MCID: LKM067
MIFTS: 47

Leukemia, Acute Promyelocytic, Somatic

Categories: Genetic diseases, Rare diseases, Cancer diseases, Blood diseases, Immune diseases

Aliases & Classifications for Leukemia, Acute Promyelocytic, Somatic

MalaCards integrated aliases for Leukemia, Acute Promyelocytic, Somatic:

Name: Leukemia, Acute Promyelocytic, Somatic 54 54
Acute Promyelocytic Leukemia 12 50 24 25 56 29 14 69
Leukemia, Acute Promyelocytic 54 25 13
Aml M3 50 25 56
Acute Myeloid Leukemia with T(15;17)(q22;q12);(pml/raralpha) and Variants 50 56
Aml with T(15;17)(q22;q12);(pml/raralpha) and Variants 50 56
Acute Myeloblastic Leukemia Type 3 12 50
Acute Myeloblastic Leukemia 3 50 56
Apml 50 56
Apl 12 25
Leukemia, Promyelocytic, Acute 42
Leukemia Promyelocytic Acute 52
Myeloid Leukemia, Acute, M3 25
Acute Myeloid Leukemia M3 12
M3 Anll 25

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
leukemia, acute promyelocytic, somatic:
Inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:0060318
ICD10 33 C92.4 C92.40
MeSH 42 D015473
NCIt 47 C3182
SNOMED-CT 64 110004001 28950004
Orphanet 56 ORPHA520
MESH via Orphanet 43 D015473
UMLS via Orphanet 70 C0023487
ICD10 via Orphanet 34 C92.4
UMLS 69 C0023487

Summaries for Leukemia, Acute Promyelocytic, Somatic

NIH Rare Diseases : 50 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/superpathways are Pathways in cancer and Endometrial cancer. The drug Trisenox has been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

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 : 54
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 gene with the PML gene (102578) and represents more than 98% of APL (Vitoux et al., 2007). (612376)

Disease Ontology : 12 An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.

Related Diseases for Leukemia, Acute Promyelocytic, Somatic

Diseases related to Leukemia, Acute Promyelocytic, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
id Related Disease Score Top Affiliating Genes
1 antiphospholipid syndrome 11.2
2 acute promyelocytic leukemia numa/rara type 11.1
3 acute promyelocytic leukemia pml/rara type 11.1
4 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) 11.1 FLT3 NPM1
5 atrichia with papular lesions 11.0
6 acute myeloid leukemia with recurrent genetic anomaly 11.0 FLT3 NPM1
7 lipodystrophy, partial, acquired 11.0
8 solar retinopathy 10.9 CYP26A1 RARA RARS
9 cholesteatoma 10.9 ANPEP FLT3 NPM1
10 hodgkin's lymphoma, lymphocytic-histiocytic predominance 10.9 ANPEP CASP3 NPM1
11 caudal regression syndrome 10.8 CYP26A1 RARA
12 peroxisome biogenesis disorder 7a 10.8 CASP3 CD33 FLT3 STAT5B
13 central nervous system mature teratoma 10.8 ANPEP CD33 FLT3 NPM1 RARA
14 nelson syndrome 10.8 ANPEP FLT3 STAT5B
15 cheek mucosa cancer 10.8 CD33 FLT3 NPM1 RARA
16 liver cirrhosis 10.8 FLT3 NPM1 PML RARA ZBTB16
17 essential pentosuria 10.7 FLT3 NPM1
18 leukemia, acute myeloid 10.6 ANPEP CD33 FLT3 NPM1
19 acute pre-b-cell lymphoblastic leukemia 10.6 FLT3 NPM1
20 acute lymphoblastic leukemia, childhood 10.6 ANPEP CD33 FLT3
21 leukemia 10.4
22 malignant teratoma 10.4 ANPEP CD33
23 cranioectodermal dysplasia 1 10.3 ANPEP CASP3 CD33 FLT3 NCOR1 NCOR2
24 spinocerebellar ataxia, autosomal recessive 21 9.8 ANPEP CASP3 CD33 CYP26A1 FIP1L1 FLT3
25 aleukemic leukemia cutis 9.7
26 myeloid leukemia 9.7

Graphical network of the top 20 diseases related to Leukemia, Acute Promyelocytic, Somatic:



Diseases related to Leukemia, Acute Promyelocytic, Somatic

Symptoms & Phenotypes for Leukemia, Acute Promyelocytic, Somatic

Clinical features from OMIM:

612376 102578

Human phenotypes related to Leukemia, Acute Promyelocytic, Somatic:

32
id Description HPO Frequency HPO Source Accession
1 acute promyelocytic leukemia 32 HP:0004836
2 abnormality of cells of the granulocytic lineage 32 HP:0012135

GenomeRNAi Phenotypes related to Leukemia, Acute Promyelocytic, Somatic according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.87 STAT5B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.87 FLT3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 NCOR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.87 FLT3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.87 NCOR1 NUMA1 STAT5B FLT3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.87 FLT3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.87 FLT3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.87 STAT5B FLT3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.87 STAT5B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.87 NCOR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.87 NCOR1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.87 NUMA1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.87 FLT3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.87 NUMA1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.87 STAT5B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.87 NUMA1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.87 STAT5B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.87 NUMA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.87 NCOR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.87 FLT3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.87 STAT5B
22 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.87 NCOR1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.87 NUMA1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.87 STAT5B
25 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.87 NCOR1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.87 NUMA1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.87 STAT5B
28 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.87 FLT3
29 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.87 NUMA1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.87 NCOR1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.87 NUMA1

MGI Mouse Phenotypes related to Leukemia, Acute Promyelocytic, Somatic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 CASP3 CYP26A1 FLT3 NCOR1 NCOR2 NPM1
2 hematopoietic system MP:0005397 10 ANPEP CASP3 FLT3 NCOR1 NCOR2 NPM1
3 immune system MP:0005387 9.9 ANPEP CASP3 FLT3 NCOR1 NCOR2 NPM1
4 liver/biliary system MP:0005370 9.5 NCOR1 NCOR2 NPM1 PRKAR1A RARA STAT5B
5 neoplasm MP:0002006 9.1 FLT3 NPM1 PML PRKAR1A RARA ZBTB16

Drugs & Therapeutics for Leukemia, Acute Promyelocytic, Somatic

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Trisenox 17 46 ARSENIC TRIOXIDE Cell Therapeutics September 2000

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Matched Targeted Therapy For High-Risk Leukemias Recruiting NCT02670525

Search NIH Clinical Center for Leukemia, Acute Promyelocytic, Somatic

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: leukemia, promyelocytic, acute

Genetic Tests for Leukemia, Acute Promyelocytic, Somatic

Genetic tests related to Leukemia, Acute Promyelocytic, Somatic:

id Genetic test Affiliating Genes
1 Acute Promyelocytic Leukemia 29 24 RARA

Anatomical Context for Leukemia, Acute Promyelocytic, Somatic

MalaCards organs/tissues related to Leukemia, Acute Promyelocytic, Somatic:

39
Myeloid, Bone, Bone Marrow

Publications for Leukemia, Acute Promyelocytic, Somatic

Variations for Leukemia, Acute Promyelocytic, Somatic

Copy number variations for Leukemia, Acute Promyelocytic, Somatic from CNVD:

7 (show all 28)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 17351 1 142487224 245120412 Gain Acute promyelocytic leukemia
2 29128 1 227843862 227867765 Deletion EGLN1 Acute promyelocytic leukemia
3 44777 10 62496958 68046104 Deletion Acute promyelocytic leukemia
4 71119 12 6755671 29248257 Deletion Acute promyelocytic leukemia
5 78273 13 49630676 50510777 Deletion DLEU7 Acute promyelocytic leukemia
6 78274 13 49630676 50510777 Deletion FAM10A4 Acute promyelocytic leukemia
7 78275 13 49630676 50510777 Deletion GUCY1B2 Acute promyelocytic leukemia
8 78767 13 56784440 114051465 Duplication Acute promyelocytic leukemia
9 93669 15 57244668 100182183 Duplication Acute promyelocytic leukemia
10 94970 15 72224840 100192115 Duplication Acute promyelocytic leukemia
11 108134 17 18901 21459693 Deletion Acute promyelocytic leukemia
12 108602 17 21491135 35542587 Duplication Acute promyelocytic leukemia
13 123386 18 7192739 7657575 Duplication PTPRM Acute promyelocytic leukemia
14 157044 21 1 48129895 Tri Acute promyelocytic leukemia
15 158722 21 36234195 46924583 Duplication Acute promyelocytic leukemia
16 181722 4 125190507 126521903 Deletion Acute promyelocytic leukemia
17 214094 6 5545437 8054930 Deletion Acute promyelocytic leukemia
18 220370 7 137795618 137920872 Translate TIF1 Acute promyelocytic leukemia
19 226739 7 61522282 158554645 Deletion Acute promyelocytic leukemia
20 228938 7 85414972 86445002 Deletion DMTF1 Acute promyelocytic leukemia
21 228939 7 85414972 86445002 Deletion GRM3 Acute promyelocytic leukemia
22 228940 7 85414972 86445002 Deletion KIAA1324L Acute promyelocytic leukemia
23 230737 8 1 146364022 Tri Acute promyelocytic leukemia
24 233093 8 122607785 132092760 Duplication Acute promyelocytic leukemia
25 254363 9 64207745 111479523 Deletion Acute promyelocytic leukemia
26 256567 9 94435025 94710006 Duplication C9orf3 Acute promyelocytic leukemia
27 256568 9 94435025 94710006 Duplication FBP1 Acute promyelocytic leukemia
28 256569 9 94435025 94710006 Duplication FBP2 Acute promyelocytic leukemia

Expression for Leukemia, Acute Promyelocytic, Somatic

Search GEO for disease gene expression data for Leukemia, Acute Promyelocytic, Somatic.

Pathways for Leukemia, Acute Promyelocytic, Somatic

GO Terms for Leukemia, Acute Promyelocytic, Somatic

Cellular components related to Leukemia, Acute Promyelocytic, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.89 ANPEP CASP3 CD33 FIP1L1 FLT3 NABP1
2 protein complex GO:0043234 9.78 FLT3 NPM1 NUMA1 PRKAR1A
3 nuclear matrix GO:0016363 9.63 NCOR2 NUMA1 PML
4 PML body GO:0016605 9.61 PML SP100 ZBTB16
5 spindle microtubule GO:0005876 9.5 NCOR1 NUMA1 TBL1XR1
6 nucleoplasm GO:0005654 9.47 CASP3 FIP1L1 NABP1 NCOR1 NCOR2 NPM1
7 transcriptional repressor complex GO:0017053 9.46 NCOR1 NCOR2 TBL1XR1 ZBTB16
8 histone deacetylase complex GO:0000118 9.43 NCOR1 NCOR2 TBL1XR1
9 spindle pole centrosome GO:0031616 9.4 NPM1 NUMA1
10 cytosol GO:0005829 10.18 CASP3 FLT3 NABP1 NCOR1 NPM1 NUMA1

Biological processes related to Leukemia, Acute Promyelocytic, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.83 NPM1 RARA SP100 TBL1XR1 ZBTB16
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.73 NCOR1 NCOR2 RARA SP100 TBL1XR1 ZBTB16
3 negative regulation of cell proliferation GO:0008285 9.55 CD33 NPM1 PML RARA ZBTB16
4 regulation of lipid metabolic process GO:0019216 9.54 NCOR1 NCOR2 TBL1XR1
5 retinoic acid receptor signaling pathway GO:0048384 9.4 PML RARA
6 negative regulation of activated T cell proliferation GO:0046007 9.32 CASP3 PRKAR1A
7 negative regulation of production of miRNAs involved in gene silencing by miRNA GO:1903799 8.96 NCOR1 NCOR2
8 response to estradiol GO:0032355 8.92 CASP3 NCOR2 RARA STAT5B

Molecular functions related to Leukemia, Acute Promyelocytic, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 histone deacetylase binding GO:0042826 9.63 NCOR1 NCOR2 RARA
2 protein complex binding GO:0032403 9.58 CASP3 FLT3 NCOR2
3 ligand-dependent nuclear receptor binding GO:0016922 9.48 NCOR1 NCOR2
4 protein N-terminus binding GO:0047485 9.43 NCOR2 TBL1XR1
5 transcription corepressor activity GO:0003714 9.35 NCOR1 NCOR2 RARA SP100 TBL1XR1
6 protein domain specific binding GO:0019904 9.33 RARA SP100 ZBTB16
7 RNA polymerase II regulatory region DNA binding GO:0001012 9.32 NCOR2 RARA
8 glucocorticoid receptor binding GO:0035259 8.8 FLT3 NCOR2 STAT5B
9 protein binding GO:0005515 10.21 CASP3 CD33 FIP1L1 FLT3 NABP1 NCOR1
10 DNA binding GO:0003677 10.02 NABP1 NCOR1 NCOR2 PML RARA SP100

Sources for Leukemia, Acute Promyelocytic, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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