{"Name":"Sickle cell-hemoglobin E disease syndrome","DiseaseID__c":"GARD:0020700","id":20700,"encodedName":"sickle-cell-hemoglobin-e-disease-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Sickle cell-hemoglobin E disease syndrome","Xref_IDs__c":"C1112747; C155307; MEDGEN:1669602; MONDO:0016671; ORPHA:251375","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016671","Disease_Description__c":"A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, very rarely, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance (65+/-5%).","GARD_Name__c":"Sickle cell-hemoglobin E disease syndrome","GARD_Synonym__c":"double heterozygous for hb s + hb e; hbs-hbe disease; hbse disease; hemoglobin s-e disease; hemoglobin s/e disease; sickle cell anemia with hemoglobin e disease; sickle cell-hemoglobin e disease","Curated_Disease_Description_Source__c":"ORPHA:251375","Curated_Disease_Description__c":"A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, in some cases, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:251375","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016671","ORPHANET_ID__c":"ORPHA:251375","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia falciforme s-e","Spanish_Description_Source__c":"ORPHA:251375","Spanish_Description__c":"Es una hemoglobinopatía poco frecuente de origen genético que suele caracterizarse por una leve hemólisis microcítica y, muy raramente, por complicaciones vaso-oclusivas. También se ha descrito la presencia de manifestaciones graves, como hematuria, infarto esplénico, síndrome torácico agudo, episodios agudos de dolor y necrosis reversible de médula ósea. El genotipo se caracteriza por un alelo HbS en combinación con una variante HbE (beta26glu>lys); los síntomas se deben a la baja expresión alélica de la HbE, que conduce al predominio de la HbS (65 +/- 5%).","Spanish_Disease_Name__c":"anemia falciforme s-e","Spanish_GARD_Synonym__c":"anemia de células falciformes s-e; anemia de células falciformes-hemoglobina e; anemia falciforme-hemoglobina e; enfermedad de la hemoglobina s-e; enfermedad hbse","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":"A rare, genetic hemoglobinopathy usually characterized by mild microcytic hemolysis and, in some cases, vaso-occlusive complications. Severe manifestations have been reported, including hematuria, splenic infarction, acute chest syndrome, acute episodes of pain and reversible bone marrow necrosis. The genotype is characterized by an HbS allele in combination with an HbE variant (beta26glu>lys); symptoms are due to the low allelic expression of HbE leading to HbS predominance.","Curated_Disease_Description_Source__c":"ORPHA:251375","GARD_Synonym__c":"double heterozygous for hb s + hb e; hbs-hbe disease; hbse disease; hemoglobin s-e disease; hemoglobin s/e disease; sickle cell anemia with hemoglobin e disease; sickle cell-hemoglobin e disease","Name":"Sickle cell-hemoglobin E disease syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Sickle Cell Consortium","Website__c":"https://sicklecellconsortium.org/"},{"Account_Name__c":"Sickle Cell Disease Association of America","Website__c":"https://www.sicklecelldisease.org/"},{"Account_Name__c":"Sickle Cell Disease Foundation","Website__c":"https://www.scdfc.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:251375"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1669602","Source__c":"C1112747","Xref__c":"MEDGEN:1669602"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1112747","Source__c":"C1112747","Xref__c":"C1112747"},{"URL__c":"https://www.orpha.net/en/disease/detail/251375","Source__c":"C1112747; MONDO:0016671; ORPHA:251375","Xref__c":"ORPHA:251375"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=47024008","Source__c":"C1112747","Xref__c":"47024008"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C155307","Source__c":"C1112747","Xref__c":"C155307"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016671","Source__c":"GARD:0020700","Xref__c":"MONDO:0016671"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HBB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hbb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["double heterozygous for hb s + hb e"," hbs-hbe disease"," hbse disease"," hemoglobin s-e disease"," hemoglobin s/e disease"," sickle cell anemia with hemoglobin e disease"," sickle cell-hemoglobin e disease"]}