MCID: 8P1002
MIFTS: 35

8p11 Myeloproliferative Syndrome

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

Aliases & Classifications for 8p11 Myeloproliferative Syndrome

MalaCards integrated aliases for 8p11 Myeloproliferative Syndrome:

Name: 8p11 Myeloproliferative Syndrome 25
Myeloid and Lymphoid Neoplasms with Fgfr1 Abnormalities 25
Myeloid and Lymphoid Neoplasms with Fgfr1 Rearrangement 69
Chromosome 8p11 Myeloproliferative Syndrome 69
8p11 Stem Cell Leukemia/lymphoma Syndrome 25
Stem Cell Leukemia/lymphoma 25
8p11 Stem Cell Syndrome 25

Classifications:



Summaries for 8p11 Myeloproliferative Syndrome

Genetics Home Reference : 25 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 myeloid and lymphoid neoplasm with fgfr1 abnormalities. 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 hematopoietic system

Related Diseases for 8p11 Myeloproliferative Syndrome

Diseases in the 8p11 Myeloproliferative Syndrome family:

Myeloproliferative Syndrome, Transient

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

(show all 44)
id Related Disease Score Top Affiliating Genes
1 chromosome 8p11 myeloproliferative syndrome 12.4
2 myeloid and lymphoid neoplasm with fgfr1 abnormalities 11.1
3 fetal hemoglobin quantitative trait locus 4 10.8 FGFR1 SCLL
4 primary bone lymphoma 10.6 FGFR1 PDGFRB
5 myeloid neoplasms associated with pdgfrb rearrangement 10.6 FGFR1 PDGFRB
6 acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) 10.6 FLT3 KIT
7 wilms tumor 6 10.5 KIT PDGFRB
8 desmoplastic small round cell tumor 10.4 KIT PDGFRB
9 fetal nicotine spectrum disorder 10.4 FGFR1 PDGFRB RUNX1
10 acute pre-b-cell lymphoblastic leukemia 10.4 FLT3 KIT
11 temporal lobe epilepsy 10.3 FGFR1 KIT PDGFRB
12 col12a1-related muscle diseases 10.3 BCR RUNX1
13 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 10.3 FLT3 KIT RUNX1
14 18p deletion syndrome 10.3 FGFR1 KIT PDGFRB
15 acute necrotizing encephalopathy 10.3 FLT3 KIT RUNX1
16 dyserythropoietic anemia and thrombocytopenia 10.3 FLT3 KIT RUNX1
17 lymphoma, small cleaved-cell, diffuse 10.2 BCR RUNX1
18 extraosseous osteosarcoma 10.2 KDR KIT PDGFRB
19 mitral valve stenosis 10.2 KDR KIT PDGFRB
20 punctate palmoplantar keratoderma type 2 10.2 KDR KIT
21 leukemia 10.2
22 thrombocythemia 3 10.1 FLT3 KIT PDGFRB
23 focal epilepsy 10.1 BCR FGFR1 PDGFRB
24 lymphoma 10.1
25 alopecia antibody deficiency 10.0 FGFR1 FLT3 KIT PDGFRB
26 preeclampsia/eclampsia 3 10.0 BCR FLT3 RUNX1
27 nephronophthisis 15 9.9 FLT3 PDGFRB RUNX1
28 acute lymphoblastic leukemia, childhood 9.9 FLT3 KIT RUNX1
29 idiopathic syringomyelia 9.9 BCR FLT3
30 acute leukemia 9.9
31 lymphoblastic lymphoma 9.9
32 lymphoblastic leukemia 9.9
33 myeloid leukemia 9.9
34 chronic venous leg ulcers 9.9 FLT3 KIT PDGFRB RUNX1
35 alcohol-induced mental disorder 9.9 KDR KIT
36 leukemia, acute myeloid 9.8 FLT3 KIT PDGFRB RUNX1
37 myelofibrosis with myeloid metaplasia, somatic 9.8 BCR FLT3 KIT
38 gastrointestinal stromal tumor 9.7 FLT3 KIT PDGFRB
39 cheek mucosa cancer 9.7 BCR FLT3 KIT RUNX1
40 peroxisome biogenesis disorder 7a 9.4 BCR FLT3 KIT PDGFRB RUNX1
41 hemolytic anemia 9.4 BCR FLT3 KIT PDGFRB RUNX1
42 cranioectodermal dysplasia 1 9.3 BCR FGFR1 FLT3 KIT RUNX1 ZMYM2
43 nelson syndrome 8.4 BCR FGFR1 FGFR1OP FLT3 KIT PDGFRB
44 cask-related intellectual disability 4.8 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2

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:

26
id 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 TPR TRIM24 KDR BCR KIT
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 KDR KIT FGFR1 PDGFRB FLT3
31 Decreased viability GR00221-A-2 9.83 KDR FGFR1
32 Decreased viability GR00221-A-3 9.83 KDR PDGFRB
33 Decreased viability GR00221-A-4 9.83 KDR PDGFRB FLT3
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 KDR KIT FGFR1 FLT3
39 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.56 FLT3 KDR FGFR1 PDGFRB

MGI Mouse Phenotypes related to 8p11 Myeloproliferative Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.96 KIT NSMAF BCR PDGFRB FGF1 RUNX1
2 homeostasis/metabolism MP:0005376 9.9 KIT NSMAF BCR PDGFRB FGF1 RUNX1
3 mortality/aging MP:0010768 9.7 KDR KIT MYO18A BCR PDGFRB RUNX1
4 vision/eye MP:0005391 9.17 KDR KIT MYO18A PDGFRB CNTRL FGFR1

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:

39
Myeloid, B Cells, Bone, Bone Marrow

Publications for 8p11 Myeloproliferative Syndrome

Articles related to 8p11 Myeloproliferative Syndrome:

(show all 34)
id 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: diagnostic challenges and pitfalls. ( 27569099 )
2016
3
Diagnostic application of next-generation sequencing in ZMYM2-FGFR1 8p11 myeloproliferative syndrome: A case report. ( 27415155 )
2016
4
8p11 Myeloproliferative Syndrome with t(7;8) Translocation Presenting as Acute Myeloid Leukemia: A Case Report and Literature Review. ( 27188774 )
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
Ponatinib as targeted therapy for FGFR1 fusions associated with the 8p11 myeloproliferative syndrome. ( 22875613 )
2013
10
Quantitative polymerase chain reaction detection of CEP110-FGFR1 fusion gene in a patient with 8p11 myeloproliferative syndrome. ( 23327291 )
2013
11
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
12
A novel t(1;8)(q25;p11.2) translocation associated with 8p11 myeloproliferative syndrome. ( 21848523 )
2012
13
Identification of a novel partner gene, TPR, fused to FGFR1 in 8p11 myeloproliferative syndrome. ( 22619110 )
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
Biphenotypic hematologic malignancy: a case report of the 8p11 myeloproliferative syndrome in a child. ( 20562652 )
2010
18
Complete molecular remission after interferon alpha treatment in a case of 8p11 myeloproliferative syndrome. ( 20650528 )
2010
19
8p11 myeloproliferative syndrome: a review. ( 20226962 )
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
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
22
Molecular monitoring of 8p11 myeloproliferative syndrome in an infant. ( 19829149 )
2009
23
LRRFIP1, a new FGFR1 partner gene associated with 8p11 myeloproliferative syndrome. ( 19369959 )
2009
24
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
25
The 8p11 myeloproliferative syndrome: review of literature and an illustrative case report. ( 18787627 )
2008
26
The 8p11 myeloproliferative syndrome in a 3-year-old child. ( 17555813 )
2008
27
Activity of TKI258 against primary cells and cell lines with FGFR1 fusion genes associated with the 8p11 myeloproliferative syndrome. ( 17698633 )
2007
28
Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome. ( 17394134 )
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 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2
2
Show member pathways
13.14 FGF1 FGFR1 FLT3 KDR KIT PDGFRB
3
Show member pathways
13.07 FGF1 FGFR1 FLT3 KDR KIT PDGFRB
4
Show member pathways
12.8 FGFR1 FLT3 KDR KIT PDGFRB
5
Show member pathways
12.55 FGF1 FGFR1 KDR KIT PDGFRB
6 12.47 FGF1 FGFR1 KDR KIT PDGFRB
7 12.46 BCR FGF1 FGFR1 FLT3 KIT PDGFRB
8
Show member pathways
12.36 FGF1 FGFR1 FLT3 KDR KIT PDGFRB
9
Show member pathways
12.29 FGFR1 KDR PDGFRB TRIM24
10
Show member pathways
12.05 FGFR1 FGFR1OP FGFR1OP2 KDR
11 11.86 KDR PDGFRB RUNX1
12 11.85 BCR FGF1 FGFR1 FLT3 KDR KIT
13
Show member pathways
11.81 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2
14 11.72 FGF1 FGFR1 KDR PDGFRB
15
Show member pathways
11.64 FGFR1 FLT3 KDR KIT PDGFRB
16
Show member pathways
11.61 BCR KDR KIT PDGFRB
17 11.55 FGFR1 FLT3 KIT PDGFRB
18
Show member pathways
11.24 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2

GO Terms for 8p11 Myeloproliferative Syndrome

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

id 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 23)
id 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 9.89 FGF1 FGFR1 KIT PDGFRB
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.84 FLT3 KDR KIT PDGFRB
5 positive regulation of cell migration GO:0030335 9.83 FGF1 FGFR1OP KDR KIT PDGFRB
6 phosphatidylinositol-mediated signaling GO:0048015 9.81 FGF1 FGFR1 KIT PDGFRB
7 phosphatidylinositol phosphorylation GO:0046854 9.8 FGF1 FGFR1 KIT PDGFRB
8 positive regulation of angiogenesis GO:0045766 9.79 FGF1 KDR RUNX1
9 positive regulation of MAPK cascade GO:0043410 9.78 FGFR1 FLT3 KDR KIT
10 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.76 FGF1 FGFR1 KIT PDGFRB
11 hemopoiesis GO:0030097 9.75 FLT3 KIT RUNX1
12 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.7 FLT3 KIT PDGFRB
13 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.65 FGFR1 FLT3 KDR KIT PDGFRB
14 embryonic hemopoiesis GO:0035162 9.61 KDR KIT
15 organ induction GO:0001759 9.58 FGF1 FGFR1
16 vascular endothelial growth factor signaling pathway GO:0038084 9.57 FLT3 KDR
17 myeloid progenitor cell differentiation GO:0002318 9.56 FLT3 KIT
18 positive regulation of MAP kinase activity GO:0043406 9.55 FGF1 FGFR1 FLT3 KIT PDGFRB
19 positive regulation of phospholipase C activity GO:0010863 9.5 FGFR1 KIT PDGFRB
20 protein autophosphorylation GO:0046777 9.5 BCR FGFR1 FLT3 KDR KIT PDGFRB
21 peptidyl-tyrosine phosphorylation GO:0018108 9.4 BCR CNTRL FGF1 FGFR1 FGFR1OP FGFR1OP2
22 phosphorylation GO:0016310 10.02 BCR FGFR1 FLT3 KDR KIT PDGFRB
23 positive regulation of GTPase activity GO:0043547 10 BCR FGF1 FGFR1 KIT PDGFRB

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

(show all 12)
id 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 9.8 FGFR1 FLT3 KDR KIT PDGFRB TRIM24
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.56 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....