{"Name":"Sea-blue histiocyte syndrome","DiseaseID__c":"GARD:0008241","id":8241,"encodedName":"sea-blue-histiocyte-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Sea-blue histiocyte syndrome","Xref_IDs__c":"37821003; C0036489; C85062; D012618; DOID:4423; MEDGEN:19908; MONDO:0010017; OMIM:269600","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","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:0010017","Disease_Description__c":"A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.","GARD_Name__c":"Sea-blue histiocyte syndrome","GARD_Synonym__c":"inherited lipemic splenomegaly; sea-blue histiocyte; sea-blue histiocyte disease; sea-blue histiocytosis","Curated_Disease_Description_Source__c":"GARD:0008241","Curated_Disease_Description__c":"Sea-Blue histiocytosis, also known as inherited lipemic splenomegaly, is an extremely rare condition characterized by elevated triglyceride levels (hypertriglyceridemia) and an enlarged spleen (splenomegaly). The disorder is so named because certain white blood cells, known as histiocytes, appear bright blue when stained and viewed under the microscope. Additional signs and symptoms may include a low platelet count (thrombocytopenia), liver function abnormalities, and heart disease. It is one of a group of related fat (lipid) disorders caused by certain changes in the APOE gene. The genetic change associated with this condition is inherited in an autosomal dominant manner though other factors, such as a patient's sex, the patient's lipid levels, and the genetic makeup of the other APOE gene, may play a role in how the condition is expressed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:158029","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010017","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":"Sea-Blue histiocytosis, also known as inherited lipemic splenomegaly, is an extremely rare condition characterized by elevated triglyceride levels (hypertriglyceridemia) and an enlarged spleen (splenomegaly). The disorder is so named because certain white blood cells, known as histiocytes, appear bright blue when stained and viewed under the microscope. Additional signs and symptoms may include a low platelet count (thrombocytopenia), liver function abnormalities, and heart disease. It is one of a group of related fat (lipid) disorders caused by certain changes in the APOE gene. The genetic change associated with this condition is inherited in an autosomal dominant manner though other factors, such as a patient's sex, the patient's lipid levels, and the genetic makeup of the other APOE gene, may play a role in how the condition is expressed.","Curated_Disease_Description_Source__c":"GARD:0008241","GARD_Synonym__c":"inherited lipemic splenomegaly; sea-blue histiocyte; sea-blue histiocyte disease; sea-blue histiocytosis","Name":"Sea-blue histiocyte syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Histiocytosis Association","Website__c":"https://www.histio.org/"},{"Account_Name__c":"Histiocytosis Association of Canada","Website__c":"https://histiocytosis.ca/"}],"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":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0036489"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008241","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C012618","Source__c":"C0036489; MONDO:0010017","Xref__c":"D012618"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0036489","Source__c":"C0036489","Xref__c":"C0036489"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85062","Source__c":"C0036489; MONDO:0010017","Xref__c":"C85062"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=19908","Source__c":"C0036489","Xref__c":"MEDGEN:19908"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4423","Source__c":"MONDO:0010017","Xref__c":"DOID:4423"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=37821003","Source__c":"C0036489; MONDO:0010017","Xref__c":"37821003"},{"URL__c":"https://www.omim.org/entry/269600","Source__c":"C0036489; MONDO:0010017","Xref__c":"OMIM:269600"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010017","Source__c":"GARD:0008241","Xref__c":"MONDO:0010017"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001982","Source__c":"C0036489","Xref__c":"HP:0001982"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"APOE","GHR_URL__c":"https://medlineplus.gov/genetics/gene/apoe","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:269600","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":"OMIM:269600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001982","HPO_Synonym__c":"Sea-blue histiocyte","HPO_Name__c":"Sea-blue histiocytosis","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:269600","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"}},{"Provided_By__c":"OMIM:269600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003651","HPO_Synonym__c":"Foamy histiocytes; Foamy macrophages; Lipid-laden histiocytes; Presence of foam cells","HPO_Name__c":"Foam cells","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:269600","Feature__r":{"HPO_Description__c":"Absence of axillary hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002221","HPO_Name__c":"Absent axillary hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:269600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally high concentration in the circulation of alanine aminotransferase (ALT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031964","HPO_Synonym__c":"Alanine aminotransferase increased; Elevated serum alanine aminotransferase; Elevated serum ALT; Elevated serum glutamic-pyruvic transaminase","HPO_Name__c":"Elevated circulating alanine aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:269600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031956","HPO_Synonym__c":"Aspartate aminotransferase increased; Elevated serum aspartate aminotransferase; Elevated serum AST; Elevated serum glutamic oxaloacetic transaminase","HPO_Name__c":"Elevated circulating aspartate aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:269600","Feature__r":{"HPO_Description__c":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001394","HPO_Synonym__c":"Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver","HPO_Name__c":"Cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Lysosomal"],"Disease Category":["Genetics","Lysosomal"],"Specialist":["Genetics"],"Account":["Lysosomal"]},"synonyms":["inherited lipemic splenomegaly"," sea-blue histiocyte"," sea-blue histiocyte disease"," sea-blue histiocytosis"]}