MCID: CBP001
MIFTS: 29

Cebpa-Associated Familial Acute Myeloid Leukemia

Categories: Cancer diseases, Genetic diseases

Aliases & Classifications for Cebpa-Associated Familial Acute Myeloid Leukemia

MalaCards integrated aliases for Cebpa-Associated Familial Acute Myeloid Leukemia:

Name: Cebpa-Associated Familial Acute Myeloid Leukemia 24
Familial Acute Myeloid Leukemia with Mutated Cebpa 72
Cebpa-Dependent Familial Acute Myeloid Leukemia 24

Characteristics:

GeneReviews:

24
Penetrance Analysis of pedigrees reported to date suggests that germline cebpa pathogenic variants exhibit high penetrance for the development of aml [nickels et al 2013, tawana et al 2015]. the penetrance of pathogenic variants may vary within and between families; data from ten families with germline cebpa pathogenic variants revealed that more than 80% of confirmed or presumed obligate adult heterozygotes have developed disease to date [tawana et al 2015].

Classifications:



External Ids:

UMLS 72 C3711382

Summaries for Cebpa-Associated Familial Acute Myeloid Leukemia

MalaCards based summary : Cebpa-Associated Familial Acute Myeloid Leukemia, also known as familial acute myeloid leukemia with mutated cebpa, is related to leukemia and myeloid leukemia. An important gene associated with Cebpa-Associated Familial Acute Myeloid Leukemia is CBFB (Core-Binding Factor Subunit Beta), and among its related pathways/superpathways are Endometrial cancer and NF-kappaB Signaling. Affiliated tissues include myeloid, and related phenotypes are no effect and cellular

GeneReviews: NBK47457

Related Diseases for Cebpa-Associated Familial Acute Myeloid Leukemia

Diseases related to Cebpa-Associated Familial Acute Myeloid Leukemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 leukemia 28.8 RUNX1 NPM1 MLF1 KIT JAK2 FLT3
2 myeloid leukemia 27.3 RUNX1 PICALM NPM1 MLF1 KIT JAK2
3 leukemia, acute myeloid 22.2 TERT SH3GL1 RUNX1 PICALM NUP214 NSD1
4 familial acute myeloid leukemia with mutated cebpa 11.8
5 subacute myeloid leukemia 10.5 JAK2 FLT3
6 acute myeloblastic leukemia without maturation 10.5 NPM1 FLT3
7 cytogenetically normal acute myeloid leukemia 10.3 NPM1 FLT3 CEBPA
8 acute myeloblastic leukemia with maturation 10.3 NPM1 KIT FLT3
9 hematopoietic stem cell transplantation 10.3
10 aggressive digital papillary adenocarcinoma 10.2 KRAS KIT
11 myeloid sarcoma 10.2 NPM1 KIT FLT3
12 b-cell childhood acute lymphoblastic leukemia 10.2 RUNX1 ETV6
13 platelet disorder, familial, with associated myeloid malignancy 10.0 RUNX1 ETV6
14 8p11 myeloproliferative syndrome 10.0 RUNX1 KIT FLT3
15 acute erythroid leukemia 10.0 PICALM JAK2 GATA2 CEBPA
16 leukemia, acute lymphoblastic 3 10.0 RUNX1 FLT3 ETV6
17 acute t cell leukemia 10.0 NUP214 MLLT10 LPP
18 lung adenoid cystic carcinoma 10.0 KRAS KIT
19 aleukemic leukemia cutis 10.0 RUNX1 NPM1 FLT3
20 acute myeloid leukemia with t(8;21)(q22;q22) translocation 9.9 RUNX1 KIT FLT3 CEBPA
21 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.8 RUNX1 KIT FLT3 ETV6 CBFB
22 leukemia, acute lymphoblastic 9.7 RUNX1 PICALM FLT3 ETV6
23 bone marrow cancer 9.7 RUNX1 KIT JAK2 FLT3 ETV6
24 juvenile myelomonocytic leukemia 9.7 RUNX1 KRAS JAK2 FLT3 DNMT3A
25 acral lentiginous melanoma 9.6 TERT KIT
26 acute promyelocytic leukemia 9.6 RUNX1 NPM1 FLT3 CEBPA
27 precursor t-cell acute lymphoblastic leukemia 9.5 PICALM NUP214 MLLT10 FLT3 ETV6
28 chronic myelomonocytic leukemia 9.5 RUNX1 KIT JAK2 FLT3 ETV6 DNMT3A
29 leukemia, chronic myeloid 9.5 RUNX1 KIT JAK2 GATA2 FLT3 ETV6
30 core binding factor acute myeloid leukemia 9.3 RUNX1 KRAS KIT JAK2 FLT3 CEBPA
31 acute leukemia 9.2 RUNX1 MLLT10 KIT JAK2 FLT3 ETV6
32 hematologic cancer 8.5 RUNX1 PICALM NPM1 MLLT10 KIT JAK2
33 myelodysplastic syndrome 7.5 TERT RUNX1 NPM1 MLF1 KRAS KIT

Graphical network of the top 20 diseases related to Cebpa-Associated Familial Acute Myeloid Leukemia:



Diseases related to Cebpa-Associated Familial Acute Myeloid Leukemia

Symptoms & Phenotypes for Cebpa-Associated Familial Acute Myeloid Leukemia

GenomeRNAi Phenotypes related to Cebpa-Associated Familial Acute Myeloid Leukemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 CBFB CEBPA CHIC2 DNMT3A ETV6 FLT3

MGI Mouse Phenotypes related to Cebpa-Associated Familial Acute Myeloid Leukemia:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.45 CBFB CEBPA DNMT3A ETV6 FLT3 GATA2
2 growth/size/body region MP:0005378 10.36 CBFB CEBPA DNMT3A ETV6 FLT3 GATA2
3 mortality/aging MP:0010768 10.32 CBFB CEBPA CHIC2 DNMT3A ETV6 FLT3
4 embryo MP:0005380 10.31 CBFB DNMT3A ETV6 GATA2 JAK2 KIT
5 hematopoietic system MP:0005397 10.31 CBFB CEBPA DNMT3A ETV6 FLT3 GATA2
6 homeostasis/metabolism MP:0005376 10.29 CBFB CEBPA DNMT3A ETV6 FLT3 GATA2
7 endocrine/exocrine gland MP:0005379 10.26 CBFB CEBPA DNMT3A ETV6 FLT3 GATA2
8 immune system MP:0005387 10.23 CBFB CEBPA DNMT3A ETV6 FLT3 JAK2
9 cardiovascular system MP:0005385 10.16 CBFB CEBPA ETV6 GATA2 KIT KRAS
10 integument MP:0010771 10.13 CBFB CEBPA CHIC2 ETV6 JAK2 KIT
11 liver/biliary system MP:0005370 10.06 CBFB CEBPA GATA2 JAK2 KIT KRAS
12 neoplasm MP:0002006 10.02 CBFB CEBPA ETV6 FLT3 JAK2 KIT
13 no phenotypic analysis MP:0003012 9.86 CBFB CEBPA ETV6 FLT3 KIT KRAS
14 normal MP:0002873 9.85 CBFB CEBPA ETV6 GATA2 JAK2 KIT
15 reproductive system MP:0005389 9.56 CEBPA DNMT3A GATA2 JAK2 KIT KRAS
16 respiratory system MP:0005388 9.17 CBFB CEBPA KIT KRAS RUNX1 SH3GL1

Drugs & Therapeutics for Cebpa-Associated Familial Acute Myeloid Leukemia

Search Clinical Trials , NIH Clinical Center for Cebpa-Associated Familial Acute Myeloid Leukemia

Genetic Tests for Cebpa-Associated Familial Acute Myeloid Leukemia

Anatomical Context for Cebpa-Associated Familial Acute Myeloid Leukemia

MalaCards organs/tissues related to Cebpa-Associated Familial Acute Myeloid Leukemia:

41
Myeloid

Publications for Cebpa-Associated Familial Acute Myeloid Leukemia

Articles related to Cebpa-Associated Familial Acute Myeloid Leukemia:

(show all 30)
# Title Authors PMID Year
1
Disease evolution and outcomes in familial AML with germline CEBPA mutations. 4
26162409 2015
2
The role of different genetic subtypes of CEBPA mutated AML. 4
24056881 2014
3
Recognizing familial myeloid leukemia in adults. 4
23926458 2013
4
Concordant acute myeloblastic leukemia in monozygotic twins with germline and shared somatic mutations in the gene for CCAAT-enhancer-binding protein α with 13 years difference at onset. 4
23716546 2013
5
C/EBPa controls acquisition and maintenance of adult haematopoietic stem cell quiescence. 4
23502316 2013
6
Allogeneic stem cell transplant to eliminate germline mutations in the gene for CCAAT-enhancer-binding protein α from hematopoietic cells in a family with AML. 4
21455213 2011
7
First report of multiple CEBPA mutations contributing to donor origin of leukemia relapse after allogeneic hematopoietic stem cell transplantation. 4
21403128 2011
8
Characterization of CEBPA mutations and promoter hypermethylation in pediatric acute myeloid leukemia. 4
21134981 2011
9
Prognostic impact, concurrent genetic mutations, and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML patients: further evidence for CEBPA double mutant AML as a distinctive disease entity. 4
21177436 2011
10
Prognostic significance of CEBPA mutations in a large cohort of younger adult patients with acute myeloid leukemia: impact of double CEBPA mutations and the interaction with FLT3 and NPM1 mutations. 4
20439648 2010
11
A family harboring a germ-line N-terminal C/EBPalpha mutation and development of acute myeloid leukemia with an additional somatic C-terminal C/EBPalpha mutation. 4
19953636 2010
12
Acute myeloid leukemia with biallelic CEBPA gene mutations and normal karyotype represents a distinct genetic entity associated with a favorable clinical outcome. 4
20038735 2010
13
Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. 4
19880497 2010
14
Hematopoietic stem cell expansion precedes the generation of committed myeloid leukemia-initiating cells in C/EBPalpha mutant AML. 4
19878871 2009
15
Complexity of CEBPA dysregulation in human acute myeloid leukemia. 4
19706798 2009
16
Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation. 4
18946494 2009
17
Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis. 4
19277035 2009
18
Dysregulation of the C/EBPalpha differentiation pathway in human cancer. 4
19075268 2009
19
Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. 4
18768433 2008
20
Cooperating gene mutations in acute myeloid leukemia: a review of the literature. 4
18288131 2008
21
Modeling of C/EBPalpha mutant acute myeloid leukemia reveals a common expression signature of committed myeloid leukemia-initiating cells. 4
18394553 2008
22
Familial myelodysplasia and acute myeloid leukaemia--a review. 4
18173751 2008
23
Transcriptional dysregulation during myeloid transformation in AML. 4
17934489 2007
24
AML patients with CEBPalpha mutations mostly retain identical mutant patterns but frequently change in allelic distribution at relapse: a comparative analysis on paired diagnosis and relapse samples. 4
16453003 2006
25
Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia. 4
15902292 2005
26
Mutation of CEBPA in familial acute myeloid leukemia. 4
15575056 2004
27
Evidence for allelic evolution of C/EBPalpha mutations in acute myeloid leukaemia. 4
14616999 2003
28
[Clinical and genetic background of familial myelodysplasia and acute myeloid leukemia]. 38
26876264 2016
29
Inherited predisposition to acute myeloid leukemia. 38
25311743 2014
30
CEBPA-Associated Familial Acute Myeloid Leukemia (AML) 38
20963938 2010

Variations for Cebpa-Associated Familial Acute Myeloid Leukemia

Expression for Cebpa-Associated Familial Acute Myeloid Leukemia

Search GEO for disease gene expression data for Cebpa-Associated Familial Acute Myeloid Leukemia.

Pathways for Cebpa-Associated Familial Acute Myeloid Leukemia

GO Terms for Cebpa-Associated Familial Acute Myeloid Leukemia

Cellular components related to Cebpa-Associated Familial Acute Myeloid Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.9 TERT RUNX1 NUP214 NSD1 NPM1 MLLT10
2 focal adhesion GO:0005925 9.65 NUP214 NPM1 LPP KRAS JAK2
3 nucleus GO:0005634 9.53 TERT RUNX1 PICALM NUP214 NSD1 NPM1
4 core-binding factor complex GO:0016513 8.96 RUNX1 CBFB
5 cytosol GO:0005829 10.1 TERT SH3GL1 RUNX1 PICALM NUP214 NPM1

Biological processes related to Cebpa-Associated Familial Acute Myeloid Leukemia according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.99 NPM1 KRAS KIT JAK2 FLT3
2 negative regulation of gene expression GO:0010629 9.87 TERT RUNX1 PICALM GATA2
3 MAPK cascade GO:0000165 9.84 KRAS KIT JAK2 FLT3
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.8 RUNX1 NSD1 GATA2 ETV6 DNMT3A CEBPA
5 cytokine-mediated signaling pathway GO:0019221 9.72 KRAS KIT JAK2 FLT3 CEBPA
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.7 KIT JAK2 FLT3
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.69 KIT JAK2 FLT3
8 positive regulation of MAP kinase activity GO:0043406 9.65 KRAS KIT FLT3
9 regulation of regulatory T cell differentiation GO:0045589 9.62 RUNX1 CBFB
10 regulation of keratinocyte differentiation GO:0045616 9.62 RUNX1 CBFB
11 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.61 RUNX1 CBFB
12 definitive hemopoiesis GO:0060216 9.61 GATA2 CBFB
13 regulation of bicellular tight junction assembly GO:2000810 9.58 RUNX1 CBFB
14 hematopoietic stem cell proliferation GO:0071425 9.58 RUNX1 ETV6
15 regulation of myeloid cell differentiation GO:0045637 9.56 RUNX1 CBFB
16 regulation of B cell receptor signaling pathway GO:0050855 9.55 RUNX1 CBFB
17 cell maturation GO:0048469 9.54 GATA2 CEBPA CBFB
18 regulation of cytokine-mediated signaling pathway GO:0001959 9.49 RUNX1 CBFB
19 positive regulation of CD8-positive, alpha-beta T cell differentiation GO:0043378 9.43 RUNX1 CBFB
20 negative regulation of CD4-positive, alpha-beta T cell differentiation GO:0043371 9.4 RUNX1 CBFB
21 regulation of hematopoietic stem cell differentiation GO:1902036 9.33 RUNX1 GATA2 CBFB
22 myeloid progenitor cell differentiation GO:0002318 9.13 MLF1 KIT FLT3
23 hemopoiesis GO:0030097 9.02 RUNX1 PICALM KIT GATA2 FLT3
24 positive regulation of transcription, DNA-templated GO:0045893 10.03 RUNX1 PICALM NSD1 NPM1 CEBPA
25 cell differentiation GO:0030154 10 MLF1 JAK2 GATA2 FLT3 ETV6
26 positive regulation of transcription by RNA polymerase II GO:0045944 10 RUNX1 NPM1 MLLT10 GATA2 ETV6 CEBPA

Molecular functions related to Cebpa-Associated Familial Acute Myeloid Leukemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 TERT RUNX1 MLLT10 MLF1 GATA2 ETV6
2 DNA-binding transcription factor activity GO:0003700 9.8 RUNX1 MLLT10 GATA2 ETV6 CEBPA CBFB
3 protein binding GO:0005515 9.62 TERT SH3GL1 RUNX1 PICALM NUP214 NSD1
4 chromatin binding GO:0003682 9.55 NSD1 NPM1 MLLT10 GATA2 DNMT3A
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.43 RUNX1 NSD1 GATA2 ETV6 DNMT3A CEBPA

Sources for Cebpa-Associated Familial Acute Myeloid Leukemia

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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33 ICD10
34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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