{"Name":"Southeast Asian ovalocytosis","DiseaseID__c":"GARD:0016867","id":16867,"encodedName":"southeast-asian-ovalocytosis","IsDeleted":false,"Disease_Name_Full__c":"Southeast Asian ovalocytosis","Xref_IDs__c":"191169008; 723623002; C1862322; MEDGEN:350649; MONDO:0008165; OMIM:166900; ORPHA:98868","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":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":1,"Description_Source__c":"MONDO:0008165","Disease_Description__c":"Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.","GARD_Name__c":"Southeast Asian ovalocytosis","GARD_Synonym__c":"elliptocytosis 4; he, stomatocytic; melanesian elliptocytosis; melanesian ovalocytosis; ovalocytosis, malaysian-melanesian-filipino type; ovalocytosis, sa type; sao; stomatocytic elliptocytosis; stomatocytic elliptocytosis, hereditary","Curated_Disease_Description_Source__c":"ORPHA:98868","Curated_Disease_Description__c":"Southeast Asian ovalocytosis (SAO), also called stomatocytic elliptocytosis, is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:98868","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008165","ORPHANET_ID__c":"ORPHA:98868","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ovalocitosis del sudeste asiático","Spanish_Description_Source__c":"ORPHA:98868","Spanish_Description__c":"La ovalocitosis del sudeste asiático (OSA) es un defecto hereditario poco frecuente de la membrana de los glóbulos rojos, caracterizado por la presencia de eritrocitos ovalados; la mayoría de los pacientes son asintomáticos o manifiestan ocasionalmente síntomas leves tales como palidez, ictericia, anemia y cálculos biliares.","Spanish_Disease_Name__c":"ovalocitosis del sudeste asiático","Spanish_GARD_Synonym__c":"eliptocitosis estomatocítica; eliptocitosis melanesia; ovalocitosis hereditaria; ovalocitosis melanesia; sao","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":"Southeast Asian ovalocytosis (SAO), also called stomatocytic elliptocytosis, is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.","Curated_Disease_Description_Source__c":"ORPHA:98868","GARD_Synonym__c":"elliptocytosis 4; he, stomatocytic; melanesian elliptocytosis; melanesian ovalocytosis; ovalocytosis, malaysian-melanesian-filipino type; ovalocytosis, sa type; sao; stomatocytic elliptocytosis; stomatocytic elliptocytosis, hereditary","Name":"Southeast Asian ovalocytosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:98868"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/98868","Source__c":"C1862322; MONDO:0008165; ORPHA:98868","Xref__c":"ORPHA:98868"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350649","Source__c":"C1862322","Xref__c":"MEDGEN:350649"},{"URL__c":"https://www.omim.org/entry/166900","Source__c":"C1862322; MONDO:0008165; ORPHA:98868","Xref__c":"OMIM:166900"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862322","Source__c":"C1862322","Xref__c":"C1862322"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=191169008","Source__c":"MONDO:0008165","Xref__c":"191169008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008165","Source__c":"GARD:0016867","Xref__c":"MONDO:0008165"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723623002","Source__c":"C1862322","Xref__c":"723623002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC4A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc4a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98868","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:98868","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004445","HPO_Synonym__c":"Ovalocytes; Ovalocytosis","HPO_Name__c":"Elliptocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98868","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:98868","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020181","HPO_Name__c":"Reduced haptoglobin level","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:98868","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Larger than normal size of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005518","HPO_Synonym__c":"Erythrocyte macrocytosis; Increased MCV","HPO_Name__c":"Increased mean corpuscular volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98868","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004446","HPO_Synonym__c":"erythrocyte stomatocytes; Red cell stomatocytosis","HPO_Name__c":"Stomatocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98868","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001947","HPO_Synonym__c":"Accumulation of acid in body due to kidney problem","HPO_Name__c":"Renal tubular acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:98868","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98868","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:98868","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated level of the enzyme lactate dehydrogenase in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025435","HPO_Synonym__c":"Increased circulating LDH concentration; Increased lactate dehydrogenase level","HPO_Name__c":"Increased circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:98868","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased amount of unconjugated (indirect) bilurubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008282","HPO_Name__c":"Unconjugated hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:98868","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:98868","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034609","HPO_Synonym__c":"Polychromasia on peripheral blood smear","HPO_Name__c":"Polychromasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98868","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98868","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:98868","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of pallor that is secondary to the presence of anemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001017","HPO_Name__c":"Anemic pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["elliptocytosis 4"," he, stomatocytic"," melanesian elliptocytosis"," melanesian ovalocytosis"," ovalocytosis, malaysian-melanesian-filipino type"," ovalocytosis, sa type"," sao"," stomatocytic elliptocytosis"," stomatocytic elliptocytosis, hereditary"]}