{"Name":"Congenital dyserythropoietic anemia, type II","DiseaseID__c":"GARD:0002001","id":2001,"encodedName":"congenital-dyserythropoietic-anemia-type-ii","IsDeleted":false,"Disease_Name_Full__c":"Congenital dyserythropoietic anemia, type II","Xref_IDs__c":"68870007; C1306589; C175991; DOID:0111401; MEDGEN:266296; MONDO:0009134; OMIM:224100; ORPHA:98873","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":6,"Description_Source__c":"MONDO:0009134","Disease_Description__c":"Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.","GARD_Name__c":"Congenital dyserythropoietic anemia, type II","GARD_Synonym__c":"cda ii; cda type 2; cda type ii; cdan2; congenital dyserythropoietic anemia type 2; congenital dyserythropoietic anemia type ii; dyserythropoietic anemia, congenital, type ii; dyserythropoietic anemia, hempas type; hempas - hereditary erythroblast multinuclearity with positive acid serum test; hereditary erythroblast multinuclearity with positive acid serum test; hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); sec23b-cdg","Curated_Disease_Description_Source__c":"GARD:0002001","Curated_Disease_Description__c":"Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. CDA type II usually results from genetic changes in the SEC23B gene. It is inherited in an autosomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:98873","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009134","ORPHANET_ID__c":"ORPHA:98873","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia diseritropoyética congénita tipo ii","Spanish_Description_Source__c":"ORPHA:98873","Spanish_Description__c":"La anemia diseritropoyética de tipo II (ADC II) es el tipo más frecuente de ADC (ver este término), y se caracteriza por anemia, ictericia y esplenomegalia; a menudo provoca sobrecarga de hierro y cálculos biliares.","Spanish_Disease_Name__c":"anemia diseritropoyética congénita tipo ii","Spanish_GARD_Synonym__c":"anemia diseritropoyética congénita tipo 2; cda ii; cda tipo 2; cda tipo ii; hempas; multinuclearidad eritroblástica hereditaria con prueba de suero acidificado positiva; sec23b-cdg","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":"Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder characterized by mild to severe anemia. It is usually diagnosed in adolescence or early adulthood. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly) and gallstones. This condition also causes the body to absorb too much iron, which builds up and can damage tissues and organs. In particular, iron overload can lead to an abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA type II have mediastinal tumors. CDA type II usually results from genetic changes in the SEC23B gene. It is inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0002001","GARD_Synonym__c":"cda ii; cda type 2; cda type ii; cdan2; congenital dyserythropoietic anemia type 2; congenital dyserythropoietic anemia type ii; dyserythropoietic anemia, congenital, type ii; dyserythropoietic anemia, hempas type; hempas - hereditary erythroblast multinuclearity with positive acid serum test; hereditary erythroblast multinuclearity with positive acid serum test; hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); sec23b-cdg","Name":"Congenital dyserythropoietic anemia, type II","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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98873"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:98873"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:98873"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98873"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98873"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98873"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1306589"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002001","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/98873","Source__c":"C1306589; MONDO:0009134; ORPHA:98873","Xref__c":"ORPHA:98873"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1306589","Source__c":"C1306589","Xref__c":"C1306589"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=266296","Source__c":"C1306589","Xref__c":"MEDGEN:266296"},{"URL__c":"https://www.omim.org/entry/224100","Source__c":"C1306589; MONDO:0009134; ORPHA:98873","Xref__c":"OMIM:224100"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=68870007","Source__c":"C1306589; MONDO:0009134","Xref__c":"68870007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111401","Source__c":"MONDO:0009134","Xref__c":"DOID:0111401"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009134","Source__c":"GARD:0002001","Xref__c":"MONDO:0009134"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C175991","Source__c":"C1306589","Xref__c":"C175991"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SEC23B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sec23b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:224100","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":"OMIM:224100","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:224100","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":"OMIM:224100","Feature__r":{"HPO_Description__c":"An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003655","HPO_Synonym__c":"Deficient N-acetylglucosaminyltransferase II","HPO_Name__c":"Reduced level of N-acetylglucosaminyltransferase II","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:224100","Feature__r":{"HPO_Description__c":"A kind of anemia characterized by inadequate production of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010972","HPO_Synonym__c":"Anemia, dyserythropoietic; Defective erythropoiesis; Dyserythropoietic anemia; Ineffective erythropoiesis","HPO_Name__c":"Anemia of inadequate production","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:224100","Feature__r":{"HPO_Description__c":"An increase in the number of chromosome sets per cell in bone marrow cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003352","HPO_Name__c":"Endopolyploidy on chromosome studies of bone marrow","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:224100","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["cda ii"," cda type 2"," cda type ii"," cdan2"," congenital dyserythropoietic anemia type 2"," congenital dyserythropoietic anemia type ii"," dyserythropoietic anemia, congenital, type ii"," dyserythropoietic anemia, hempas type"," hempas - hereditary erythroblast multinuclearity with positive acid serum test"," hereditary erythroblast multinuclearity with positive acid serum test"," hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)"," sec23b-cdg"]}