"MONDO:0009276"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=54569005","Source__c":"C0005129","Xref__c":"54569005"},{"URL__c":"https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome","Source__c":"GARD:0002470","Xref__c":"https://medlineplus.gov/genetics/condition/bernard-soulier-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GP1BA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gp1ba","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GP1BB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gp1bb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GP9","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gp9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:274","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000967","HPO_Name__c":"Petechiae","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:274","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The vomiting of blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002248","HPO_Synonym__c":"Vomiting blood","HPO_Name__c":"Hematemesis","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:274","HPO_Frequency__c":"Frequent (30-79%)","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:274","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002099","HPO_Synonym__c":"Asthma; Bronchial asthma","HPO_Name__c":"Asthma","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:274","HPO_Frequency__c":"Frequent (30-79%)","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:274","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:274","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:274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040185","HPO_Synonym__c":"Macrothrombozytopenia","HPO_Name__c":"Macrothrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:274","HPO_Frequency__c":"Very frequent (80-99%)","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:274","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:274","HPO_Frequency__c":"Frequent (30-79%)","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:274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001902","HPO_Name__c":"Giant platelets","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:274","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:274","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:274","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:274","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a partially duplicated kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008738","HPO_Synonym__c":"Partially duplicated kidney","HPO_Name__c":"Partially duplicated kidney","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:274","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:274","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012143","HPO_Synonym__c":"Abnormality of cells of the megakaryocyte lineage","HPO_Name__c":"Abnormal megakaryocyte morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:274","HPO_Frequency__c":"Always (100%)","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:274","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"}},{"Provided_By__c":"ORPHA:274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011879","HPO_Name__c":"Decreased platelet glycoprotein Ib-IX-V","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":["bernard - soulier thrombopathy"," bernard-soulier syndrome"," bernard-soulier syndrome, type a1 (recessive)"," bleeding disorder, platelet-type, 1"," bss"," giant platelet disease"," giant platelet disorder, isolated"," giant platelet syndrome"," glycoprotein ib, platelet, deficiency of"," hemorrhagic dystrophic thrombocytopenia"," hemorrhagiparous thrombocytic dystrophy"," platelet glycoprotein 1b, deficiency of"," platelet glycoprotein ib deficiency"," thrombopathy, bernard-soulier"," von willebrand factor receptor deficiency"]}