{"Name":"Congenital dyserythropoietic anemia, type I","DiseaseID__c":"GARD:0002000","id":2000,"encodedName":"congenital-dyserythropoietic-anemia-type-i","IsDeleted":false,"Disease_Name_Full__c":"Congenital dyserythropoietic anemia, type I","Xref_IDs__c":"59548005; C0271933; DOID:0111396; MEDGEN:82891; MONDO:0020337; NBK5313; ORPHA:98869","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0020337","Disease_Description__c":"Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.","GARD_Name__c":"Congenital dyserythropoietic anemia, type I","GARD_Synonym__c":"cda i; cda type 1; cda type i; congenital dyserythropoietic anemia type 1; congenital dyserythropoietic anemia type i; dyserythropoietic anemia, congenital type 1","Curated_Disease_Description_Source__c":"GARD:0002000","Curated_Disease_Description__c":"Congenital dyserythropoietic anemia (CDA) type 1 is an inherited blood disorder characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). 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 I are born with skeletal abnormalities, most often involving the fingers and/or toes. CDA type I usually results from genetic changes in the CDAN1 (about 90% of the cases) and C150RF41 genes (about 1% of the cases). In about 9% of the cases no cause can be identified. 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:98869","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020337","ORPHANET_ID__c":"ORPHA:98869","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia diseritropoyética congénita tipo i","Spanish_Description_Source__c":"ORPHA:98869","Spanish_Description__c":"La anemia eritropoyética congénita de tipo I (ADC I) es un trastorno hematológico de la eritropoyesis caracterizado por anemia macrocítica de moderada a grave, ocasionalmente asociada con deformación de las extremidades o de las uñas y escoliosis.","Spanish_Disease_Name__c":"anemia diseritropoyética congénita tipo i","Spanish_GARD_Synonym__c":"anemia diseritropoyética congénita tipo 1; cda i; cda tipo 1; cda tipo i","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 (CDA) type 1 is an inherited blood disorder characterized by moderate to severe anemia. It is usually diagnosed in childhood or adolescence, although in some cases, the condition can be detected before birth. Many affected individuals have yellowing of the skin and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). 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 I are born with skeletal abnormalities, most often involving the fingers and/or toes. CDA type I usually results from genetic changes in the CDAN1 (about 90% of the cases) and C150RF41 genes (about 1% of the cases). In about 9% of the cases no cause can be identified. It is inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0002000","GARD_Synonym__c":"cda i; cda type 1; cda type i; congenital dyserythropoietic anemia type 1; congenital dyserythropoietic anemia type i; dyserythropoietic anemia, congenital type 1","Name":"Congenital dyserythropoietic anemia, type I","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Fundación Medicamentos Huérfanos y Enfermedades Raras","Website__c":"http://www.fundacionmehuer.es"},{"Account_Name__c":"Centro de Investigación Biomédica en Red de Enfermedades Raras","Website__c":"http://www.ciberer.es/"}],"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:98869"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98869"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:98869"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98869"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:98869"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0271933"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002000","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK5313","Source__c":"Gene Review","Xref__c":"NBK5313"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111396","Source__c":"MONDO:0020337","Xref__c":"DOID:0111396"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=59548005","Source__c":"C0271933; MONDO:0020337","Xref__c":"59548005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82891","Source__c":"C0271933","Xref__c":"MEDGEN:82891"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271933","Source__c":"C0271933","Xref__c":"C0271933"},{"URL__c":"https://www.orpha.net/en/disease/detail/98869","Source__c":"C0271933; MONDO:0020337; ORPHA:98869","Xref__c":"ORPHA:98869"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020337","Source__c":"GARD:0002000","Xref__c":"MONDO:0020337"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CDAN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdan1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CDIN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdin1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["cda i"," cda type 1"," cda type i"," congenital dyserythropoietic anemia type 1"," congenital dyserythropoietic anemia type i"," dyserythropoietic anemia, congenital type 1"],"spanishId":12865,"spanishName":"anemia-diseritropoyetica-congenita-tipo-1"}