{"Name":"Hereditary spherocytosis type 5","DiseaseID__c":"GARD:0015578","id":15578,"encodedName":"hereditary-spherocytosis-type-5","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spherocytosis type 5","Xref_IDs__c":"C2675192; C567202; DOID:0110920; MEDGEN:436371; MONDO:0012985; OMIM:612690","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012985","Disease_Description__c":"Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.","GARD_Name__c":"Hereditary spherocytosis type 5","GARD_Synonym__c":"epb42 hereditary spherocytosis; epb42-related hereditary spherocytosis; epb42-related spherocytosis; hereditary spherocytosis 5; hereditary spherocytosis caused by mutation in epb42; hs5; sph5","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Spherocytosis type 5 is a genetic blood condition. It is characterized as a chronic nonimmune hemolytic anemia. This means it's a long-term (chronic) condition where the red blood cells are destroyed faster than they can be produced (hemolytic anemia). It also means it is not due to dysfunction of the immune system (nonimmune). Rather, is caused by mutations in the EPB42 gene, which leads to the production of defective red blood cells. In some cases, babies with this condition present with a yellowish tint to their skin and whites of the eyes shortly after birth. In other cases, symptoms present later in childhood following a viral infection which causes a rapid decrease in red blood cells (hemolytic crisis). In these cases, the condition can cause the bone marrow to stop producing red blood cells (aplastic crisis). Both situations lead to a shortage of red blood cells (anemia) in the body. In addition to anemia, this condition can cause an enlarged spleen (splenomegaly). It may also cause the formation of gallstones (cholelithiasis). Spherocytosis, type 5 is inherited in an autosomal recessive pattern. This means that two copies of the mutated gene are required to cause the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:612690","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012985","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Spherocytosis type 5 is a genetic blood condition. It is characterized as a chronic nonimmune hemolytic anemia. This means it's a long-term (chronic) condition where the red blood cells are destroyed faster than they can be produced (hemolytic anemia). It also means it is not due to dysfunction of the immune system (nonimmune). Rather, is caused by mutations in the EPB42 gene, which leads to the production of defective red blood cells. In some cases, babies with this condition present with a yellowish tint to their skin and whites of the eyes shortly after birth. In other cases, symptoms present later in childhood following a viral infection which causes a rapid decrease in red blood cells (hemolytic crisis). In these cases, the condition can cause the bone marrow to stop producing red blood cells (aplastic crisis). Both situations lead to a shortage of red blood cells (anemia) in the body. In addition to anemia, this condition can cause an enlarged spleen (splenomegaly). It may also cause the formation of gallstones (cholelithiasis). Spherocytosis, type 5 is inherited in an autosomal recessive pattern. This means that two copies of the mutated gene are required to cause the disease.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"epb42 hereditary spherocytosis; epb42-related hereditary spherocytosis; epb42-related spherocytosis; hereditary spherocytosis 5; hereditary spherocytosis caused by mutation in epb42; hs5; sph5","Name":"Hereditary spherocytosis type 5","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK190102","Source__c":"Gene Review","Xref__c":"NBK190102"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110920","Source__c":"MONDO:0012985","Xref__c":"DOID:0110920"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2675192","Source__c":"C2675192","Xref__c":"C2675192"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567202","Source__c":"MONDO:0012985","Xref__c":"C567202"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=436371","Source__c":"C2675192","Xref__c":"MEDGEN:436371"},{"URL__c":"https://www.omim.org/entry/612690","Source__c":"C2675192; MONDO:0012985","Xref__c":"OMIM:612690"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012985","Source__c":"GARD:0015578","Xref__c":"MONDO:0012985"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EPB42","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612690","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612690","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612690","Feature__r":{"HPO_Description__c":"The presence of erythrocytes that are sphere-shaped.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004444","HPO_Name__c":"Spherocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612690","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612690","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005502","HPO_Synonym__c":"Increased erythrocyte osmotic fragility; Increased red cell fragility","HPO_Name__c":"Increased red cell osmotic fragility","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612690","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{},"synonyms":["epb42 hereditary spherocytosis"," epb42-related hereditary spherocytosis"," epb42-related spherocytosis"," hereditary spherocytosis 5"," hereditary spherocytosis caused by mutation in epb42"," hs5"," sph5"]}