MCID: ACT186
MIFTS: 16

Acute Megakaryoblastic Leukemia in Down Syndrome

Categories: Blood diseases, Cancer diseases, Rare diseases

Aliases & Classifications for Acute Megakaryoblastic Leukemia in Down Syndrome

MalaCards integrated aliases for Acute Megakaryoblastic Leukemia in Down Syndrome:

Name: Acute Megakaryoblastic Leukemia in Down Syndrome 58
Ds-Amkl 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 C94.2
Orphanet 58 ORPHA99887

Summaries for Acute Megakaryoblastic Leukemia in Down Syndrome

MalaCards based summary : Acute Megakaryoblastic Leukemia in Down Syndrome, also known as ds-amkl, is related to acute megakaryoblastic leukemia without down syndrome and down syndrome. An important gene associated with Acute Megakaryoblastic Leukemia in Down Syndrome is GATA1 (GATA Binding Protein 1). Affiliated tissues include myeloid, liver and fetal liver.

Related Diseases for Acute Megakaryoblastic Leukemia in Down Syndrome

Diseases related to Acute Megakaryoblastic Leukemia in Down Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 acute megakaryoblastic leukemia without down syndrome 11.6
2 down syndrome 10.5
3 megakaryocytic leukemia 10.5
4 leukemia 10.3
5 chromosomal triplication 10.3
6 keratitis, hereditary 10.1
7 myelofibrosis 10.1
8 acute leukemia 10.1
9 thrombocytopenia 10.1
10 myeloproliferative neoplasm 10.1
11 exophthalmos 10.1
12 exposure keratitis 10.1

Graphical network of the top 20 diseases related to Acute Megakaryoblastic Leukemia in Down Syndrome:



Diseases related to Acute Megakaryoblastic Leukemia in Down Syndrome

Symptoms & Phenotypes for Acute Megakaryoblastic Leukemia in Down Syndrome

Drugs & Therapeutics for Acute Megakaryoblastic Leukemia in Down Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Analysis of MicroRNA Expression in Down Syndrome Acute Myeloid Leukemia and the Transient Myeloproliferative Disorder Completed NCT01511575

Search NIH Clinical Center for Acute Megakaryoblastic Leukemia in Down Syndrome

Genetic Tests for Acute Megakaryoblastic Leukemia in Down Syndrome

Anatomical Context for Acute Megakaryoblastic Leukemia in Down Syndrome

MalaCards organs/tissues related to Acute Megakaryoblastic Leukemia in Down Syndrome:

40
Myeloid, Liver, Fetal Liver

Publications for Acute Megakaryoblastic Leukemia in Down Syndrome

Articles related to Acute Megakaryoblastic Leukemia in Down Syndrome:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Clinical Characteristics and Prognosis of 27 Patients with Childhood Acute Megakaryoblastic Leukemia. 61
32532951 2020
2
Acute Megakaryocytic Leukemia. 61
31548219 2020
3
Epigenetic drug screen identifies the histone deacetylase inhibitor NSC3852 as a potential novel drug for the treatment of pediatric acute myeloid leukemia. 61
31044544 2019
4
The changing scenario of non-Down syndrome acute megakaryoblastic leukemia in children. 61
31092368 2019
5
CBFA2T3-GLIS2-positive acute myeloid leukaemia. A peculiar paediatric entity. 61
30592296 2019
6
[Prognostic significance of chimeric fusion gene analysis in pediatric acute megakaryoblastic leukemia]. 61
30842387 2019
7
Pediatric Acute Megakaryoblastic Leukemia: Multitasking Fusion Proteins and Oncogenic Cooperations. 61
28867167 2017
8
Cohesin Mutations in Myeloid Malignancies. 61
28626802 2017
9
New hPSC-based human models to study pediatric Acute Megakaryoblastic Leukemia harboring the fusion oncogene RBM15-MKL1. 61
28412998 2017
10
Pediatric non-Down syndrome acute megakaryoblastic leukemia is characterized by distinct genomic subsets with varying outcomes. 61
28112737 2017
11
Disulfiram overcomes bortezomib and cytarabine resistance in Down-syndrome-associated acute myeloid leukemia cells. 61
28143565 2017
12
Hh/Gli antagonist in acute myeloid leukemia with CBFA2T3-GLIS2 fusion gene. 61
28109323 2017
13
Clinical Courses of Two Pediatric Patients with Acute Megakaryoblastic Leukemia Harboring the CBFA2T3-GLIS2 Fusion Gene. 61
27094503 2016
14
Distinct GATA1 Point Mutations in Monozygotic Twins With Down Syndrome and Transient Abnormal Myelopoiesis From a Triplet Pregnancy: A Case Report and Review of Literature. 61
28028114 2016
15
The biology of pediatric acute megakaryoblastic leukemia. 61
26186939 2015
16
Acute megakaryoblastic leukemia associated with trisomy 21 demonstrates a distinct immunophenotype. 61
25361478 2015
17
Clinical and hematological profile of acute megakaryoblastic leukemia: a 2 year study. 61
25825554 2015
18
Early lineage priming by trisomy of Erg leads to myeloproliferation in a Down syndrome model. 61
25973911 2015
19
Acute megakaryoblastic leukemia with acquired trisomy 21 and GATA1 mutations in phenotypically normal children. 61
25266042 2015
20
Integrated differential transcriptome maps of Acute Megakaryoblastic Leukemia (AMKL) in children with or without Down Syndrome (DS). 61
25476127 2014
21
Acute Megakaryoblastic Leukemia Associated with Trisomy 21 Demonstrates a Distinct Immunophenotype. 61
25302938 2014
22
Histone deacetylase inhibitors induce apoptosis in myeloid leukemia by suppressing autophagy. 61
24080946 2014
23
The landscape of somatic mutations in Down syndrome-related myeloid disorders. 61
24056718 2013
24
Development of acute megakaryoblastic leukemia in Down syndrome is associated with sequential epigenetic changes. 61
23980066 2013
25
Developmental differences in IFN signaling affect GATA1s-induced megakaryocyte hyperproliferation. 61
23863621 2013
26
Universal tight correlation of codon bias and pool of RNA codons (codonome): The genome is optimized to allow any distribution of gene expression values in the transcriptome from bacteria to humans. 61
23466472 2013
27
Overexpression of GATA1 confers resistance to chemotherapy in acute megakaryocytic Leukemia. 61
23874683 2013
28
An Inv(16)(p13.3q24.3)-encoded CBFA2T3-GLIS2 fusion protein defines an aggressive subtype of pediatric acute megakaryoblastic leukemia. 61
23153540 2012
29
The GATA1s isoform is normally down-regulated during terminal haematopoietic differentiation and over-expression leads to failure to repress MYB, CCND2 and SKI during erythroid differentiation of K562 cells. 61
22853316 2012
30
Increased dosage of the chromosome 21 ortholog Dyrk1a promotes megakaryoblastic leukemia in a murine model of Down syndrome. 61
22354171 2012
31
Molecular lesions in childhood and adult acute megakaryoblastic leukaemia. 61
22122069 2012
32
Neonatal and adult megakaryopoiesis. 61
21738028 2011
33
A unique role of GATA1s in Down syndrome acute megakaryocytic leukemia biology and therapy. 61
22110660 2011
34
Myeloid leukemia in Down syndrome. 61
22150305 2011
35
Developmental stage-specific interplay of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis. 61
20679399 2010
36
A rare case of GATA1 negative chemoresistant acute megakaryocytic leukemia in an 8-month-old infant with trisomy 21. 61
20108342 2010
37
Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome. 61
20154221 2010
38
miR-125b-2 is a potential oncomiR on human chromosome 21 in megakaryoblastic leukemia. 61
20194440 2010
39
Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis. 61
19594743 2009
40
Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome. 61
19633202 2009
41
Down syndrome and malignancies: a unique clinical relationship: a paper from the 2008 william beaumont hospital symposium on molecular pathology. 61
19710397 2009
42
RUNX1 regulates phosphoinositide 3-kinase/AKT pathway: role in chemotherapy sensitivity in acute megakaryocytic leukemia. 61
19638627 2009
43
GATA1 mutations in patients with down syndrome and acute megakaryoblastic leukaemia do not always confer a good prognosis. 61
19260099 2009
44
ETS2 and ERG promote megakaryopoiesis and synergize with alterations in GATA-1 to immortalize hematopoietic progenitor cells. 61
19168790 2009
45
Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia. 61
18927438 2009
46
Abnormalities in the myeloid progenitor compartment in Down syndrome fetal liver precede acquisition of GATA1 mutations. 61
18689547 2008
47
A novel mutation in the GATA1 gene associated with acute megakaryoblastic leukemia in a Korean Down syndrome patient. 61
19119459 2008
48
Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome. 61
18397343 2008
49
Acute megakaryoblastic leukaemia (AMKL) in children: a comparison of AMKL with and without Down syndrome. 61
18275433 2008
50
The role of the proto-oncogene ETS2 in acute megakaryocytic leukemia biology and therapy. 61
18094719 2008

Variations for Acute Megakaryoblastic Leukemia in Down Syndrome

Expression for Acute Megakaryoblastic Leukemia in Down Syndrome

Search GEO for disease gene expression data for Acute Megakaryoblastic Leukemia in Down Syndrome.

Pathways for Acute Megakaryoblastic Leukemia in Down Syndrome

GO Terms for Acute Megakaryoblastic Leukemia in Down Syndrome

Sources for Acute Megakaryoblastic Leukemia in Down Syndrome

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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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