AMKL
MCID: MGK001
MIFTS: 57

Megakaryocytic Leukemia (AMKL) malady

Blood diseases, Cancer diseases categories

Summaries for Megakaryocytic Leukemia

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8Disease Ontology, 32MalaCards
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Disease Ontology:8 A leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers.

MalaCards: Megakaryocytic Leukemia, also known as acute megakaryoblastic leukemia, is related to leukemia and acute leukemia. An important gene associated with Megakaryocytic Leukemia is MKL1 (megakaryoblastic leukemia (translocation) 1), and among its related pathways are C-MYB transcription factor network and Platelet activation, signaling and aggregation. The compounds Sargramostim and ara-ctp have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related mouse phenotypes are integument and endocrine/exocrine gland.

Aliases & Classifications for Megakaryocytic Leukemia

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Sources:
8Disease Ontology, 10DISEASES, 30LifeMap Discovery™, 42NIH Rare Diseases, 48Orphanet, 60UMLS, 9diseasecard, 46OMIM, 44Novoseek, 56SNOMED-CT, 34MeSH, 39NCIt, 27ICD9CM, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
acute megakaryoblastic leukemia:
Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

megakaryocytic leukemia 8 10 30
acute megakaryoblastic leukemia 8 42 48
megakaryoblastic leukemia, acute 9 46
acute megakaryocytic leukemias 8 60
megakaryocytic leukemia without mention of remission 8
acute megakaryoblastic leukemia, morphology 8
acute megakaryoblastic leukaemia, fab m7 8
acute megakaryoblastic leukemia, fab m7 8
acute myeloblastic leukemia type 7 48
megakaryoblastic leukemia acute 44
megakaryocytic myelosis 8
thrombocytic leukaemia 8
amkl 48


External Ids:

Disease Ontology8 DOID:8761
MeSH34 D007947
NCIt39 C3170
ICD9CM27 207.2
ICD10 via Orphanet26 C94.2

Related Diseases for Megakaryocytic Leukemia

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Megakaryocytic Leukemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia31.6IL3RA, CSF1R, GATA1, ITGA2B, MKL1, CBS
2acute leukemia31.4IL3RA, IL3, GATA1, CSF1R
3down syndrome30.7ETS2, CBS, GATA1
4myelofibrosis30.6GATA1, IL3
5myeloid leukemia30.3CSF1R, GATA1, IL3, IL3RA
6childhood leukemia10.5
7acute myeloblastic leukemia type 710.5
8adult syndrome10.3
9acute megakaryoblastic leukemia without down syndrome10.3
10acute megakaryoblastic leukemia in down syndrome10.3
11acute monocytic leukemia10.2
12hypercalcemia10.2
13monocytic leukemia10.2
14bone fracture10.2
15klinefelter's syndrome10.2
16xeroderma pigmentosum10.2
17gingival hypertrophy10.2
18gingivitis10.2
19lymphoid leukemia10.1
20acute myeloid leukemia10.1
21diabetes insipidus10.1
22neonatal leukemia10.1
23beckwith-wiedemann syndrome10.1
24chronic myeloid leukemia10.1
25hepatitis a10.1
26hepatitis10.1
27malignant teratoma10.1
28mediastinitis10.1
29osteosclerosis10.1
30periostitis10.1
31pneumonia10.1
32sarcoma10.1
33vasculitis10.1
34asthma10.0IL3
35prostate cancer10.0ETS2
36herpes simplex10.0GATA1
37leukemoid reaction10.0GATA1, IL3
38antiphospholipid syndrome10.0PF4
39intermediate coronary syndrome10.0ITGA2B
40hemorrhagic thrombocythemia10.0GATA1, PF4, IL3
41deficiency anemia10.0CSF1R, GATA1, IL3
42myelodysplastic syndromes10.0CSF1R, GATA1, IL3
43myeloproliferative disorder10.0IL3, PF4, GATA1
44arthritis10.0CSF1R
45ovarian cancer10.0IL3, ETS2, CSF1R
46thrombocytopenia10.0IL3, PF4, ITGA2B, GATA1
47acute erythroid leukemia10.0GATA1, ITGA2B, PF4, IL3
48acute lymphocytic leukemia10.0CSF1R, GATA1, IL3, IL3RA
49adenoma10.0IL11RA, ETS2
50glanzmann's thrombasthenia10.0PF4, ITGA2B

Graphical network of the top 20 diseases related to Megakaryocytic Leukemia:



Diseases related to megakaryocytic leukemia

Clinical Features for Megakaryocytic Leukemia

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Drugs & Therapeutics for Megakaryocytic Leukemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Megakaryocytic Leukemia

Drug clinical trials:

Search ClinicalTrials for Megakaryocytic Leukemia

Search NIH Clinical Center for Megakaryocytic Leukemia

Search CenterWatch for Megakaryocytic Leukemia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Megakaryocytic Leukemia cell therapies at LifeMap Discovery.

Genetic Tests for Megakaryocytic Leukemia

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Anatomical Context for Megakaryocytic Leukemia

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Sources:
32MalaCards
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MalaCards organs/tissues related to Megakaryocytic Leukemia:

32
Bone, Bone marrow, Myeloid, Monocytes, Liver

Animal Models for Megakaryocytic Leukemia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Megakaryocytic Leukemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.8SPEN, GFI1B, ETS2, CBS, MKL1, GATA1
2MP:00053799.6CSF1R, MKL1, CBS, ETS2, IL3
3MP:00053859.6GATA1, PIK3CD, ITGA2B, MKL1, CBS, ETS2
4MP:00053879.3CSF1R, CSF2RB, GATA1, BST2, PIK3CD, RBM15
5MP:00053769.3PIK3CD, GATA1, CSF2RB, CSF1R, TUBB1, ITGA2B
6MP:00107689.2CSF1R, GATA1, RBM15, NFYA, MKL1, CBS
7MP:00053979.2SPEN, TUBB1, CSF1R, CSF2RB, GATA1, BST2
8MP:00053849.2RBM15, PIK3CD, BST2, GATA1, CSF2RB, CSF1R

Publications for Megakaryocytic Leukemia

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Sources:
50PubMed
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Articles related to Megakaryocytic Leukemia:

(show top 50)    (show all 140)
idTitleAuthorsYear
1
Identification of TRIB1 R107L gain-of-function mutation in human acute megakaryocytic leukemia. (22294728)
2012
2
Hematopoietic overexpression of the transcription factor Erg induces lymphoid and erythro-megakaryocytic leukemia. (22936051)
2012
3
A unique role of GATA1s in Down syndrome acute megakaryocytic leukemia biology and therapy. (22110660)
2011
4
Congenital acute megakaryocytic leukemia. (22557786)
2011
5
Acute megakaryocytic leukemia (AMKL,FAB;M7) with Beckwith-Wiedemann syndrome. (20589645)
2010
6
The leukemia associated ETO nuclear repressor gene is regulated by the GATA-1 transcription factor in erythroid/megakaryocytic cells. (20487545)
2010
7
The serum response factor (SRF)/megakaryocytic acute leukemia (MAL) network participates in megakaryocyte development. (20428204)
2010
8
Differential diagnosis between chronic granulocytic leukemia, polycythaemia vera and essential thrombocythemia using micro-and ultrastructural measurement data performed at the level of megakaryocyte. (19942953)
2009
9
Involvement of nPKC-MAPK pathway in the decrease of nucleophosmin/B23 during megakaryocytic differentiation of human myelogenous leukemia K562 cells. (17448503)
2007
10
Adult acute megakaryocytic leukemia: an analysis of 37 patients treated at M.D. Anderson Cancer Center. (16123215)
2006
11
GATA1, cytidine deaminase, and the high cure rate of Down syndrome children with acute megakaryocytic leukemia. (15687366)
2005
12
Severe megakaryocytic dysplasia in a case of myelodysplasia progressing to acute megakaryocytic leukemia presenting with dic(1;16)(q21;p13.3) and t(1;22)(p13;q13). (14553955)
2003
13
Acute megakaryocytic leukemia presenting as hypercalcemia with skeletal lytic lesions. (12225399)
2002
14
Acute megakaryocytic leukemia in essential thrombocythemia: an unusual evolution? (12366715)
2002
15
Criteria for diagnosis of acute megakaryocytic leukemia. (11263442)
2001
16
ASH2L: alternative splicing and downregulation during induced megakaryocytic differentiation of multipotential leukemia cell lines. (11466562)
2001
17
Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia. (11344311)
2001
18
A functional role of mitogen-activated protein kinases, erk1 and erk2, in the differentiation of a human leukemia cell line, UT-7/GM: a possible key factor for cell fate determination toward erythroid and megakaryocytic lineages. (11372759)
2001
19
Simultaneous detection of platelet-associated antigen and platelet peroxidase on buffy coat cells from bone marrow in two patients with pediatric acute megakaryocytic leukemia. (10524465)
1999
20
The clinical and biological significance of megakaryocytic antigen expression in acute myeloid leukemia]. (11498838)
1999
21
Thrombopoietin enhances the production of myeloid cells, but not megakaryocytes, in juvenile chronic myelogenous leukemia. (9596651)
1998
22
A case of acute megakaryocytic leukemia presenting as peripheral acute leukemia with complex karyotypic abnormalities. (9689936)
1998
23
Megakaryocyte growth and development factor (MGDF)-induced acute leukemia cell proliferation and clonal growth is associated with functional c-mpl. (9096694)
1997
24
The biologic properties of recombinant human thrombopoietin in the proliferation and megakaryocytic differentiation of acute myeloblastic leukemia cells. (8874206)
1996
25
Association between Lyn protein tyrosine kinase (p53/56lyn) and the beta subunit of the granulocyte-macrophage colony-stimulating factor (GM-CSF) receptors in a GM-CSF-dependent human megakaryocytic leukemia cell line (M-07e). (7636265)
1995
26
The expression pattern of erythrocyte/megakaryocyte-related transcription factors GATA-1 and the stem cell leukemia gene correlates with hematopoietic differentiation and is associated with outcome of acute myeloid leukemia. (7579412)
1995
27
Phenotypic characteristics of acute megakaryocytic leukemia and transient abnormal myelopoiesis. (8069184)
1994
28
A case of acute megakaryocytic leukemia with hematogones. (8231260)
1993
29
Dual-color flow cytometric analysis of megakaryocytic DNA ploidy in the investigation of blastic phase chronic myelogenous leukemia with rearrangement of 3q26. (8508354)
1993
30
Modulation of GM-CSF receptor beta-subunit and interleukin-6 receptor mRNA expression in a human megakaryocytic leukemia cell line. (1290964)
1992
31
Megakaryocytic leukemia and platelet factor 4. (1337850)
1992
32
Expression of CD56/NCAM on hematopoietic malignant cells. A useful marker for acute monocytic and megakaryocytic leukemias. (1721853)
1991
33
Cytosine arabinoside chemotherapy for acute megakaryocytic leukemia in a cat. (1917643)
1991
34
Expression of H-related antigen on human megakaryocytes and megakaryocytic leukemia cells. (1747448)
1991
35
Cytosolic calcium mobilization and thromboxane synthesis in a human megakaryocytic leukemia cell. (2108872)
1990
36
Postmortem diagnosis of acute megakaryocytic leukemia. Usefulness of immunohistochemistry and tissue hemogram. (2260477)
1990
37
Synchronous Hodgkin's disease and myelofibrosis terminating with granulocytic sarcoma and acute megakaryocytic leukemia. (2237564)
1990
38
Acute megakaryocytic leukemia. (2593724)
1989
39
Evidence for clonal development and stem cell origin of M7 megakaryocytic leukemia. (3374169)
1988
40
Acute megakaryocytic leukemia with myeloid/monocytic differentiation. (3674284)
1987
41
Megakaryocytic leukemia--its basic and clinical aspects. Proceedings of the Study Group on Megakaryocytic Leukemia and Its Related Diseases. August 26, 1986. (3613389)
1987
42
Acute myelofibrosis. Immunohistochemical study of four cases and comparison with acute megakaryocytic leukemia. (3314470)
1987
43
Establishment in long term culture of megakaryocytic leukemia cells (EST-IU) from the marrow of a patient with leukemia and a mediastinal germ cell neoplasm. (3004722)
1986
44
Treatment of acute megakaryocytic leukemia. (3946965)
1986
45
Megakaryoblastic leukemia in an infant. Establishment of a megakaryocytic tumor cell line in athymic nude mice. (3719517)
1986
46
Megakaryocytic leukemia in a dog. (567874)
1978
47
Acute aleukemic megakaryocytic leukemia: report of a case. (5100208)
1971
48
A case of thrombocythemia; megakaryocytic leukemia]. (13477900)
1957
49
Three cases of megakaryocytic leukemia. (14789510)
1950
50
Acute megakaryocytic leukemia. (18899024)
1948

Genetic Variations for Megakaryocytic Leukemia

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Expression for genes affiliated with Megakaryocytic Leukemia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Megakaryocytic Leukemia

Search GEO for disease gene expression data for Megakaryocytic Leukemia.

Pathways for genes affiliated with Megakaryocytic Leukemia

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Sources:
37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 29KEGG, 12EMD Millipore
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Pathways related to Megakaryocytic Leukemia according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1ETS2, GATA1, CSF1R
2
Hide members
10.1TUBB1, GATA1, ITGA2B, PF4
3
Hide members
10.0CSF2RB, PIK3CD, IL3, IL3RA
4
Hide members
10.0CSF2RB, PIK3CD, IL3, IL3RA
5
Immune response IL-2 activation and signaling pathway
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10.0IL3RA, IL3, PIK3CD, CSF2RB
6
Hide members
10.0IL3RA, IL3, PIK3CD, CSF2RB
7
Hide members
10.0IL3RA, IL3, CSF2RB, CSF1R
8
Hide members
10.0CSF2RB, ETS2, IL3, IL3RA
99.9CSF2RB, GATA1, PIK3CD, IL3, IL3RA
109.9CSF2RB, PIK3CD, IL3, IL11RA, IL3RA
11
Hide members
9.9CSF1R, CSF2RB, ITGA2B, IL11RA, IL3RA
129.9IL3RA, IL11RA, IL3, ITGA2B, CSF1R
139.9CSF1R, PIK3CD, ITGA2B, IL3, IL3RA
14
Hide members
9.8CSF1R, CSF2RB, PF4, IL3, IL11RA, IL3RA
15
Hide members
9.7CSF1R, CSF2RB, ITGA2B, PF4, IL3, IL11RA
16
Hide members
9.7TUBB1, IL3RA, IL11RA, IL3, PF4, CSF2RB
17
Hide members
9.5TUBB1, CSF1R, CSF2RB, ITGA2B, ETS2, PF4

Compounds for genes affiliated with Megakaryocytic Leukemia

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Sources:
11DrugBank, 44Novoseek, 24HMDB, 49PharmGKB
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Compounds related to Megakaryocytic Leukemia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1Sargramostim1110.5IL3RA, CSF2RB
2ara-ctp4410.4IL3, CBS
3aclarubicin4410.4IL3, GATA1
4thromboxane44 2411.4PF4, CBS, GATA1
5cytarabine44 49 1112.3CSF1R, GATA1, CBS, IL3
611-dehydrothromboxane b24410.3PF4, CBS
7tirofiban44 1111.2PF4, ITGA2B
8agar4410.2CSF1R, ETS2, PF4, IL3
9hydroxyurea44 49 1112.2GATA1, PF4, IL3
10serine4410.2CSF1R, GATA1, ITGA2B, NFYA, CBS
1112-o-tetradecanoylphorbol 13-acetate4410.1IL3RA, IL3, PF4, ITGA2B, GATA1, CSF1R
12gp 1304410.1IL3RA, IL11RA, IL3
13wortmannin449.7CSF1R, PIK3CD, PF4, IL3

GO Terms for genes affiliated with Megakaryocytic Leukemia

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16Gene Ontology
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Cellular components related to Megakaryocytic Leukemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:0058879.9IL11RA, MAL, ITGA2B, BST2, CSF2RB, CSF1R

Biological processes related to Megakaryocytic Leukemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124010.3PF4, GATA1
2interleukin-3-mediated signaling pathwayGO:03815610.3IL3RA, CSF2RB
3cellular response to interleukin-3GO:03601610.2IL3RA, CSF2RB
4embryonic hemopoiesisGO:03516210.0IL3, GATA1

Molecular functions related to Megakaryocytic Leukemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-3 receptor activityGO:00491210.2IL3RA, CSF2RB
2RNA polymerase II transcription factor bindingGO:0010859.9SPEN, GFI1B, GATA1
3protein bindingGO:0055159.1ITGA2B, RBM15, PIK3CD, BST2, GATA1, NFYA

Products for genes affiliated with Megakaryocytic Leukemia

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  • Antibodies
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Sources for Megakaryocytic 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet