MCID: LKM065
MIFTS: 47

Leukemia, Acute Promyelocytic malady

Rare diseases, Cancer diseases, Blood diseases categories

Summaries for Leukemia, Acute Promyelocytic

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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: Leukemia, Acute Promyelocytic, also known as acute promyelocytic leukemia, is related to myeloid leukemia and acute leukemia, and has symptoms including somatic mutation, acute promyelocytic leukemia and abnormality of cells of the granulocytic lineage. An important gene associated with Leukemia, Acute Promyelocytic is NPM1 (nucleophosmin (nucleolar phosphoprotein B23, numatrin)), and among its related pathways are Disease and Transcriptional misregulation in cancer. The drugs tretinoin and arsenic trioxide and the compounds alpha-retinoic acid and arsenic trioxide have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and bone, and related mouse phenotypes are liver/biliary system and tumorigenesis.

Disease Ontology:9 An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.

NIH Rare Diseases:41 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

OMIM:45 Acute promyelocytic leukemia (APL) is associated with 2 cardinal features: a granulocytic differentiation block and... (612376) more...

Aliases & Classifications for Leukemia, Acute Promyelocytic

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Sources:
45OMIM, 10diseasecard, 21Genetics Home Reference, 9Disease Ontology, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 43Novoseek, 22GTR, 27ICD9CM, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Leukemia, Acute Promyelocytic, Aliases & Descriptions:

Name: Leukemia, Acute Promyelocytic 45 10 21
Acute Promyelocytic Leukemia 45 9 41 21 47 60
Acute Myeloblastic Leukemia Type 3 9 41 47
Acute Myeloid Leukemia with T(15;17)(q22;q12);(pml/raralpha) and Variants 41 47
Leukemia Promyelocytic Acute 43 22
 
Apl 9 21
Myeloid Leukemia, Acute, M3 21
Acute Myeloid Leukemia M3 9
M3 Anll 21
Aml M3 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
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


External Ids:

OMIM45 612376
Disease Ontology9 DOID:0060318
ICD9CM27 205.0
NCIt38 C3182
MeSH33 D015473
Orphanet47 520
MESH via Orphanet34 D015473
ICD10 via Orphanet26 C92.4
UMLS via Orphanet61 C0023487
ICD1025 C92.4

Related Diseases for Leukemia, Acute Promyelocytic

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



Diseases related to leukemia, acute promyelocytic

Symptoms for Leukemia, Acute Promyelocytic

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Clinical features from OMIM:

612376

HPO human phenotypes related to Leukemia, Acute Promyelocytic:

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 Leukemia, Acute Promyelocytic

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Drug clinical trials:

Search ClinicalTrials for Leukemia, Acute Promyelocytic

Search NIH Clinical Center for Leukemia, Acute Promyelocytic

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Leukemia, Acute Promyelocytic

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Genetic tests related to Leukemia, Acute Promyelocytic:

id Genetic test Affiliating Genes
1 Acute Promyelocytic Leukemia22

Anatomical Context for Leukemia, Acute Promyelocytic

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MalaCards organs/tissues related to Leukemia, Acute Promyelocytic:

31
Myeloid, Bone marrow, Bone

Animal Models for Leukemia, Acute Promyelocytic or affiliated genes

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MGI Mouse Phenotypes related to Leukemia, Acute Promyelocytic:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8STAT5B, RARA, TBL1XR1, NPM1
2MP:00020068.0NPM1, RARA, STAT5B, PRKAR1A, PML, ZBTB16
3MP:00053977.9ZBTB16, PML, PRKAR1A, STAT5B, RARA, NPM1
4MP:00053877.8ZBTB16, PML, PRKAR1A, STAT5B, RARA, NPM1
5MP:00107687.6NPM1, RARA, STAT5B, PRKAR1A, PML, NUMA1
6MP:00053847.1ZBTB16, NUMA1, PML, PRKAR1A, STAT5B, RARA

Publications for Leukemia, Acute Promyelocytic

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Variations for Leukemia, Acute Promyelocytic

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Expression for genes affiliated with Leukemia, Acute Promyelocytic

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

Pathways for genes affiliated with Leukemia, Acute Promyelocytic

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Pathways related to Leukemia, Acute Promyelocytic according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0NPM1, TBL1XR1, STAT5B, PRKAR1A
29.0RARA, PML, ZBTB16
38.6ZBTB16, PML, STAT5B, RARA
4
Show member pathways
Signal transduction PTEN pathway58
8.6RARA, STAT5B, PML, ZBTB16

Compounds for genes affiliated with Leukemia, Acute Promyelocytic

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank, 24HMDB
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Compounds related to Leukemia, Acute Promyelocytic according to GeneCards Suite gene sharing:

(show all 12)
idCompoundScoreTop Affiliating Genes
1alpha-retinoic acid439.7RARA, PML
2arsenic trioxide49 1210.7RARA, PML
3tretinoin49 1210.6RARA, PML
4imatinib43 49 1211.5RARA, STAT5B, FIP1L1
5arsenite43 2410.3PML, STAT5B, RARA
6actinomycin d439.2NPM1, RARA, PML
7retinoid439.1RARA, PML, ZBTB16
8paclitaxel43 49 1210.9NPM1, RARA, NUMA1
9zinc43 249.5ZBTB16, PML, STAT5B, RARA, NPM1
10tyrosine438.5ZBTB16, FIP1L1, STAT5B, RARA, NPM1
11cysteine438.5PML, PRKAR1A, RARA, NPM1
12retinoic acid43 248.7NPM1, ZBTB16, NUMA1, PML, STAT5B, RARA

GO Terms for genes affiliated with Leukemia, Acute Promyelocytic

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

idNameGO IDScoreTop Affiliating Genes
1transcriptional repressor complexGO:00170539.5ZBTB16, TBL1XR1
2spindle microtubuleGO:00058769.3TBL1XR1, NUMA1
3PML bodyGO:00166059.3PML, ZBTB16
4nucleolusGO:00057307.9NUMA1, PML, NABP1, FIP1L1, NPM1
5nucleoplasmGO:00056547.8NUMA1, PML, STAT5B, RARA, TBL1XR1, NPM1
6cytosolGO:00058297.5ZBTB16, NUMA1, PML, PRKAR1A, STAT5B, NPM1
7cytoplasmGO:00057377.2NPM1, RARA, STAT5B, NABP1, PML, NUMA1
8nucleusGO:00056346.4NPM1, ZBTB16, NUMA1, PML, NABP1, FIP1L1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1response to estradiolGO:00323559.8RARA, STAT5B
2liver developmentGO:00018899.8RARA, STAT5B
3response to ethanolGO:00454719.8RARA, STAT5B
4retinoic acid receptor signaling pathwayGO:00483849.7RARA, PML
5response to cytokineGO:00340979.7RARA, PML
6proteasome-mediated ubiquitin-dependent protein catabolic processGO:00431619.6PML, TBL1XR1
7myeloid cell differentiationGO:00300999.5ZBTB16, PML
8female pregnancyGO:00075659.5RARA, STAT5B
9positive regulation of transcription, DNA-templatedGO:00458939.2ZBTB16, RARA, TBL1XR1
10negative regulation of transcription, DNA-templatedGO:00458929.1RARA, PML, ZBTB16
11negative regulation of cell proliferationGO:00082858.9NPM1, RARA, PML, ZBTB16

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

idNameGO IDScoreTop Affiliating Genes
1histone bindingGO:00423939.9NPM1, TBL1XR1
2transcription coactivator activityGO:00037139.1PML, RARA, NPM1
3protein heterodimerization activityGO:00469828.9NPM1, RARA, PML
4protein bindingGO:00055156.7NPM1, TBL1XR1, RARA, STAT5B, PRKAR1A, PML

Products for genes affiliated with Leukemia, Acute Promyelocytic

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Sources for Leukemia, Acute Promyelocytic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet