{"Name":"Congenital dyserythropoietic anemia, type III","DiseaseID__c":"GARD:0002002","id":2002,"encodedName":"congenital-dyserythropoietic-anemia-type-iii","IsDeleted":false,"Disease_Name_Full__c":"Congenital dyserythropoietic anemia, type III","Xref_IDs__c":"26409005; C5676874; DOID:0111399; MEDGEN:1801596; MONDO:0007109; OMIM:105600; ORPHA:98870","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:0007109","Disease_Description__c":"A rare form of congenital dyserythropoietic anemia (CDA) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.","GARD_Name__c":"Congenital dyserythropoietic anemia, type III","GARD_Synonym__c":"anemia with multinucleated erythroblasts; cda iii; cda type 3; cda type iii; cdan3a; congenital dyserythropoietic anemia type 3; congenital dyserythropoietic anemia type iii; dyserythropoietic anemia, congenital type 3; dyserythropoietic anemia, congenital, type iii; erythroreticulosis, hereditary benign","Curated_Disease_Description_Source__c":"MONDO:0007109","Curated_Disease_Description__c":"A rare form of congenital dyserythropoietic anemia (CDA) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.","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:98870","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007109","ORPHANET_ID__c":"ORPHA:98870","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia diseritropoyética congénita tipo iii","Spanish_Description_Source__c":"ORPHA:98870","Spanish_Description__c":"Es una forma poco frecuente de anemia diseritropoyética congénita (ADC) caracterizada por diseritropoyesis, con grandes eritroblastos multinucleados en la médula ósea y que se manifiesta con anemia de leve a moderada.","Spanish_Disease_Name__c":"anemia diseritropoyética congénita tipo iii","Spanish_GARD_Synonym__c":"anemia diseritropoyética congénita tipo 3; cda iii; cda tipo 3; cda tipo iii","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":"A rare form of congenital dyserythropoietic anemia (CDA) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.","Curated_Disease_Description_Source__c":"MONDO:0007109","GARD_Synonym__c":"anemia with multinucleated erythroblasts; cda iii; cda type 3; cda type iii; cdan3a; congenital dyserythropoietic anemia type 3; congenital dyserythropoietic anemia type iii; dyserythropoietic anemia, congenital type 3; dyserythropoietic anemia, congenital, type iii; erythroreticulosis, hereditary benign","Name":"Congenital dyserythropoietic anemia, type III","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:98870"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0271934"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002002","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=26409005","Source__c":"MONDO:0007109","Xref__c":"26409005"},{"URL__c":"https://www.omim.org/entry/105600","Source__c":"C5676874; MONDO:0007109","Xref__c":"OMIM:105600"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1801596","Source__c":"C5676874","Xref__c":"MEDGEN:1801596"},{"URL__c":"https://www.orpha.net/en/disease/detail/98870","Source__c":"C5676874; MONDO:0007109","Xref__c":"ORPHA:98870"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5676874","Source__c":"C5676874","Xref__c":"C5676874"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111399","Source__c":"MONDO:0007109","Xref__c":"DOID:0111399"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007109","Source__c":"GARD:0002002","Xref__c":"MONDO:0007109"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KIF23","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kif23","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Frequent (30-79%)","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:98870","HPO_Frequency__c":"Frequent (30-79%)","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:98870","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012130","HPO_Synonym__c":"Abnormality of cells of the erythroid lineage","HPO_Name__c":"Abnormal erythroid lineage cell morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased variability in the size of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011273","HPO_Synonym__c":"Unequal size of red blood cells","HPO_Name__c":"Anisocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000225","HPO_Synonym__c":"Bleeding gums; Gingival hemorrhage; Gingivorrhagia","HPO_Name__c":"Gingival bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Occasional (5-29%)","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:98870","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025035","HPO_Name__c":"Abnormal proerythroblast morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of cellular morphology or physiology.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025354","HPO_Name__c":"Abnormal cellular phenotype","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025196","HPO_Name__c":"Increased total iron binding capacity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Very frequent (80-99%)","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:98870","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent or excessive bleeding from the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030140","HPO_Synonym__c":"Bleeding from mouth; Oral cavity bleeding; Oral cavity hemorrhage","HPO_Name__c":"Oral cavity bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98870","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:98870","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of iron in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003452","HPO_Synonym__c":"Increased serum iron","HPO_Name__c":"Increased circulating iron concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002249","HPO_Name__c":"Melena","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Significant maternal hemorrhage/blood loss following deilvery of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011891","HPO_Synonym__c":"Bleeding post-delivery; Post-partum hemorrhage","HPO_Name__c":"Post-partum hemorrhage","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98870","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["anemia with multinucleated erythroblasts"," cda iii"," cda type 3"," cda type iii"," cdan3a"," congenital dyserythropoietic anemia type 3"," congenital dyserythropoietic anemia type iii"," dyserythropoietic anemia, congenital type 3"," dyserythropoietic anemia, congenital, type iii"," erythroreticulosis, hereditary benign"]}