{"Name":"Congenital amegakaryocytic thrombocytopenia 1","DiseaseID__c":"GARD:0000640","id":640,"encodedName":"congenital-amegakaryocytic-thrombocytopenia-1","IsDeleted":false,"Disease_Name_Full__c":"Congenital amegakaryocytic thrombocytopenia 1","Xref_IDs__c":"716336002; C115207; C535982; C5882667; DOID:0061005; DOID:0090118; MEDGEN:1845022; MONDO:0800452; OMIM:604498","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"8,000 to 80,000","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":0,"Description_Source__c":"MONDO:0800452","Disease_Description__c":"An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.","GARD_Name__c":"Congenital amegakaryocytic thrombocytopenia 1","GARD_Synonym__c":"amegakaryocytic thrombocytopenia, congenital 1; camt1; congenital amegakaryocytic thrombocytopenic purpura; thrombocytopenia, congenital amegakaryocytic","Curated_Disease_Description_Source__c":"MONDO:0800452","Curated_Disease_Description__c":"A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:3319","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0800452","ORPHANET_ID__c":"ORPHA:3319","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:3319","Spanish_Description__c":"Es una trombocitopenia constitucional caracterizada por una disminución aislada y grave del número de plaquetas y megacariocitos durante los primeros años de vida que evoluciona posteriormente en la infancia a insuficiencia de la médula ósea con pancitopenia.","Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"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 inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.","Curated_Disease_Description_Source__c":"MONDO:0800452","GARD_Synonym__c":"amegakaryocytic thrombocytopenia, congenital 1; camt1; congenital amegakaryocytic thrombocytopenic purpura; thrombocytopenia, congenital amegakaryocytic","Name":"Congenital amegakaryocytic thrombocytopenia 1","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Inherited Bone Marrow Failure Syndrome Research Studies","Website__c":"https://www.marrowfailure.cancer.gov/"},{"Account_Name__c":"Platelet Disorder Support Association","Website__c":"https://www.pdsa.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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1327915"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000640","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1845022","Source__c":"C5882667","Xref__c":"MEDGEN:1845022"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5882667","Source__c":"C5882667","Xref__c":"C5882667"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716336002","Source__c":"MONDO:0800452","Xref__c":"716336002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535982","Source__c":"MONDO:0800452","Xref__c":"C535982"},{"URL__c":"https://www.omim.org/entry/604498","Source__c":"C5882667; MONDO:0800452","Xref__c":"OMIM:604498"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C115207","Source__c":"MONDO:0800452","Xref__c":"C115207"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090118","Source__c":"MONDO:0800452","Xref__c":"DOID:0090118"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061005","Source__c":"MONDO:0800452","Xref__c":"DOID:0061005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0800452","Source__c":"GARD:0000640","Xref__c":"MONDO:0800452"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MPL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mpl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:604498","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604498","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:604498","Feature__r":{"HPO_Description__c":"Underdevelopment of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001320","HPO_Synonym__c":"Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis","HPO_Name__c":"Cerebellar vermis hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604498","Feature__r":{"HPO_Description__c":"Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004859","HPO_Name__c":"Amegakaryocytic thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604498","Feature__r":{"HPO_Description__c":"A reduced count of megakaryocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005548","HPO_Synonym__c":"Megakaryocytes decreased im bone marrow","HPO_Name__c":"Megakaryocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":["amegakaryocytic thrombocytopenia, congenital 1"," camt1"," congenital amegakaryocytic thrombocytopenic purpura"," thrombocytopenia, congenital amegakaryocytic"]}