Leukemia, Acute Promyelocytic, Somatic malady
Categories: Genetic diseases, Rare diseases, Cancer diseases, Blood diseases, Immune diseases
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Aliases & Descriptions for Leukemia, Acute Promyelocytic, Somatic:
Orphanet epidemiological data:53
acute promyelocytic leukemia:
Prevalence: 1-9/1000000 (United States),1-9/1000000 (Europe),1-9/1000000 (France); Age of onset: Adult; Age of death: elderly
leukemia, acute promyelocytic, somatic:
Inheritance: somatic mutation
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Blood diseases, Immune diseases
ICD10: 30 29
Malignant neoplasms, stated or presumed to be primary, of lymphoid, haematopoietic and related tissue
Rare haematological diseases
NIH Rare Diseases:47 Acute promyelocytic leukemia (APL) is an aggressive type of acute myeloid leukemia in which there are too many immature blood-forming cells (promyelocytes) in the blood and bone marrow. This build up of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body. The signs and symptoms of APL include an increased risk to both bleed and form blood clots. Individuals may also experience excessive tiredness, pain in affected areas, loss of appetite, and weight loss. APL usually occurs in middle-aged adults, but can be diagnosed at any age. It is caused by a mutation that is acquired over a person's lifetime, usually involving a translocation between chromosomes 15 and 17. Treatment may include the use of all-trans retinoic acid (ATRA) and arsenic trioxide or anthracycline-based chemotherapy. Last updated: 1/18/2017
MalaCards based summary: Leukemia, Acute Promyelocytic, Somatic, also known as acute promyelocytic leukemia, is related to antiphospholipid syndrome and acute promyelocytic leukemia numa/rara type, and has symptoms including acute promyelocytic leukemia and abnormality of cells of the granulocytic lineage. An important gene associated with Leukemia, Acute Promyelocytic, Somatic is STAT5B (Signal Transducer And Activator Of Transcription 5B), and among its related pathways are Proteolysis Putative SUMO-1 pathway and Androgen receptor signaling pathway. The drugs arsenic trioxide and tretinoin pwdr have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related mouse phenotypes are neoplasm and immune system.
Disease Ontology:11 An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.
Genetics Home Reference:25 Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition.
OMIM:51 The PML tumor suppressor protein is essential for the formation of a dynamic macromolecular nuclear structure called... (102578) more...
Description from OMIM:51 612376
FDA approved drugs:
Drugs for Leukemia, Acute Promyelocytic, Somatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 202)
Interventional clinical trials:(show top 50) (show all 158)
Search NIH Clinical Center for Leukemia, Acute Promyelocytic, Somatic
Inferred drug relations via UMLS67/NDF-RT45:
MalaCards organs/tissues related to Leukemia, Acute Promyelocytic, Somatic:35
Myeloid, Bone, Bone marrow, Lung, Testes, Liver, Prostate
MGI Mouse Phenotypes related to Leukemia, Acute Promyelocytic, Somatic:40
Copy number variations for Leukemia, Acute Promyelocytic, Somatic from CNVD:6 (show all 28)
Search GEO for disease gene expression data for Leukemia, Acute Promyelocytic, Somatic.
Pathways related to Leukemia, Acute Promyelocytic, Somatic according to GeneCards Suite gene sharing:
Cellular components related to Leukemia, Acute Promyelocytic, Somatic according to GeneCards Suite gene sharing:
Biological processes related to Leukemia, Acute Promyelocytic, Somatic according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Leukemia, Acute Promyelocytic, Somatic according to GeneCards Suite gene sharing:(show all 7)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet