{"Name":"Hereditary elliptocytosis","DiseaseID__c":"GARD:0006621","id":6621,"encodedName":"hereditary-elliptocytosis","IsDeleted":false,"Disease_Name_Full__c":"Hereditary elliptocytosis","Xref_IDs__c":"178935009; 191169008; C0013902; C35882; D004612; D58.1; DOID:2373; MEDGEN:41747; MONDO:0017319; ORPHA:288","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","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:0017319","Disease_Description__c":"Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.","GARD_Name__c":"Hereditary elliptocytosis","GARD_Synonym__c":"congenital elliptocytosis; hashimoto encephalopathy; he; he - hereditary elliptocytosis; hereditary ovalocytosis; ovalocytosis","Curated_Disease_Description_Source__c":"GARD:0006621","Curated_Disease_Description__c":"Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Some people with this condition have an enlarged spleen. Hereditary elliptocytosis is caused by a genetic change in either the EPB41, SPTA1, or SPTB gene, and is inherited in an autosomal dominant pattern. Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern. Diagnosis of this condition is made by looking at the shape of the red blood cells under a microscope.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:288","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017319","ORPHANET_ID__c":"ORPHA:288","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Eliptocitosis hereditaria","Spanish_Description_Source__c":"ORPHA:288","Spanish_Description__c":"La eliptocitosis hereditaria (ELH) es una alteración poco frecuente de la membrana de los eritrocitos, con manifestaciones clínica y genéticamente heterogéneas, caracterizada por anemia hemolítica que varía de leve a grave (transfusión- dependiente), pero que en la mayoría de pacientes es asintomática.","Spanish_Disease_Name__c":"eliptocitosis hereditaria","Spanish_GARD_Synonym__c":"he","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":"Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Some people with this condition have an enlarged spleen. Hereditary elliptocytosis is caused by a genetic change in either the EPB41, SPTA1, or SPTB gene, and is inherited in an autosomal dominant pattern. Hereditary pyropoikilocytosis is a related condition with more serious symptoms, and is inherited in an autosomal recessive pattern. Diagnosis of this condition is made by looking at the shape of the red blood cells under a microscope.","Curated_Disease_Description_Source__c":"GARD:0006621","GARD_Synonym__c":"congenital elliptocytosis; hashimoto encephalopathy; he; he - hereditary elliptocytosis; hereditary ovalocytosis; ovalocytosis","Name":"Hereditary elliptocytosis","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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:288"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006621","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0013902","Source__c":"C0013902","Xref__c":"C0013902"},{"URL__c":"https://www.orpha.net/en/disease/detail/288","Source__c":"C0013902; MONDO:0017319; ORPHA:288","Xref__c":"ORPHA:288"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=178935009","Source__c":"MONDO:0017319","Xref__c":"178935009"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D58.1","Source__c":"MONDO:0017319","Xref__c":"D58.1"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2373","Source__c":"MONDO:0017319","Xref__c":"DOID:2373"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C004612","Source__c":"C0013902; MONDO:0017319","Xref__c":"D004612"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35882","Source__c":"C0013902; MONDO:0017319","Xref__c":"C35882"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=41747","Source__c":"C0013902","Xref__c":"MEDGEN:41747"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017319","Source__c":"GARD:0006621","Xref__c":"MONDO:0017319"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=191169008","Source__c":"C0013902","Xref__c":"191169008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GYPC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"EPB41","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SPTA1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SPTB","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Occasional (5-29%)","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:288","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormally shaped erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004447","HPO_Name__c":"Poikilocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Occasional (5-29%)","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:288","HPO_Frequency__c":"Occasional (5-29%)","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:288","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001789","HPO_Name__c":"Hydrops fetalis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of hemolytic anemia with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004804","HPO_Synonym__c":"Congenital haemolytic anemia","HPO_Name__c":"Congenital hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased amount of bilirubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002904","HPO_Synonym__c":"High blood bilirubin levels","HPO_Name__c":"Hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:288","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:288","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006579","HPO_Synonym__c":"Neonatal jaundice; Prolonged yellowing of skin in newborn","HPO_Name__c":"Prolonged neonatal jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A sudden sensation of feeling cold.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025143","HPO_Synonym__c":"Chills","HPO_Name__c":"Chills","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Occasional (5-29%)","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:288","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Slow or limited growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008897","HPO_Synonym__c":"Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure","HPO_Name__c":"Postnatal growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of erythrocytes (red-blood cells).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001877","HPO_Synonym__c":"Abnormality of erythrocytes; Abnormality of red blood cells","HPO_Name__c":"Abnormal erythrocyte morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hard, pebble-like deposits that form within the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001081","HPO_Synonym__c":"Gallstones","HPO_Name__c":"Cholelithiasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Occasional (5-29%)","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:288","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Occasional (5-29%)","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:288","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hyperbilirubinemia with neonatal onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003265","HPO_Synonym__c":"High blood bilirubin levels in neonate; Hyperbilirubinemia, neonatal","HPO_Name__c":"Neonatal hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:288","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:288","HPO_Frequency__c":"Occasional (5-29%)","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:288","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["congenital elliptocytosis"," hashimoto encephalopathy"," he"," he - hereditary elliptocytosis"," hereditary ovalocytosis"," ovalocytosis"]}