Acute promyelocytic leukemia
General Information (adopted from Orphanet):
Synonyms, Signs: |
LEUKEMIA, ACUTE PROMYELOCYTIC APL Acute myeloblastic leukemia type 3 Acute myeloid leukemia with t(15 17)(q22 q12) (PML/RARalpha) and variants |
Number of Symptoms | 3 |
OrphanetNr: | 520 |
OMIM Id: |
612376
|
ICD-10: |
C92.4 |
UMLs: |
C0023487 |
MeSH: |
D015473 |
MedDRA: |
10001019 |
Snomed: |
28950004 |
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
|
Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Acute myeloid leukemia with recurrent genetic anomaly
-Rare hematologic disease -Rare oncologic disease |
Symptom Information:
|
(HPO:0012135) | Abnormality of cells of the granulocytic lineage | 2 / 7739 | ||||
|
(HPO:0004836) | Acute promyelocytic leukemia | 1 / 7739 | ||||
|
(HPO:0001428) | Somatic mutation | 100 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Description: (OMIM) |
Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and reciprocal and balanced translocations that always involve rearrangement of the RARA gene (180240). The most frequent translocation is t(15,17)(q21;q22), which fuses the RARA ... |