{"Name":"Gray platelet syndrome","DiseaseID__c":"GARD:0002562","id":2562,"encodedName":"gray-platelet-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Gray platelet syndrome","Xref_IDs__c":"51720005; C0272302; C84741; D055652; DOID:0111044; MEDGEN:82900; MONDO:0007686; OMIM:139090; ORPHA:721","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:0007686","Disease_Description__c":"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.","GARD_Name__c":"Gray platelet syndrome","GARD_Synonym__c":"alpha storage pool deficiency; bdplt4; bleeding disorder, platelet-type, 4; deficient alpha granule syndrome; gps; platelet alpha granule deficiency; platelet alpha-granule deficiency; platelet granule defect; platelet-type bleeding disorder 4","Curated_Disease_Description_Source__c":"GARD:0002562","Curated_Disease_Description__c":"Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor trauma. Women with gray platelet syndrome often have irregular, heavy periods (menometrorrhagia). These bleeding problems are usually mild to moderate, but they have been life-threatening in a few affected individuals. A condition called myelofibrosis, which is a buildup of scar tissue (fibrosis) in the bone marrow, is another common feature of gray platelet syndrome. Bone marrow is the spongy tissue in the center of long bones that produces most of the blood cells the body needs, including platelets. The scarring associated with myelofibrosis damages bone marrow, preventing it from making enough blood cells. Other organs, particularly the spleen, start producing more blood cells to compensate; this process often leads to an enlarged spleen (splenomegaly).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:721","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007686","ORPHANET_ID__c":"ORPHA:721","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de plaquetas grises","Spanish_Description_Source__c":"ORPHA:721","Spanish_Description__c":"El síndrome de plaquetas grises (SPG) es un trastorno hereditario raro de la coagulación, caracterizado por macrotrombocitopenia, mielofibrosis, esplenomegalia y apariencia típicamente gris de las plaquetas en frotis de sangre periférica con la tinción de Wright.","Spanish_Disease_Name__c":"síndrome de plaquetas grises","Spanish_GARD_Synonym__c":"deficiencia de almacenamiento del pool de gránulos alfa; deficiencia de gránulos alfa plaquetarios; gps; sindrome plaquetario gris","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":"Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are small blood cells involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor trauma. Women with gray platelet syndrome often have irregular, heavy periods (menometrorrhagia). These bleeding problems are usually mild to moderate, but they have been life-threatening in a few affected individuals. A condition called myelofibrosis, which is a buildup of scar tissue (fibrosis) in the bone marrow, is another common feature of gray platelet syndrome. Bone marrow is the spongy tissue in the center of long bones that produces most of the blood cells the body needs, including platelets. The scarring associated with myelofibrosis damages bone marrow, preventing it from making enough blood cells. Other organs, particularly the spleen, start producing more blood cells to compensate; this process often leads to an enlarged spleen (splenomegaly).","Curated_Disease_Description_Source__c":"GARD:0002562","GARD_Synonym__c":"alpha storage pool deficiency; bdplt4; bleeding disorder, platelet-type, 4; deficient alpha granule syndrome; gps; platelet alpha granule deficiency; platelet alpha-granule deficiency; platelet granule defect; platelet-type bleeding disorder 4","Name":"Gray platelet syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Platelet Disorder Support Association","Website__c":"https://www.pdsa.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":"Childhood","Provided_By__c":"ORPHA:721"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0272302"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002562","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C055652","Source__c":"C0272302; MONDO:0007686","Xref__c":"D055652"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111044","Source__c":"MONDO:0007686","Xref__c":"DOID:0111044"},{"URL__c":"https://www.omim.org/entry/139090","Source__c":"C0272302; MONDO:0007686; ORPHA:721","Xref__c":"OMIM:139090"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0272302","Source__c":"C0272302","Xref__c":"C0272302"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=51720005","Source__c":"C0272302; MONDO:0007686","Xref__c":"51720005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82900","Source__c":"C0272302","Xref__c":"MEDGEN:82900"},{"URL__c":"https://www.orpha.net/en/disease/detail/721","Source__c":"C0272302; MONDO:0007686; ORPHA:721","Xref__c":"ORPHA:721"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84741","Source__c":"C0272302; MONDO:0007686","Xref__c":"C84741"},{"URL__c":"https://medlineplus.gov/genetics/condition/gray-platelet-syndrome","Source__c":"GARD:0002562","Xref__c":"https://medlineplus.gov/genetics/condition/gray-platelet-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007686","Source__c":"GARD:0002562","Xref__c":"MONDO:0007686"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NBEAL2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/nbeal2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:721","HPO_Frequency__c":"Frequent (30-79%)","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:721","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of platelets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001872","HPO_Synonym__c":"Platelet abnormalities","HPO_Name__c":"Abnormality of thrombocytes","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:721","HPO_Frequency__c":"Very frequent (80-99%)","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:721","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002863","HPO_Synonym__c":"Myelodysplastic syndrome","HPO_Name__c":"Myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:721","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the ovulation cycle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000140","HPO_Synonym__c":"Abnormality of the menstrual cycle","HPO_Name__c":"Abnormality of the menstrual cycle","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:721","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:721","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:721","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["alpha storage pool deficiency"," bdplt4"," bleeding disorder, platelet-type, 4"," deficient alpha granule syndrome"," gps"," platelet alpha granule deficiency"," platelet alpha-granule deficiency"," platelet granule defect"," platelet-type bleeding disorder 4"]}