AMKL
MCID: MGK001
MIFTS: 57

Megakaryocytic Leukemia (AMKL) malady

Rare diseases, Cancer diseases, Blood diseases categories
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Summaries for Megakaryocytic Leukemia

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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 based summary: Megakaryocytic Leukemia, also known as acute megakaryoblastic leukemia, is related to myelofibrosis and leukemia. An important gene associated with Megakaryocytic Leukemia is MKL1 (megakaryoblastic leukemia (translocation) 1), and among its related pathways are Notch-mediated HES/HEY network and Signaling events mediated by PTP1B. The compounds aclarubicin and bryostatin 1 have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid, and related mouse phenotypes are liver/biliary system and integument.

Aliases & Classifications for Megakaryocytic Leukemia

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 10DISEASES, 62UMLS, 42NIH Rare Diseases, 48Orphanet, 9diseasecard, 46OMIM, 44Novoseek, 57SNOMED-CT, 34MeSH, 27ICD9CM, 39NCIt, 26ICD10 via Orphanet, 25ICD10
See all sources

Megakaryocytic Leukemia, Aliases & Descriptions:

Name: Megakaryocytic Leukemia 30 8 10
Acute Megakaryoblastic Leukemia 8 42 48
Megakaryoblastic Leukemia, Acute 9 46
Acute Megakaryocytic Leukemias 8 62
Acute Megakaryoblastic Leukaemia, Fab M7 8
Acute Megakaryoblastic Leukemia, Fab M7 8
 
Acute Myeloblastic Leukemia Type 7 48
Acute Megakaryoblastic Leukaemia 62
Megakaryoblastic Leukemia Acute 44
Megakaryocytic Myelosis 8
Thrombocytic Leukaemia 8
Amkl 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:8761
MeSH34 D007947
ICD9CM27 207.2
NCIt39 C3170
ICD10 via Orphanet26 C94.2
ICD1025 C94.2

Related Diseases for Megakaryocytic Leukemia

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

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1myelofibrosis31.1GATA1
2leukemia30.7MKL1, CBS, ITGA2B, IL3, IL11RA, CSF1R
3acute erythroid leukemia30.4GATA1, IL3, ITGA2B
4acute leukemia30.4IL3, CSF1R, GATA1
5myelodysplastic syndromes30.3GATA1, CSF1R, IL3
6myeloid leukemia30.2GATA1, CSF1R, IL3
7down syndrome10.6
8acute megakaryoblastic leukemia in down syndrome10.5
9acute myeloblastic leukemia type 710.5
10gray platelet syndrome10.5GATA1
11acute panmyelosis with myelofibrosis10.4
12acute megakaryoblastic leukemia without down syndrome10.4
13refractory anemia10.4
14leukemoid reaction10.3GATA1, IL3
15hematopoietic stem cell transplantation10.3
16hepatitis10.3
17hypercalcemia10.3
18sarcoma10.3
19hypoxia10.3
20acute myeloid leukemia10.2
21bone fracture10.2
22klinefelter's syndrome10.2
23gingival hypertrophy10.2
24xeroderma pigmentosum10.2
25gingivitis10.2
26tetrasomy 2110.2
27hemorrhagic thrombocythemia10.2GATA1, IL3
28pulmonary alveolar proteinosis10.2CSF2RB, IL3
29bone marrow cancer10.2GATA1, IL3
30beckwith-wiedemann syndrome10.1
31hypertension10.1
32pulmonary hypertension10.1
33diabetes insipidus10.1
34myeloid sarcoma10.1
35cerebritis10.1
36malignant teratoma10.1
37mediastinitis10.1
38osteosclerosis10.1
39periostitis10.1
40pneumonia10.1
41vasculitis10.1
42essential thrombocythemia10.1
43teratoma10.1
44acquired central diabetes insipidus10.1
45thrombocytopenia10.1ITGA2B, IL3, GATA1
46aplastic anemia10.0IL3, GATA1
47deficiency anemia9.9IL3, CSF1R, GATA1
48acute lymphoblastic leukemia9.9IL3, CSF1R, GATA1

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



Diseases related to megakaryocytic leukemia

Symptoms for Megakaryocytic Leukemia

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Drugs & Therapeutics for Megakaryocytic Leukemia

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Drug clinical trials:

Search ClinicalTrials for Megakaryocytic Leukemia

Search NIH Clinical Center 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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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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MGI Mouse Phenotypes related to Megakaryocytic Leukemia:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6TRIB1, GATA1, CBS, SPEN
2MP:00107718.0SPEN, MKL1, GFI1B, CBS, CSF1R, GATA1
3MP:00053797.9SPEN, MKL1, CBS, IL3, CSF1R
4MP:00053807.8GFI1B, CBS, ITGA2B, IL11RA, GATA1
5MP:00053857.7SPEN, MKL1, GFI1B, CBS, ITGA2B, IL11RA
6MP:00053787.5SPEN, MKL1, CBS, IL11RA, CSF1R, GATA1
7MP:00053846.9MKL1, GFI1B, CBS, ITGA2B, IL3, CSF1R
8MP:00107686.8SPEN, MKL1, GFI1B, CBS, IL3, IL11RA
9MP:00053766.4MKL1, GFI1B, CBS, ITGA2B, IL3, CSF2RB
10MP:00053975.7TRIB1, SPEN, GFI1B, CBS, ITGA2B, IL3
11MP:00053875.7ITGA2B, CBS, GFI1B, SPEN, IL3, IL11RA

Publications for Megakaryocytic Leukemia

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Articles related to Megakaryocytic Leukemia:

(show top 50)    (show all 110)
idTitleAuthorsYear
1
Extramedullary Tumor of Cerebral Falx: An Unusual Presentation of Acute Megakaryocytic Leukemia. (24663070)
2014
2
Case study interpretation-New Orleans: case 1. Extramedullary acute megakaryocytic leukemia. (23283835)
2013
3
Overexpression of GATA1 confers resistance to chemotherapy in acute megakaryocytic Leukemia. (23874683)
2013
4
Identification of TRIB1 R107L gain-of-function mutation in human acute megakaryocytic leukemia. (22294728)
2012
5
A unique role of GATA1s in Down syndrome acute megakaryocytic leukemia biology and therapy. (22110660)
2011
6
A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21. (20108342)
2010
7
Hypercalcemia in pediatric acute megakaryocytic leukemia: case report and review of the literature. (19415024)
2009
8
The role of the proto-oncogene ETS2 in acute megakaryocytic leukemia biology and therapy. (18094719)
2008
9
Distinct clones are associated with the development of transient myeloproliferative disorder and acute megakaryocytic leukemia in a patient with Down syndrome. (17988992)
2007
10
Massive periosteal reaction a presenting feature of acute megakaryocytic leukemia. (18045316)
2007
11
JAK2 mutation 1849G&gt;T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. (16037387)
2005
12
Inhibition by Rho-kinase and protein kinase C of myosin phosphatase is involved in thrombin-induced shape change of megakaryocytic leukemia cell line UT-7/TPO. (15567063)
2005
13
Prenatal origin of GATA1 mutations may be an initiating step in the development of megakaryocytic leukemia in Down syndrome. (15317736)
2004
14
Interleukin-11 as an osteoprotegerin-inducing factor in culture medium of blastic cells from a patient with acute megakaryocytic leukemia complicated with osteosclerosis. (15307108)
2004
15
Transcriptional regulation of the cystathionine-beta -synthase gene in Down syndrome and non-Down syndrome megakaryocytic leukemia cell lines. (12393509)
2003
16
Acute megakaryocytic leukemia presenting as hypercalcemia with skeletal lytic lesions. (12225399)
2002
17
Criteria for diagnosis of acute megakaryocytic leukemia. (11263442)
2001
18
Acute megakaryocytic leukemia: the Eastern Cooperative Oncology Group experience. (11001891)
2000
19
Hepatic involvement by congenital megakaryocytic leukemia in a neonate: sonographic features. (10511179)
1999
20
Effect of arsenic trioxide on viability, proliferation, and apoptosis in human megakaryocytic leukemia cell lines. (10340400)
1999
21
Induction of apoptosis in megakaryocytic leukemia cell lines by MX2, a morpholino anthracycline. (9293905)
1997
22
I-131 localization in acute megakaryocytic leukemia. (8957609)
1996
23
Urticarial vasculitis as clinical presentation of megakaryocytic leukemia. (19078105)
1996
24
IL-3 and ribavirin induce differentiation and growth suppression during long-term treatment of a megakaryocytic leukemia cell line. (7593232)
1995
25
IL-3 and ribavirin induce high level expression of megakaryocytic markers and messages during long-term treatment of a megakaryocytic leukemia cell line. (8021297)
1994
26
Phenotypic characteristics of acute megakaryocytic leukemia and transient abnormal myelopoiesis. (8069184)
1994
27
Expression of platelet alpha-granule proteins in a human megakaryocytic leukemia cell line (CMK 11-5). (7693024)
1993
28
Human stem cell factor (c-kit ligand) induces an autocrine loop of growth in a GM-CSF-dependent megakaryocytic leukemia cell line. (7678880)
1993
29
A case of acute megakaryocytic leukemia with hematogones. (8231260)
1993
30
Induction of smg p21/rap1A p21/krev-1 p21 gene expression during phorbol ester-induced differentiation of a human megakaryocytic leukemia cell line. (1549353)
1992
31
Ultrastructural analysis of platelet-like particles from a human megakaryocytic leukemia cell line (CMK 11-5). (1391807)
1992
32
Modulation of GM-CSF receptor beta-subunit and interleukin-6 receptor mRNA expression in a human megakaryocytic leukemia cell line. (1290964)
1992
33
The translocation t(1;22)(p13;q13) is a nonrandom marker specifically associated with acute megakaryocytic leukemia in young children. (1596573)
1992
34
Expression of CD56/NCAM on hematopoietic malignant cells. A useful marker for acute monocytic and megakaryocytic leukemias. (1721853)
1991
35
Different expression of CD36 antigen molecule on the surface of megakaryocyte lineage leukemias and megakaryocyte leukemia cell lines MEG-01 and HEL. (1695706)
1990
36
Cytosolic calcium mobilization and thromboxane synthesis in a human megakaryocytic leukemia cell. (2108872)
1990
37
Acute megakaryocytic leukemia. (2593724)
1989
38
Evidence for clonal development and stem cell origin of M7 megakaryocytic leukemia. (3374169)
1988
39
Flow cytometry shows recurrent aneuploid clone after remission in megakaryocytic leukemia. (3195626)
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 megakaryocytic leukemia. Flow cytometric analysis of DNA content at diagnosis and during the course of therapy. (3664428)
1987
43
Initial characterization of a human megakaryocytic leukemia cell line, EST-IU. (3725784)
1986
44
Acute megakaryocytic leukemia following chemotherapy for a malignant teratoma. (6198998)
1984
45
Megakaryocytic leukemia in a dog. (567874)
1978
46
Acute megakaryocytic leukemia. Description of a case initially seen as preleukemia syndrome. (565623)
1978
47
Aleukemic megakaryocytic leukemia. (14412375)
1960
48
A case of thrombocythemia; megakaryocytic leukemia]. (13477900)
1957
49
Three cases of megakaryocytic leukemia. (14789510)
1950
50
Acute megakaryocytic leukemia. (18899024)
1948

Variations for Megakaryocytic Leukemia

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Expression for genes affiliated with Megakaryocytic Leukemia

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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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Pathways related to Megakaryocytic Leukemia according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9GATA1, SPEN
29.4CSF1R, ITGA2B
39.2GATA1, IL3, GFI1B
49.1GATA1, CSF2RB, IL3
5
Show member pathways
Type III interferon signaling37
9.0IL3, IL11RA, CSF2RB
6
Show member pathways
8.9CSF1R, CSF2RB, IL3
78.8ITGA2B, IL3, CSF1R
8
Show member pathways
8.5IL3, IL11RA, CSF2RB, CSF1R
9
Show member pathways
8.5IL3, IL11RA, CSF2RB, CSF1R
108.4CSF1R, IL11RA, IL3, ITGA2B
11
Show member pathways
8.0ITGA2B, IL3, IL11RA, CSF2RB, CSF1R
12
Show member pathways
8.0ITGA2B, IL3, IL11RA, CSF2RB, CSF1R
13
Show member pathways
8.0ITGA2B, IL3, IL11RA, CSF2RB, CSF1R

Compounds for genes affiliated with Megakaryocytic Leukemia

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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 50PharmGKB, 11DrugBank
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Compounds related to Megakaryocytic Leukemia according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1aclarubicin449.7GATA1, IL3
2bryostatin 1449.5CSF1R, IL3
3gm-csf44 2810.4IL3, CSF1R
4ara-ctp449.2CBS, IL3
5dctp44 2410.1IL3, CBS
6thromboxane44 2410.0GATA1, CBS
7vitamin d448.9IL3, CSF1R, GATA1
812-o-tetradecanoylphorbol 13-acetate448.7GATA1, CSF1R, IL3, ITGA2B
9cytarabine44 50 1110.4GATA1, CSF1R, IL3, CBS
10cysteine448.0CSF1R, IL3, ITGA2B, CBS
11serine447.7GATA1, CSF1R, IL3, ITGA2B, CBS

GO Terms for genes affiliated with Megakaryocytic Leukemia

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Cellular components related to Megakaryocytic Leukemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcriptional repressor complexGO:0170539.9GATA1, SPEN
2integral component of plasma membraneGO:0058878.0CSF1R, CSF2RB, MAL, IL11RA, ITGA2B

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

idNameGO IDScoreTop Affiliating Genes
1platelet aggregationGO:0705279.5GATA1, ITGA2B
2positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.5GATA1, IL3
3embryonic hemopoiesisGO:0351629.2GATA1, IL3

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region sequence-specific DNA bindingGO:0009769.9GATA1, MKL1
2RNA polymerase II transcription factor bindingGO:0010859.4GATA1, GFI1B, SPEN
3protein bindingGO:0055156.6SPEN, MKL1, GFI1B, CBS, ITGA2B, MAL

Products for genes affiliated with Megakaryocytic Leukemia

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  • Antibodies
  • Proteins
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet