{"Name":"Storage pool disease of platelets","DiseaseID__c":"GARD:0005034","id":5034,"encodedName":"storage-pool-disease-of-platelets","IsDeleted":false,"Disease_Name_Full__c":"Storage pool disease of platelets","Xref_IDs__c":"234474009; C0032197; D010981; DOID:2223; MEDGEN:19351; MONDO:0008495; OMIM:185050; ORPHA:734","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008495","Disease_Description__c":"Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.","GARD_Name__c":"Storage pool disease of platelets","GARD_Synonym__c":"alpha delta granule deficiency; alpha dense granule deficiency; combined alpha-delta platelet storage pool deficiency; delta storage pool disease; dense body defect; dense body deficiency; nucleotide storage pool disorder; platelet dense granule deficiency; platelet storage organelle defect; platelet storage pool defect; platelet storage pool deficiency; platelet storage pool diseases; storage pool deficiency; storage pool platelet disease","Curated_Disease_Description_Source__c":"GARD:0005034","Curated_Disease_Description__c":"Alpha delta granule deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Alpha delta granule deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation; easy bruising; recurrent anemia; and abnormal bleeding after surgery, dental work or childbirth. Alpha delta granule deficiencies may be genetic or acquired (non-genetic).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:734","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008495","ORPHANET_ID__c":"ORPHA:734","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de gránulos alfa y delta","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de gránulos alfa y delta","Spanish_GARD_Synonym__c":"deficiencia combinada alfa-delta de almacenamiento del pool plaquetario; deficiencia de gránulos alfa y densos","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":"Alpha delta granule deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Alpha delta granule deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation; easy bruising; recurrent anemia; and abnormal bleeding after surgery, dental work or childbirth. Alpha delta granule deficiencies may be genetic or acquired (non-genetic).","Curated_Disease_Description_Source__c":"GARD:0005034","GARD_Synonym__c":"alpha delta granule deficiency; alpha dense granule deficiency; combined alpha-delta platelet storage pool deficiency; delta storage pool disease; dense body defect; dense body deficiency; nucleotide storage pool disorder; platelet dense granule deficiency; platelet storage organelle defect; platelet storage pool defect; platelet storage pool deficiency; platelet storage pool diseases; storage pool deficiency; storage pool platelet disease","Name":"Storage pool disease of platelets","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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005034","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/734","Source__c":"C0032197; MONDO:0008495","Xref__c":"ORPHA:734"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=19351","Source__c":"C0032197","Xref__c":"MEDGEN:19351"},{"URL__c":"https://www.omim.org/entry/185050","Source__c":"C0032197; MONDO:0008495; ORPHA:734","Xref__c":"OMIM:185050"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234474009","Source__c":"C0032197; MONDO:0008495","Xref__c":"234474009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0032197","Source__c":"C0032197","Xref__c":"C0032197"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2223","Source__c":"MONDO:0008495","Xref__c":"DOID:2223"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C010981","Source__c":"C0032197; MONDO:0008495","Xref__c":"D010981"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128099001","Source__c":"C0032197","Xref__c":"128099001"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=9417000","Source__c":"C0032197","Xref__c":"9417000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008495","Source__c":"GARD:0005034","Xref__c":"MONDO:0008495"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GFI1B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:185050","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":"OMIM:185050","Feature__r":{"HPO_Description__c":"Average platelet volume below the lower limit of the normal reference interval.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005537","HPO_Synonym__c":"Small platelet size; Small platelets; Small platelets size","HPO_Name__c":"Decreased mean platelet volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:185050","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":"OMIM:185050","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":"OMIM:185050","Feature__r":{"HPO_Description__c":"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002488","HPO_Synonym__c":"Acute leukemias","HPO_Name__c":"Acute leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":["alpha delta granule deficiency"," alpha dense granule deficiency"," combined alpha-delta platelet storage pool deficiency"," delta storage pool disease"," dense body defect"," dense body deficiency"," nucleotide storage pool disorder"," platelet dense granule deficiency"," platelet storage organelle defect"," platelet storage pool defect"," platelet storage pool deficiency"," platelet storage pool diseases"," storage pool deficiency"," storage pool platelet disease"]}