MCID: 8P1002
MIFTS: 40

8p11 Myeloproliferative Syndrome

Categories: Blood diseases, Immune diseases, Cancer diseases, Rare diseases

Aliases & Classifications for 8p11 Myeloproliferative Syndrome

MalaCards integrated aliases for 8p11 Myeloproliferative Syndrome:

Name: 8p11 Myeloproliferative Syndrome 24
Myeloid and Lymphoid Neoplasms with Fgfr1 Abnormalities 24
Myeloid and Lymphoid Neoplasms with Fgfr1 Rearrangement 69
Chromosome 8p11 Myeloproliferative Syndrome 69
8p11 Stem Cell Leukemia/lymphoma Syndrome 24
Stem Cell Leukemia/lymphoma 24
8p11 Stem Cell Syndrome 24

Classifications:



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Summaries for 8p11 Myeloproliferative Syndrome

Genetics Home Reference : 24 8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative syndrome can develop both myeloid cell cancer and lymphoid cell cancer.

MalaCards based summary : 8p11 Myeloproliferative Syndrome, also known as myeloid and lymphoid neoplasms with fgfr1 abnormalities, is related to chromosome 8p11 myeloproliferative syndrome and acute leukemia. An important gene associated with 8p11 Myeloproliferative Syndrome is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are HIV Life Cycle and CREB Pathway. Affiliated tissues include myeloid, b cells and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for 8p11 Myeloproliferative Syndrome

Diseases in the 8p11 Myeloproliferative Syndrome family:

Myeloproliferative Syndrome, Transient Myeloproliferative Disease, Autosomal Recessive

Diseases related to 8p11 Myeloproliferative Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 chromosome 8p11 myeloproliferative syndrome 34.6 FGFR1 SCLL
2 acute leukemia 30.0 FLT3 KIT RUNX1
3 myeloid leukemia 29.6 BCR FLT3 KIT RUNX1
4 leukemia, acute myeloid 29.4 BCR FLT3 KIT RUNX1 ZMYM2
5 leukemia 29.2 BCR FLT3 KIT RUNX1
6 primary hypereosinophilic syndrome 10.4 FGFR1 PDGFRB
7 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.4 FGFR1 PDGFRB
8 acute myeloblastic leukemia with maturation 10.3 FLT3 KIT
9 desmoid tumor 10.3 KIT PDGFRB
10 hypereosinophilic syndrome, idiopathic 10.3 KIT PDGFRB
11 polykaryocytosis inducer 10.2
12 systemic mastocytosis 10.2 FGFR1 KIT PDGFRB
13 pulmonary vein stenosis 10.2 KDR KIT
14 acute myeloid leukemia with t(8;21)(q22;q22) translocation 10.2 FLT3 KIT RUNX1
15 hypereosinophilic syndrome 10.2 FGFR1 KIT PDGFRB
16 lymphoma 10.2
17 lymphoid leukemia 10.1 BCR RUNX1
18 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.1 FLT3 KIT RUNX1
19 core binding factor acute myeloid leukemia 10.1 FLT3 KIT RUNX1
20 senile angioma 10.1 KDR KIT
21 fibrosarcoma of bone 10.1 KDR KIT PDGFRB
22 vascular cancer 10.1 KDR KIT PDGFRB
23 myeloproliferative neoplasm 10.0 BCR FGFR1 PDGFRB
24 lymphoblastic leukemia 10.0
25 lymphoblastic lymphoma 10.0
26 chronic eosinophilic leukemia 9.9 FGFR1 FLT3 KIT PDGFRB
27 leukemia, acute lymphoblastic 3 9.9 BCR FLT3 RUNX1
28 leukemia, acute lymphoblastic 9.9 BCR FLT3 RUNX1
29 juvenile myelomonocytic leukemia 9.9 FLT3 PDGFRB RUNX1
30 chronic myelomonocytic leukemia 9.9 FLT3 KIT PDGFRB RUNX1
31 astrocytoma 9.8 FGFR1 KDR PDGFRB
32 gastrointestinal stromal tumor 9.8 FLT3 KIT PDGFRB
33 myelodysplastic syndrome 9.8 FLT3 KIT PDGFRB RUNX1
34 renal cell carcinoma, nonpapillary 9.7 FLT3 KDR KIT PDGFRB
35 hematologic cancer 9.5 BCR FLT3 KIT PDGFRB RUNX1
36 leukemia, chronic myeloid 9.5 BCR FLT3 KIT PDGFRB RUNX1
37 bone marrow cancer 8.8 BCR FGFR1 FGFR1OP FLT3 KIT PDGFRB

Graphical network of the top 20 diseases related to 8p11 Myeloproliferative Syndrome:



Diseases related to 8p11 Myeloproliferative Syndrome

Symptoms & Phenotypes for 8p11 Myeloproliferative Syndrome

GenomeRNAi Phenotypes related to 8p11 Myeloproliferative Syndrome according to GeneCards Suite gene sharing:

25 (show all 39)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.84 BCR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.84 KIT
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.84 TPR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.84 BCR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.84 TPR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.84 BCR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.84 TRIM24
8 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.84 BCR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.84 TRIM24 KDR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.84 TRIM24
11 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.84 KIT
12 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.84 KIT
13 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.84 BCR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.84 BCR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.84 KIT
16 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.84 BCR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.84 TPR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.84 BCR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.84 TRIM24
20 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.84 BCR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.84 KIT
22 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.84 KDR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.84 KIT
24 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.84 TRIM24
25 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.84 BCR
26 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.84 KIT TPR TRIM24 BCR KDR
27 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.84 KIT
28 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.84 KIT
29 Decreased viability GR00173-A 9.83 FLT3
30 Decreased viability GR00221-A-1 9.83 FGFR1 FLT3 KDR KIT PDGFRB
31 Decreased viability GR00221-A-2 9.83 FGFR1 KDR
32 Decreased viability GR00221-A-3 9.83 KDR PDGFRB
33 Decreased viability GR00221-A-4 9.83 FLT3 KDR PDGFRB
34 Decreased viability GR00301-A 9.83 KIT
35 Decreased viability GR00342-S-1 9.83 PDGFRB
36 Decreased substrate adherent cell growth GR00193-A-1 9.63 KIT
37 Decreased substrate adherent cell growth GR00193-A-2 9.63 KIT
38 Decreased substrate adherent cell growth GR00193-A-4 9.63 FGFR1 FLT3 KDR KIT
39 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.56 FGFR1 FLT3 KDR PDGFRB

MGI Mouse Phenotypes related to 8p11 Myeloproliferative Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.96 BCR FGF1 FGFR1 FGFR1OP FLT3 KDR
2 homeostasis/metabolism MP:0005376 9.9 FGFR1OP FLT3 KDR KIT NSMAF PDGFRB
3 mortality/aging MP:0010768 9.7 BCR FGFR1 FGFR1OP FLT3 KDR KIT
4 vision/eye MP:0005391 9.17 CNTRL FGFR1 FGFR1OP KDR KIT MYO18A

Drugs & Therapeutics for 8p11 Myeloproliferative Syndrome

Search Clinical Trials , NIH Clinical Center for 8p11 Myeloproliferative Syndrome

Genetic Tests for 8p11 Myeloproliferative Syndrome

Anatomical Context for 8p11 Myeloproliferative Syndrome

MalaCards organs/tissues related to 8p11 Myeloproliferative Syndrome:

38
Myeloid, B Cells, Bone, Bone Marrow

Publications for 8p11 Myeloproliferative Syndrome

Articles related to 8p11 Myeloproliferative Syndrome:

(show all 34)
# Title Authors Year
1
Primary cells in BCR/FGFR1 positive 8p11 myeloproliferative syndrome are sensitive to dovitinib, ponatinib, and dasatinib. ( 28881484 )
2017
2
8p11 Myeloproliferative Syndrome with t(7;8) Translocation Presenting as Acute Myeloid Leukemia: A Case Report and Literature Review. ( 27188774 )
2016
3
8p11 myeloproliferative syndrome: diagnostic challenges and pitfalls. ( 27569099 )
2016
4
Diagnostic application of next-generation sequencing in ZMYM2-FGFR1 8p11 myeloproliferative syndrome: A case report. ( 27415155 )
2016
5
8p11 myeloproliferative syndrome: A case report of this rare clinical entity. ( 25885151 )
2015
6
Screening of Drugs to Treat 8p11 Myeloproliferative Syndrome Using Patient-Derived Induced Pluripotent Stem Cells with Fusion Gene CEP110-FGFR1. ( 25803811 )
2015
7
Functional characterization, localization, and inhibitor sensitivity of the TPR-FGFR1 fusion in 8p11 myeloproliferative syndrome. ( 26391436 )
2015
8
8p11 Myeloproliferative Syndrome with t(1;8)(q25;p11.2): A Case Report and Review of the Literature. ( 25227135 )
2014
9
A case of 8p11 myeloproliferative syndrome with BCR-FGFR1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation. ( 23171834 )
2013
10
Quantitative polymerase chain reaction detection of CEP110-FGFR1 fusion gene in a patient with 8p11 myeloproliferative syndrome. ( 23327291 )
2013
11
Ponatinib as targeted therapy for FGFR1 fusions associated with the 8p11 myeloproliferative syndrome. ( 22875613 )
2013
12
Identification of a novel partner gene, TPR, fused to FGFR1 in 8p11 myeloproliferative syndrome. ( 22619110 )
2012
13
A novel t(1;8)(q25;p11.2) translocation associated with 8p11 myeloproliferative syndrome. ( 21848523 )
2012
14
Favorable outcome of allogeneic hematopoietic cell transplantation for 8p11 myeloproliferative syndrome associated with BCR-FGFR1 gene fusion. ( 22106025 )
2012
15
8p11 Myeloproliferative syndrome with BCR-FGFR1 rearrangement presenting with T-lymphoblastic lymphoma and bone marrow stromal cell proliferation: a case report and review of the literature. ( 21239058 )
2011
16
The 8p11 myeloproliferative syndrome owing to rare FGFR1OP2-FGFR1 fusion. ( 21198859 )
2011
17
Complete molecular remission after interferon alpha treatment in a case of 8p11 myeloproliferative syndrome. ( 20650528 )
2010
18
8p11 myeloproliferative syndrome: a review. ( 20226962 )
2010
19
Translocation t(3;8;9)(p25;p21;q34) in a patient with features of 8p11 myeloproliferative syndrome: a unique case and review of the literature. ( 20541805 )
2010
20
B-cell acute lymphoblastic leukemia as evolution of a 8p11 myeloproliferative syndrome with t(8;22)(p11;q11) and BCR-FGFR1 fusion gene. ( 20594995 )
2010
21
Biphenotypic hematologic malignancy: a case report of the 8p11 myeloproliferative syndrome in a child. ( 20562652 )
2010
22
LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferative syndrome. ( 19369959 )
2009
23
Molecular monitoring of 8p11 myeloproliferative syndrome in an infant. ( 19829149 )
2009
24
The 8p11 myeloproliferative syndrome: review of literature and an illustrative case report. ( 18787627 )
2008
25
8p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality. ( 18295660 )
2008
26
The 8p11 myeloproliferative syndrome in a 3-year-old child. ( 17555813 )
2008
27
Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome. ( 17394134 )
2007
28
Activity of TKI258 against primary cells and cell lines with FGFR1 fusion genes associated with the 8p11 myeloproliferative syndrome. ( 17698633 )
2007
29
A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene. ( 16879608 )
2006
30
8p11 myeloproliferative syndrome with a novel t(7;8) translocation leading to fusion of the FGFR1 and TIF1 genes. ( 15609342 )
2005
31
The t(8;17)(p11;q23) in the 8p11 myeloproliferative syndrome fuses MYO18A to FGFR1. ( 15800673 )
2005
32
Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome. ( 15034873 )
2004
33
The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation of FGFR1. ( 11919391 )
2002
34
[The 8p11 myeloproliferative syndrome]. ( 10373756 )
1999

Variations for 8p11 Myeloproliferative Syndrome

Expression for 8p11 Myeloproliferative Syndrome

Search GEO for disease gene expression data for 8p11 Myeloproliferative Syndrome.

Pathways for 8p11 Myeloproliferative Syndrome

Pathways related to 8p11 Myeloproliferative Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2
2
Show member pathways
13.16 FGF1 FGFR1 FLT3 KDR KIT PDGFRB
3
Show member pathways
13.1 FGF1 FGFR1 FLT3 KDR KIT PDGFRB
4
Show member pathways
12.89 FGF1 FGFR1 FLT3 KDR KIT PDGFRB
5
Show member pathways
12.85 FGF1 FGFR1 FLT3 KDR KIT PDGFRB
6
Show member pathways
12.81 FGFR1 FLT3 KDR KIT PDGFRB
7 12.66 FGF1 FGFR1 FLT3 KDR KIT PDGFRB
8
Show member pathways
12.61 FGF1 FGFR1 FLT3 KDR KIT PDGFRB
9 12.58 BCR FGF1 FGFR1 FLT3 KIT PDGFRB
10
Show member pathways
12.33 FGFR1 KDR PDGFRB TRIM24
11
Show member pathways
12.11 FGFR1 FGFR1OP FGFR1OP2 KDR
12 11.89 KDR PDGFRB RUNX1
13 11.86 BCR FGF1 FGFR1 FLT3 KDR KIT
14
Show member pathways
11.81 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2
15 11.76 FGF1 FGFR1 KDR PDGFRB
16
Show member pathways
11.64 FGFR1 FLT3 KDR KIT PDGFRB
17 11.59 FGFR1 FLT3 KIT PDGFRB
18
Show member pathways
11.55 BCR KDR KIT PDGFRB
19 11.36 FGF1 FGFR1 KDR PDGFRB
20
Show member pathways
11.23 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2
21 10.92 FGF1 FGFR1 FLT3 KDR KIT PDGFRB

GO Terms for 8p11 Myeloproliferative Syndrome

Cellular components related to 8p11 Myeloproliferative Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.7 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2
2 cytoplasm GO:0005737 9.5 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2

Biological processes related to 8p11 Myeloproliferative Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.95 BCR FGFR1 FLT3 KDR KIT PDGFRB
2 positive regulation of cell proliferation GO:0008284 9.91 FGF1 FGFR1 FGFR1OP FLT3 KDR KIT
3 MAPK cascade GO:0000165 9.88 FGF1 FGFR1 KIT PDGFRB
4 positive regulation of protein kinase B signaling GO:0051897 9.83 FGF1 FGFR1 KIT PDGFRB
5 positive regulation of cell migration GO:0030335 9.83 FGF1 FGFR1OP KDR KIT PDGFRB
6 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.81 FLT3 KDR KIT PDGFRB
7 phosphatidylinositol phosphorylation GO:0046854 9.78 FGF1 FGFR1 KIT PDGFRB
8 positive regulation of angiogenesis GO:0045766 9.77 FGF1 KDR RUNX1
9 positive regulation of MAPK cascade GO:0043410 9.76 FGFR1 FLT3 KDR KIT
10 hemopoiesis GO:0030097 9.74 FLT3 KIT RUNX1
11 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.67 FLT3 KIT PDGFRB
12 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.65 FGFR1 FLT3 KDR KIT PDGFRB
13 embryonic hemopoiesis GO:0035162 9.59 KDR KIT
14 organ induction GO:0001759 9.58 FGF1 FGFR1
15 vascular endothelial growth factor signaling pathway GO:0038084 9.56 FLT3 KDR
16 myeloid progenitor cell differentiation GO:0002318 9.55 FLT3 KIT
17 positive regulation of MAP kinase activity GO:0043406 9.55 FGF1 FGFR1 FLT3 KIT PDGFRB
18 positive regulation of phospholipase C activity GO:0010863 9.5 FGFR1 KIT PDGFRB
19 protein autophosphorylation GO:0046777 9.5 BCR FGFR1 FLT3 KDR KIT PDGFRB
20 peptidyl-tyrosine phosphorylation GO:0018108 9.4 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2
21 phosphorylation GO:0016310 10.01 BCR FGFR1 FLT3 KDR KIT PDGFRB

Molecular functions related to 8p11 Myeloproliferative Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.95 FGFR1 FGFR1OP FGFR1OP2 FLT3 KIT TPR
2 kinase activity GO:0016301 9.91 BCR FGFR1 FLT3 KDR KIT PDGFRB
3 protein kinase activity GO:0004672 9.73 FGFR1 FLT3 KDR KIT PDGFRB TRIM24
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.62 FGF1 FGFR1 KIT PDGFRB
5 signal transducer, downstream of receptor, with protein tyrosine kinase activity GO:0004716 9.49 KDR KIT
6 vascular endothelial growth factor-activated receptor activity GO:0005021 9.46 FLT3 KDR
7 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.46 FGF1 FGFR1 KIT PDGFRB
8 protein tyrosine kinase activity GO:0004713 9.4 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2
9 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.35 FGFR1 FLT3 KDR KIT PDGFRB
10 protein binding GO:0005515 10.27 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2
11 transferase activity GO:0016740 10.05 BCR FGFR1 FLT3 KDR KIT PDGFRB
12 ATP binding GO:0005524 10.01 BCR FGFR1 FLT3 KDR KIT MYO18A

Sources for 8p11 Myeloproliferative Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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