{"Name":"Acute monocytic leukemia","DiseaseID__c":"GARD:0000525","id":525,"encodedName":"acute-monocytic-leukemia","IsDeleted":false,"Disease_Name_Full__c":"Acute monocytic leukemia","Xref_IDs__c":"22331004; 413441006; C0023465; C4861; C93.0; D007948; DOID:8864; HP:0004845; MEDGEN:7319; MONDO:0007896; OMIM:151380; ORPHA:514","USA_Estimate__c":"5,000","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":"8,000 to 80,000","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":1,"Description_Source__c":"MONDO:0007896","Disease_Description__c":"A form of acute myeloid leukemia that is either comprised of more than 80% of monoblasts or 30-80% monoblasts with (pro)monocytic differentiation. It presents with asthenia, pallor, fever, and dizziness. Specific features include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed is t(9;11).","GARD_Name__c":"Acute monocytic leukemia","GARD_Synonym__c":"acute monoblastic leukaemia; acute monoblastic leukaemia and acute monocytic leukaemia; acute monoblastic leukemia; acute monoblastic leukemia and acute monocytic leukemia; acute monoblastic or monocytic leukemia; acute monoblastic/monocytic leukemia; acute monocytic leukaemia; acute monocytic leukaemia (fab m5b); acute monocytic leukaemia without mention of remission; acute monocytic leukemia (fab m5b); acute monocytic leukemia without mention of remission; acute monocytic leukemia, fab m5; acute monocytic leukemia, morphology; acute monocytic leukemia, morphology (morphologic abnormality); aml m5; aml-m5; amol; fab m5; fab m5b; leukemia, monocytic, malignant; monocytic leukemia, acute","Curated_Disease_Description_Source__c":"ORPHA:514","Curated_Disease_Description__c":"Acute monoblastic/monocytic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML; see this term) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:514","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007896","ORPHANET_ID__c":"ORPHA:514","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Leucemia monoblástica aguda","Spanish_Description_Source__c":"ORPHA:514","Spanish_Description__c":"Es una forma de leucemia mieloide aguda (AML) que se caracteriza por presentar más de un 80% de monoblastos o 30-80% de monoblastos con diferenciación (pro)monocítica. Este tipo de leucemia se presenta con astenia, palidez, fiebre y mareos. Los hallazgos específicos incluyen hiperleucocitosis, propensión a la infiltración extramedular, anomalías de la coagulación, incluyendo la coagulación intravascular diseminada, y trastornos neurológicos. También se ha descrito leucemia cutis e infiltración gingival. Se ha descrito una translocación t (9; 11) característica.","Spanish_Disease_Name__c":"leucemia monoblástica aguda","Spanish_GARD_Synonym__c":"leucemia mieloblástica aguda tipo 5; leucemia monocítica aguda; mla-m5","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":"Acute monoblastic/monocytic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML; see this term) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).","Curated_Disease_Description_Source__c":"ORPHA:514","GARD_Synonym__c":"acute monoblastic leukaemia; acute monoblastic leukaemia and acute monocytic leukaemia; acute monoblastic leukemia; acute monoblastic leukemia and acute monocytic leukemia; acute monoblastic or monocytic leukemia; acute monoblastic/monocytic leukemia; acute monocytic leukaemia; acute monocytic leukaemia (fab m5b); acute monocytic leukaemia without mention of remission; acute monocytic leukemia (fab m5b); acute monocytic leukemia without mention of remission; acute monocytic leukemia, fab m5; acute monocytic leukemia, morphology; acute monocytic leukemia, morphology (morphologic abnormality); aml m5; aml-m5; amol; fab m5; fab m5b; leukemia, monocytic, malignant; monocytic leukemia, acute","Name":"Acute monocytic leukemia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cancer.net","Website__c":"https://www.cancer.net/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.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":"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":"Myeloid hemopathy","Tag_Category__c":"Account","curated_tag_name":"Blood or bone marrow disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:514"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0023465"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4861","Source__c":"C0023465; MONDO:0007896","Xref__c":"C4861"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=413441006","Source__c":"C0023465; MONDO:0007896","Xref__c":"413441006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=7319","Source__c":"C0023465","Xref__c":"MEDGEN:7319"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C007948","Source__c":"C0023465; MONDO:0007896","Xref__c":"D007948"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0023465","Source__c":"C0023465","Xref__c":"C0023465"},{"URL__c":"https://www.orpha.net/en/disease/detail/514","Source__c":"C0023465; MONDO:0007896","Xref__c":"ORPHA:514"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8864","Source__c":"MONDO:0007896","Xref__c":"DOID:8864"},{"URL__c":"https://www.omim.org/entry/151380","Source__c":"C0023465; MONDO:0007896","Xref__c":"OMIM:151380"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007896","Source__c":"GARD:0000525","Xref__c":"MONDO:0007896"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0004845","Source__c":"C0023465","Xref__c":"HP:0004845"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=22331004","Source__c":"C0023465","Xref__c":"22331004"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C93.0","Source__c":"MONDO:0007896","Xref__c":"C93.0"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002875","HPO_Synonym__c":"Exertional breathlessness; Shortness of breathing upon physical activity","HPO_Name__c":"Exertional dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012145","HPO_Name__c":"Abnormality of multiple cell lineages in the bone marrow","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:514","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004845","HPO_Synonym__c":"Acute monoblastic leukemia; AML-M5; AMoL","HPO_Name__c":"Acute monocytic leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001931","HPO_Synonym__c":"Hypochromic anemia","HPO_Name__c":"Hypochromic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011787","HPO_Name__c":"Central hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Edema affecting the region situated around the orbit of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100539","HPO_Synonym__c":"Periorbital cellulitis","HPO_Name__c":"Periorbital edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A progressive form of hearing impairment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001730","HPO_Synonym__c":"Progressive hearing loss","HPO_Name__c":"Progressive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001785","HPO_Synonym__c":"Ankle swelling","HPO_Name__c":"Ankle swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increase in the number or proportion of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100827","HPO_Synonym__c":"High lymphocyte count; Lymphocytosis","HPO_Name__c":"Increased total lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:514","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031020","HPO_Synonym__c":"Myeloid hyperplasia","HPO_Name__c":"Bone marrow hypercellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Enlarged lymph nodes in the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025289","HPO_Synonym__c":"Swollen lymph nodes in the neck","HPO_Name__c":"Cervical lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of desire to eat (loss of appetite).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002039","HPO_Synonym__c":"Anorexia; Deliberately not eating; Obsessive dieting; Refusing to eat","HPO_Name__c":"Anorexia","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:514","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Low output of urine, clinically classified as an output below 300-500ml/day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100520","HPO_Name__c":"Oliguria","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["acute monoblastic leukaemia"," acute monoblastic leukaemia and acute monocytic leukaemia"," acute monoblastic leukemia"," acute monoblastic leukemia and acute monocytic leukemia"," acute monoblastic or monocytic leukemia"," acute monoblastic/monocytic leukemia"," acute monocytic leukaemia"," acute monocytic leukaemia (fab m5b)"," acute monocytic leukaemia without mention of remission"," acute monocytic leukemia (fab m5b)"," acute monocytic leukemia without mention of remission"," acute monocytic leukemia, fab m5"," acute monocytic leukemia, morphology"," acute monocytic leukemia, morphology (morphologic abnormality)"," aml m5"," aml-m5"," amol"," fab m5"," fab m5b"," leukemia, monocytic, malignant"," monocytic leukemia, acute"]}