{"Name":"14q32 duplication syndrome","DiseaseID__c":"GARD:0017890","id":17890,"encodedName":"14q32-duplication-syndrome","IsDeleted":false,"Disease_Name_Full__c":"14q32 duplication syndrome","Xref_IDs__c":"1234830005; C4225449; MEDGEN:896239; MONDO:0014707; OMIM:616604; ORPHA:488280","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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014707","Disease_Description__c":"14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.","GARD_Name__c":"14q32 duplication syndrome","GARD_Synonym__c":"chromosome 14q32 duplication syndrome, 700-kb; dup(14)q(32); myeloproliferative neoplasms, familial, susceptibility to; predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication; trisomy 14q32","Curated_Disease_Description_Source__c":"ORPHA:488280","Curated_Disease_Description__c":"14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:488280","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014707","ORPHANET_ID__c":"ORPHA:488280","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación 14q32","Spanish_Description_Source__c":"ORPHA:488280","Spanish_Description__c":"El síndrome de duplicación 14q32 es un síndrome poco frecuentede anomalías cromosómicas que resulta de la duplicación parcial del brazo largo del cromosoma 14, lo que predispone a una serie de neoplasias mieloides de inicio en la edad adulta, que incluyen la leucemia mieloide aguda, la leucemia mielomonocítica crónica y, especialmente, la trombocitemia esencial. Es posible observar una progresión a mielofibrosis y leucemia mieloide aguda secundaria.","Spanish_Disease_Name__c":"síndrome de duplicación 14q32","Spanish_GARD_Synonym__c":"dup(14)q(32); predisposición a neoplasia mieloproliferativa de inicio en el adulto por duplicación 14q32; trisomía 14q32","Category_Linearization__c":"ORPHA:250908","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":"14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed.","Curated_Disease_Description_Source__c":"ORPHA:488280","GARD_Synonym__c":"chromosome 14q32 duplication syndrome, 700-kb; dup(14)q(32); myeloproliferative neoplasms, familial, susceptibility to; predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication; trisomy 14q32","Name":"14q32 duplication syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Myeloid hemopathy","Tag_Category__c":"Account","curated_tag_name":"Blood or bone marrow disease"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:488280"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/488280","Source__c":"C4225449; MONDO:0014707; ORPHA:488280","Xref__c":"ORPHA:488280"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225449","Source__c":"C4225449","Xref__c":"C4225449"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=896239","Source__c":"C4225449","Xref__c":"MEDGEN:896239"},{"URL__c":"https://www.omim.org/entry/616604","Source__c":"C4225449; MONDO:0014707; ORPHA:488280","Xref__c":"OMIM:616604"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1234830005","Source__c":"C4225449","Xref__c":"1234830005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014707","Source__c":"GARD:0017890","Xref__c":"MONDO:0014707"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616604","Feature__r":{"HPO_Description__c":"Replacement of bone marrow by fibrous tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011974","HPO_Name__c":"Myelofibrosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616604","Feature__r":{"HPO_Description__c":"A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012325","HPO_Name__c":"Chronic myelomonocytic leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616604","Feature__r":{"HPO_Description__c":"A form of leukemia characterized by overproduction of an early myeloid cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004808","HPO_Synonym__c":"Acute myeloblastic leukemia; Acute myelocytic leukemia; Acute myelogenous leukemia; AML","HPO_Name__c":"Acute myeloid leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Hematology"],"Disease Category":["Cancer","Genetics","Hematology","Congenital Abnormality"],"Account":["Chromosomal Anomaly","Myeloid hemopathy"],"Cause":["Chromosomal Anomaly","Genetics"]},"synonyms":["chromosome 14q32 duplication syndrome, 700-kb"," dup(14)q(32)"," myeloproliferative neoplasms, familial, susceptibility to"," predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication"," trisomy 14q32"]}