APL
MCID: ACT119
MIFTS: 68

Acute Promyelocytic Leukemia (APL) malady

Rare diseases, Cancer diseases, Blood diseases categories
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Summaries for Acute Promyelocytic Leukemia

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Genetics Home Reference:21 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.

MalaCards based summary: Acute Promyelocytic Leukemia, also known as leukemia, acute promyelocytic, is related to leukemia and acute myeloid leukemia, and has symptoms including An important gene associated with Acute Promyelocytic Leukemia is RARA (retinoic acid receptor, alpha), and among its related pathways are Nuclear receptors in lipid metabolism and toxicity and Adipogenesis. The drugs cyclophosphamide and etoposide and the compounds alpha-retinoic acid and arsenic trioxide have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related mouse phenotypes are tumorigenesis and reproductive system.

NIH Rare Diseases:42 Acute promyelocytic leukemia is an aggressive type of acute myeloid leukemia in which there are too many immature blood-forming cells in the blood and bone marrow. it is usually marked by a translocation of chromosomes 15 and 17. acute promyelocytic leukemia usually occurs in middle-aged adults. symptoms may include both bleeding and forming blood clots. last updated: 6/23/2011

Wikipedia:65 Acute promyelocytic leukemia (APML, APL) is a subtype of acute myelogenous leukemia (AML), a cancer of... more...

Description from OMIM:46 612376

Aliases & Classifications for Acute Promyelocytic Leukemia

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Sources:
62UMLS, 48Orphanet, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Acute Promyelocytic Leukemia, Aliases & Descriptions:

Name: Acute Promyelocytic Leukemia 42 22 21 48 62
Leukemia, Acute Promyelocytic 21 46
Aml M3 21 62
Acute Myeloid Leukemia with T(15;17)(q22;q12);(pml/raralpha) and Variants 48
Acute Myeloblastic Leukemia Type 3 48
 
Leukemia Promyelocytic Acute 44
Myeloid Leukemia, Acute, M3 21
Leukemia, Myelocytic, Acute 62
M3 Anll 21
Apl 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
acute promyelocytic leukemia:
Age of onset: Adulthood; Age of death: Elderly


External Ids:

OMIM46 612376
MESH via Orphanet35 D015473
ICD10 via Orphanet26 C92.4
UMLS via Orphanet63 C0023487
ICD1025 C92.4

Related Diseases for Acute Promyelocytic Leukemia

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Diseases related to Acute Promyelocytic Leukemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 110)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia31.8FES, PML, NUMA1, CYP26A1, ZBTB16, FLT3
2acute myeloid leukemia31.7FLT3, NPM1
3myeloid leukemia31.4FES, FLT3, STAT5B, RARA, NPM1, CD33
4myelodysplastic syndromes31.2FLT3, RARA, NPM1, CD33
5myeloid sarcoma31.1CD33
6chronic myeloid leukemia30.8PML, FES, FLT3, STAT5B, RARA, CD33
7acute leukemia30.7ZBTB16, PML, FLT3, STAT5B, RARA, NPM1
8non-hodgkin lymphoma30.7ZBTB16, PML, FLT3, NPM1
9myelofibrosis30.6FLT3, STAT5B
10breast cancer30.0CYP26A1, NUMA1, PML, FLT3, PRKAR1A, STAT5B
11pseudotumor cerebri10.7
12disseminated intravascular coagulation10.7
13bone marrow necrosis10.6
14acute myeloblastic leukemia type 310.5
15hematopoietic stem cell transplantation10.5
16multiple sclerosis10.5
17endotheliitis10.5
18keratomalacia10.4RARA, CYP26A1
19hepatitis10.4
20hypercalcemia10.4
21langerhans-cell histiocytosis10.4PML, RARA
22aplastic anemia10.3
23hemophagocytic lymphohistiocytosis10.3
24myocardial infarction10.3
25leukostasis10.3
26aspergillosis10.3
27dermatitis10.3
28meningitis10.3
29sarcoma10.3
30ring chromosome 610.3
31leukemia, acute promyelocytic, npm/rara type10.3
32leukemia, acute promyelocytic, numa/rara type10.3
33leukemia, acute promyelocytic, pl2f/rara type10.3
34leukemia, acute promyelocytic, pml/rara type10.3
35leukemia, acute promyelocytic, stat5b/rara type10.3
36juvenile myelomonocytic leukemia10.3RARA, FLT3
37acute myeloid leukemia, adult10.2NPM1, FLT3
38acute lymphoblastic leukemia10.2CD33, STAT5B, FLT3, PML
39adult t-cell leukemia10.2
40arthritis10.2
41cerebral hemorrhage10.2
42cervical cancer10.2
43chronic myelomonocytic leukemia10.2
44focal segmental glomerulosclerosis10.2
45hepatitis b10.2
46hodgkin's lymphoma10.2
47hypertension10.2
48lymphoblastic lymphoma10.2
49obesity10.2
50renal cell carcinoma10.2

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



Diseases related to acute promyelocytic leukemia

Symptoms for Acute Promyelocytic Leukemia

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Clinical features from OMIM:

612376

HPO human phenotypes related to Acute Promyelocytic Leukemia:

id Description Frequency HPO Source Accession
1 somatic mutation HP:0001428
2 acute promyelocytic leukemia HP:0004836
3 abnormality of cells of the granulocytic lineage HP:0012135

Drugs & Therapeutics for Acute Promyelocytic Leukemia

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Drug clinical trials:

Search ClinicalTrials for Acute Promyelocytic Leukemia

Search NIH Clinical Center for Acute Promyelocytic Leukemia

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Acute Promyelocytic Leukemia

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Genetic tests related to Acute Promyelocytic Leukemia:

id Genetic test Affiliating Genes
1 Acute Promyelocytic Leukemia22

Anatomical Context for Acute Promyelocytic Leukemia

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MalaCards organs/tissues related to Acute Promyelocytic Leukemia:

32
Myeloid, Bone, Bone marrow, Monocytes, Liver, Endothelial, Neutrophil, Colon, Thyroid, Heart, Adipocyte, Kidney, Breast, T cells

Animal Models for Acute Promyelocytic Leukemia or affiliated genes

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MGI Mouse Phenotypes related to Acute Promyelocytic Leukemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000200610.0NPM1, ZBTB16, PML, FES, FLT3, PRKAR1A
2MP:000538910.0RARA, STAT5B, PRKAR1A, FES, CYP26A1, ZBTB16
3MP:00028739.9CYP26A1, PML, FES, PRKAR1A, STAT5B, RARA
4MP:00053979.9ZBTB16, PML, FES, FLT3, PRKAR1A, STAT5B
5MP:00053849.8ZBTB16, CYP26A1, NUMA1, PML, FLT3, PRKAR1A
6MP:00053879.8ZBTB16, PML, FES, FLT3, PRKAR1A, STAT5B
7MP:00053709.8FES, STAT5B, RARA, TBL1XR1, NPM1
8MP:00107689.7CYP26A1, NUMA1, PML, FES, FLT3, PRKAR1A
9MP:00053789.7CYP26A1, FES, FLT3, PRKAR1A, STAT5B, RARA

Publications for Acute Promyelocytic Leukemia

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Articles related to Acute Promyelocytic Leukemia:

(show top 50)    (show all 1023)
idTitleAuthorsYear
1
A case of therapy-related acute myeloid leukemia with a normal karyotype after sustained molecular complete remission of acute promyelocytic leukemia. (24422201)
2014
2
Economic evaluation of arsenic trioxide compared to all-trans retinoic acid + conventional chemotherapy for treatment of relapsed acute promyelocytic leukemia in Canada. (25354894)
2014
3
Role of hematopoietic stem cell transplantation for relapsed acute promyelocytic leukemia: a retrospective analysis of JALSG-APL97. (23837667)
2013
4
Hepatotoxicity from arsenic trioxide for pediatric acute promyelocytic leukemia. (23412590)
2013
5
The histone demethylase PHF8 governs retinoic acid response in acute promyelocytic leukemia. (23518351)
2013
6
Rare occurrence of the JAK1 mutation in acute promyelocytic leukemia patients. (23860541)
2013
7
A unique PML-RARI+ rearrangement involving chromosomes 11, 15, and 17 in a patient with acute promyelocytic leukemia. (23660071)
2013
8
Single-Agent Liposomal All-Trans-Retinoic Acid as Initial Therapy for Acute Promyelocytic Leukemia: 13-Year Follow-Up Data. (24128595)
2013
9
Retinoic acid and arsenic trioxide for acute promyelocytic leukemia. (23841729)
2013
10
ZBTB16-RARI+ variant of acute promyelocytic leukemia with tuberculosis: a case report and review of literature. (23071480)
2012
11
Long term curative effects of sequential therapy with all-trans retinoic acid, arsenious oxide and chemotherapy on patients with acute promyelocytic leukemia. (23168069)
2012
12
FLT3 mutation status is a predictor of early death in pediatric acute promyelocytic leukemia: a report from the Children's Oncology Group. (22378655)
2012
13
High incidence of acute promyelocytic leukemia specifically induced by N-nitroso-N-methylurea (NMU) in Sprague-Dawley rats. (21964634)
2012
14
AIDA 0493 protocol for newly diagnosed acute promyelocytic leukemia: very long-term results and role of maintenance. (21385856)
2011
15
A novel PML-ADAMTS17-RARA gene rearrangement in a patient with pregnancy-related acute promyelocytic leukemia. (21529941)
2011
16
Increased incidence of central nervous system hemorrhages in patients with secondary acute promyelocytic leukemia after treatment of multiple sclerosis with mitoxantrone? (21632839)
2011
17
Acute Budd-Chiari syndrome in pediatric acute promyelocytic leukemia. (21649539)
2011
18
Treatment of therapy related acute promyelocytic leukemia with the combination of all trans retinoic acid and arsenic trioxide without chemotherapy: a series of three patients. (20350274)
2010
19
Acute promyelocytic leukemia occurring in a previously healthy bone marrow donor. (20620606)
2010
20
External auditory canal and middle ear relapse of acute promyelocytic leukemia treated with arsenic trioxide: case report and review of the literature. (20186102)
2010
21
A case of ischemic stroke in acute promyelocytic leukemia at initial presentation. Relevance of all-trans retinoic acid treatment. (20041837)
2010
22
Isolated bowel relapse in acute promyelocytic leukemia: an unusual site of extramedullary recurrence. (20713873)
2010
23
FLT3 internal tandem duplication in patients with acute promyelocytic leukemia]. (17939400)
2007
24
Diagnosis and monitoring of PML-RARA-positive acute promyelocytic leukemia by qualitative RT-PCR. (16502581)
2006
25
CD2+ tetraploid acute promyelocytic leukemia variant with double (15;17) translocations. (15717685)
2005
26
Growth suppression by acute promyelocytic leukemia-associated protein PLZF is mediated by repression of c-myc expression. (14645547)
2003
27
New highly sensitive fluorescence in situ hybridization method to detect PML/RARA fusion in acute promyelocytic leukemia. (12935927)
2003
28
The impact of arsenic trioxide or all-trans retinoic acid treatment on coagulopathy in acute promyelocytic leukemia]. (16206674)
2001
29
Effects of all-trans-retinoic acid and arsenic trioxide on the hemostatic disturbance associated with acute promyelocytic leukemia. (11369412)
2001
30
Pseudotumor cerebri induced by all-trans-retinoic acid in a child treated for acute promyelocytic leukemia. (10742073)
2000
31
Annexin II and bleeding in acute promyelocytic leukemia. (10099141)
1999
32
Complete remission of t(11;17) positive acute promyelocytic leukemia induced by all-trans retinoic acid and granulocyte colony-stimulating factor. (10381496)
1999
33
Terminal deletion of the long arm of chromosome 9 in acute promyelocytic leukemia with a cryptic PML/RAR alpha rearrangement. (10484977)
1999
34
The role of von Willebrand factor in the hemostatic defect of acute promyelocytic leukemia. (9922039)
1998
35
A PMLRARalpha transgene initiates murine acute promyelocytic leukemia. (9122233)
1997
36
All-trans retinoic acid-induced myelomonocytoid differentiation in acute promyelocytic leukemia]. (9194390)
1997
37
Variant and masked translocations in acute promyelocytic leukemia. (8819070)
1996
38
The t(5;17) variant of acute promyelocytic leukemia expresses a nucleophosmin-retinoic acid receptor fusion. (8562957)
1996
39
PML, PLZF and NPM genes in the molecular pathogenesis of acute promyelocytic leukemia. (8952164)
1996
40
Acute promyelocytic leukemia with t(15;16;17;19) and unusual fluorescence in situ hybridization pattern with PML and RARA probes. (8956873)
1996
41
Loss of blast cell procoagulant activity and improvement of hemostatic variables in patients with acute promyelocytic leukemia administered all-trans-retinoic acid. (7620161)
1995
42
Retinoic acid and acute promyelocytic leukemia: a model of targetting treatment for human cancer. (7697468)
1994
43
The t(15;17) translocation in acute promyelocytic leukemia. (7934155)
1994
44
Retinoic acid receptors: involvement in acute promyelocytic leukemia. (7920173)
1994
45
Interstitial insertion of retinoic acid receptor-alpha gene in acute promyelocytic leukemia with normal chromosomes 15 and 17. (8180390)
1994
46
A non-classical translocation involving 17q12 (retinoic acid receptor alpha) in acute promyelocytic leukemia (APML) with atypical features. (8057672)
1994
47
Hypercalcemia associated with all-trans-retinoic acid in the treatment of acute promyelocytic leukemia. (8501972)
1993
48
Molecular heterogeneity of the PML gene rearrangement in acute promyelocytic leukemia: prevalence and clinical significance. (8387477)
1993
49
Retinoic acid receptor alpha in acute promyelocytic leukemia. (8391236)
1993
50
Rearrangements of the RARA and PML genes in a cytogenetic variant of acute promyelocytic leukemia. (7680887)
1993

Variations for Acute Promyelocytic Leukemia

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Expression for genes affiliated with Acute Promyelocytic Leukemia

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Expression patterns in normal tissues for genes affiliated with Acute Promyelocytic Leukemia

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

Pathways for genes affiliated with Acute Promyelocytic Leukemia

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Pathways related to Acute Promyelocytic Leukemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3RARA, CYP26A1
210.2RARA, STAT5B, CYP26A1
310.2RARA, STAT5B, FES
410.2FES, FLT3, NPM1
510.2ZBTB16, PML, FLT3, RARA
610.1ZBTB16, PML, FLT3, STAT5B, RARA
7
Show member pathways
Signal transduction PTEN pathway60
10.1RARA, STAT5B, FLT3, PML, ZBTB16

Compounds for genes affiliated with Acute Promyelocytic Leukemia

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Sources:
44Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Acute Promyelocytic Leukemia according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1alpha-retinoic acid4410.7RARA, PML
2arsenic trioxide50 1111.6PML, RARA
3ttab4410.6RARA, CYP26A1
4am 5804410.6RARA, CYP26A1
5retinaldehyde4410.5CYP26A1, RARA
6tretinoin50 1111.5PML, RARA
7acitretin44 1111.5RARA, CYP26A1
8arsenite44 2411.5PML, FLT3, STAT5B, RARA
9imatinib44 50 1112.4FLT3, FIP1L1, STAT5B, RARA
10retinoid4410.4ZBTB16, CYP26A1, PML, RARA, UBA7
11gemtuzumab ozogamicin50 44 1112.4FLT3, CD33
12zinc44 2411.3NPM1, RARA, STAT5B, PML, ZBTB16
13nitroblue tetrazolium4410.3CD33, RARA
14threonine4410.3NUMA1, FES, FLT3, STAT5B, NPM1
15cycloheximide4410.2NPM1, RARA, STAT5B, TNFAIP2
16tyrosine4410.1ZBTB16, FES, FLT3, FIP1L1, STAT5B, RARA
17isotretinoin44 1111.0RARA, CYP26A1
18cysteine4410.0PML, PRKAR1A, RARA, UBA7, NPM1
19calcium44 50 24 1112.9CLEC11A, PRKAR1A, ANXA8L2, ANXA8, RARA, NPM1
20retinoic acid44 2410.6NPM1, ZBTB16, CYP26A1, NUMA1, PML, TNFAIP2

GO Terms for genes affiliated with Acute Promyelocytic Leukemia

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Cellular components related to Acute Promyelocytic Leukemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1spindle microtubuleGO:00587610.3TBL1XR1, NUMA1
2nucleoplasmGO:0056549.7NUMA1, PML, STAT5B, RARA, TBL1XR1, NPM1
3cytosolGO:0058299.6NPM1, ZBTB16, NUMA1, PML, FES, PRKAR1A

Biological processes related to Acute Promyelocytic Leukemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myeloid cell differentiationGO:03009910.3PML, ZBTB16
2retinoic acid receptor signaling pathwayGO:0483849.9RARA, PML, CYP26A1
3negative regulation of cell proliferationGO:0082859.9CD33, ZBTB16, PML, FLT3, RARA, NPM1

Molecular functions related to Acute Promyelocytic Leukemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium-dependent phospholipid bindingGO:00554410.2ANXA8, ANXA8L2
2retinoic acid bindingGO:00197210.0RARA, CYP26A1
3protein bindingGO:0055159.4CD33, ZBTB16, NUMA1, PML, FES, FLT3

Products for genes affiliated with Acute Promyelocytic Leukemia

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Sources for Acute Promyelocytic Leukemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet