{"Name":"Congenital dyserythropoietic anemia type 4","DiseaseID__c":"GARD:0017344","id":17344,"encodedName":"congenital-dyserythropoietic-anemia-type-4","IsDeleted":false,"Disease_Name_Full__c":"Congenital dyserythropoietic anemia type 4","Xref_IDs__c":"719453009; C157148; C3150926; DOID:0111400; MEDGEN:462276; MONDO:0013355; OMIM:613673; ORPHA:293825","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":2,"Description_Source__c":"MONDO:0013355","Disease_Description__c":"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.","GARD_Name__c":"Congenital dyserythropoietic anemia type 4","GARD_Synonym__c":"anemia, congenital dyserythropoietic, type iva; cda due to klf1 mutation; cda iv; cda type 4; cda type iv; cda, type iva; cdan4; congenital dyserythropoietic anaemia due to klf1 mutation; congenital dyserythropoietic anemia due to klf1 mutation; congenital dyserythropoietic anemia type iv; congenital dyserythropoietic anemia, type iv; dyserythropoietic anemia, congenital, type iv","Curated_Disease_Description_Source__c":"ORPHA:293825","Curated_Disease_Description__c":"Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:293825","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013355","ORPHANET_ID__c":"ORPHA:293825","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia diseritropoyética congénita tipo iv","Spanish_Description_Source__c":"ORPHA:293825","Spanish_Description__c":"La anemia diseritropoyética congénita de tipo IV (ADC IV) es una forma de ADC (ver este término) descubierta recientemente que se caracteriza por una eritropoyesis y una hemólisis ineficaces que provocan una anemia grave al nacer.","Spanish_Disease_Name__c":"anemia diseritropoyética congénita tipo iv","Spanish_GARD_Synonym__c":"anemia diseritropoyética congénita por una mutación en el gen klf1; anemia diseritropoyética congénita tipo 4; ccam tipo 4; ccam tipo iv; cda iv; cda por una mutación en el gen klf1; cdan4","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 IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.","Curated_Disease_Description_Source__c":"ORPHA:293825","GARD_Synonym__c":"anemia, congenital dyserythropoietic, type iva; cda due to klf1 mutation; cda iv; cda type 4; cda type iv; cda, type iva; cdan4; congenital dyserythropoietic anaemia due to klf1 mutation; congenital dyserythropoietic anemia due to klf1 mutation; congenital dyserythropoietic anemia type iv; congenital dyserythropoietic anemia, type iv; dyserythropoietic anemia, congenital, type iv","Name":"Congenital dyserythropoietic anemia type 4","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":"Neonatal","Provided_By__c":"ORPHA:293825"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:293825"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/613673","Source__c":"C3150926; MONDO:0013355","Xref__c":"OMIM:613673"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719453009","Source__c":"C3150926; MONDO:0013355","Xref__c":"719453009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111400","Source__c":"MONDO:0013355","Xref__c":"DOID:0111400"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150926","Source__c":"C3150926","Xref__c":"C3150926"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462276","Source__c":"C3150926","Xref__c":"MEDGEN:462276"},{"URL__c":"https://www.orpha.net/en/disease/detail/293825","Source__c":"C3150926; MONDO:0013355; ORPHA:293825","Xref__c":"ORPHA:293825"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013355","Source__c":"GARD:0017344","Xref__c":"MONDO:0013355"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C157148","Source__c":"C3150926","Xref__c":"C157148"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KLF1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/klf1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613673","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal reduction below normal hemoglobin concentration in the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020062","HPO_Synonym__c":"Decreased Hb concentration","HPO_Name__c":"Decreased hemoglobin concentration","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012132","HPO_Name__c":"Erythroid hyperplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031965","HPO_Synonym__c":"Increased red blood cell distribution width","HPO_Name__c":"Increased RBC distribution width","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","HPO_Frequency__c":"Very frequent (80-99%)","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:613673","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:613673","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:613673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011904","HPO_Synonym__c":"Increased hemoglobin F; Persistence of HbF","HPO_Name__c":"Persistence of hemoglobin F","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:613673","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"OMIM:613673","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:613673","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":"OMIM:613673","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001981","HPO_Synonym__c":"Schistocytes","HPO_Name__c":"Schistocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of nucleated red blood cells in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033281","HPO_Name__c":"Circulating nucleated red blood cells","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:613673","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","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":"OMIM:613673","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:613673","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","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":"OMIM:613673","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031851","HPO_Synonym__c":"Low hematocrit; Reduced Hct","HPO_Name__c":"Reduced hematocrit","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","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":"OMIM:613673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000054","HPO_Synonym__c":"Short penis; Small penis","HPO_Name__c":"Micropenis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","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":"OMIM:613673","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":"OMIM:613673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613673","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlargement of the anterior fontanelle with respect to age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000260","HPO_Synonym__c":"Large anterior fontanel; Large anterior fontanelle; Large open anterior fontanel; Large open anterior fontanelle; Wide anterior fontanelle; Wide open anterior fontanelle; Wider-than-typical soft spot of skull","HPO_Name__c":"Wide anterior fontanel","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["anemia, congenital dyserythropoietic, type iva"," cda due to klf1 mutation"," cda iv"," cda type 4"," cda type iv"," cda, type iva"," cdan4"," congenital dyserythropoietic anaemia due to klf1 mutation"," congenital dyserythropoietic anemia due to klf1 mutation"," congenital dyserythropoietic anemia type iv"," congenital dyserythropoietic anemia, type iv"," dyserythropoietic anemia, congenital, type iv"]}