{"Name":"Autosomal dominant aplasia and myelodysplasia","DiseaseID__c":"GARD:0017420","id":17420,"encodedName":"autosomal-dominant-aplasia-and-myelodysplasia","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant aplasia and myelodysplasia","Xref_IDs__c":"C3808553; MEDGEN:814883; MONDO:0013851; OMIM:614675; ORPHA:314399","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:314399","Disease_Description__c":"A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.","GARD_Name__c":"Autosomal dominant aplasia and myelodysplasia","GARD_Synonym__c":"autosomal dominant aplastic anaemia and myelodysplasia; autosomal dominant aplastic anemia and myelodysplasia; bone marrow failure syndrome 1; bone marrow failure syndrome type 1","Curated_Disease_Description_Source__c":"ORPHA:314399","Curated_Disease_Description__c":"A rare, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:314399","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013851","ORPHANET_ID__c":"ORPHA:314399","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aplasia y mielodisplasia autosómica dominante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"aplasia y mielodisplasia autosómica dominante","Spanish_GARD_Synonym__c":"anemia aplásica y mielodisplasia autosómicas dominantes","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, genetic, hematologic disorder characterized by bone marrow failure which manifests with aplastic anemia and/or myelodysplasia, associated with hearing/ear abnormalities (such as deafness, labyrinthitis), inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"ORPHA:314399","GARD_Synonym__c":"autosomal dominant aplastic anaemia and myelodysplasia; autosomal dominant aplastic anemia and myelodysplasia; bone marrow failure syndrome 1; bone marrow failure syndrome type 1","Name":"Autosomal dominant aplasia and myelodysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Aplastic Anemia and MDS International Foundation","Website__c":"https://www.aamds.org"}],"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":"Childhood","Provided_By__c":"ORPHA:314399"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=814883","Source__c":"C3808553","Xref__c":"MEDGEN:814883"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3808553","Source__c":"C3808553","Xref__c":"C3808553"},{"URL__c":"https://www.omim.org/entry/614675","Source__c":"C3808553; MONDO:0013851; ORPHA:314399","Xref__c":"OMIM:614675"},{"URL__c":"https://www.orpha.net/en/disease/detail/314399","Source__c":"C3808553; MONDO:0013851","Xref__c":"ORPHA:314399"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013851","Source__c":"GARD:0017420","Xref__c":"MONDO:0013851"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SRP72","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614675","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005528","HPO_Synonym__c":"Bone marrow failure; Bone marrow hypoplasia; Hypoplastic bone marrow; Myeloid hypoplasia","HPO_Name__c":"Bone marrow hypocellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614675","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002863","HPO_Synonym__c":"Myelodysplastic syndrome","HPO_Name__c":"Myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614675","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614675","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614675","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Aplastic anemia is defined as pancytopenia with a hypocellular marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001915","HPO_Name__c":"Aplastic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["autosomal dominant aplastic anaemia and myelodysplasia"," autosomal dominant aplastic anemia and myelodysplasia"," bone marrow failure syndrome 1"," bone marrow failure syndrome type 1"]}