MCID: MYL060
MIFTS: 32

Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement

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

Aliases & Classifications for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

MalaCards integrated aliases for Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement:

Name: Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement 12 15
Myeloid/lymphoid Neoplasm Associated with Pdgfra Rearrangement 58
Myeloid and Lymphoid Neoplasms with Pdgfra Rearrangement 12

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0080165
NCIt 49 C84275
ICD10 via Orphanet 33 D47.1
Orphanet 58 ORPHA168947

Summaries for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

Disease Ontology : 12 A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts.

MalaCards based summary : Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement, also known as myeloid/lymphoid neoplasm associated with pdgfra rearrangement, is related to pdgfra-associated chronic eosinophilic leukemia and loeffler endocarditis. An important gene associated with Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement is PDGFRA (Platelet Derived Growth Factor Receptor Alpha), and among its related pathways/superpathways are ERK Signaling and PEDF Induced Signaling. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

Diseases related to Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 pdgfra-associated chronic eosinophilic leukemia 10.4 PDGFRA FIP1L1
2 loeffler endocarditis 10.4 PDGFRA FIP1L1
3 cerebellar angioblastoma 10.3 PDGFRA ETV6
4 myeloproliferative disorder, chronic, with eosinophilia 10.3 PDGFRB ETV6
5 reticular perineurioma 10.2 PDGFRA KIT
6 perineurioma 10.2 PDGFRA KIT
7 deep leiomyoma 10.2 PDGFRA KIT
8 heart leiomyosarcoma 10.2 PDGFRA KIT
9 small intestine leiomyoma 10.2 PDGFRA KIT
10 gastric leiomyoma 10.2 PDGFRA KIT
11 disseminated eosinophilic collagen disease 10.2 PDGFRA FIP1L1 CHIC2
12 pulmonary vein stenosis 10.2 PDGFRA KIT
13 gastric leiomyosarcoma 10.2 PDGFRA KIT
14 extracutaneous mastocytoma 10.2 KIT FIP1L1
15 endometrial small cell carcinoma 10.2 PDGFRA KIT
16 fibrosarcoma of bone 10.2 PDGFRA KIT
17 testicular leukemia 10.2 ETV6 ABL1
18 undifferentiated pleomorphic sarcoma 10.2 PDGFRA KIT
19 mast-cell sarcoma 10.2 KIT FIP1L1
20 uterus leiomyosarcoma 10.2 PDGFRA KIT
21 conventional fibrosarcoma 10.2 PDGFRA KIT
22 carney triad 10.1 PDGFRA KIT
23 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.1 KIT ETV6
24 neurofibromatosis, type i 10.1 PDGFRA KIT
25 sarcomatoid renal cell carcinoma 10.1 PDGFRA KIT
26 chondroma 10.1 PDGFRA KIT
27 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of pdgfra, pdgfrb, and fgfr1 10.1 PDGFRB PDGFRA FGFR1
28 adult mesoblastic nephroma 10.1 KIT ETV6
29 leukemia, acute lymphoblastic 3 10.0 PDGFRA ETV6 ABL1
30 aggressive systemic mastocytosis 10.0 PDGFRA KIT FIP1L1
31 mastocytosis, cutaneous 10.0 PDGFRA KIT FIP1L1
32 pleomorphic liposarcoma 10.0 PDGFRA KIT
33 mesenchymal cell neoplasm 10.0 PDGFRB PDGFRA KIT
34 desmoid tumor 10.0 PDGFRB PDGFRA KIT
35 ocular melanoma 10.0 PDGFRB PDGFRA KIT
36 neurilemmoma 10.0 PDGFRB PDGFRA KIT
37 indolent systemic mastocytosis 10.0 KIT FIP1L1
38 endomyocardial fibrosis 9.9 PDGFRB PDGFRA FIP1L1 CHIC2
39 leiomyosarcoma 9.9 PDGFRB PDGFRA KIT
40 retinitis pigmentosa and erythrocytic microcytosis 9.9 JAK2 EPO
41 budd-chiari syndrome 9.9 PDGFRA JAK2 FIP1L1
42 acquired polycythemia 9.9 JAK2 EPO
43 core binding factor acute myeloid leukemia 9.9 KIT JAK2
44 malignant peripheral nerve sheath tumor 9.9 PDGFRB PDGFRA KIT
45 congenital mesoblastic nephroma 9.9 KIT ETV6
46 8p11 myeloproliferative syndrome 9.9 PDGFRB KIT FGFR1
47 infantile myofibromatosis 9.9 PDGFRB ETV6
48 endometrial stromal sarcoma 9.8 PDGFRB PDGFRA KIT
49 salivary gland carcinoma 9.8 KIT FGFR1 ETV6
50 splenomegaly 9.8 JAK2 EPO

Graphical network of the top 20 diseases related to Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement:



Diseases related to Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement

Symptoms & Phenotypes for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

GenomeRNAi Phenotypes related to Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.02 PDGFRA
2 Decreased viability GR00221-A-1 10.02 ABL1 FGFR1 KIT PDGFRA PDGFRB
3 Decreased viability GR00221-A-2 10.02 ABL1 FGFR1
4 Decreased viability GR00221-A-3 10.02 ABL1 PDGFRA PDGFRB
5 Decreased viability GR00221-A-4 10.02 PDGFRA PDGFRB
6 Decreased viability GR00301-A 10.02 KIT
7 Decreased viability GR00342-S-1 10.02 ABL1 PDGFRB
8 Decreased viability GR00342-S-2 10.02 ABL1
9 Decreased viability GR00342-S-3 10.02 ABL1
10 Decreased viability GR00402-S-2 10.02 ABL1 FGFR1 KIT PDGFRA PDGFRB
11 Decreased substrate adherent cell growth GR00193-A-1 9.97 KIT
12 Decreased substrate adherent cell growth GR00193-A-2 9.97 ABL1 JAK2 KIT
13 Decreased substrate adherent cell growth GR00193-A-3 9.97 JAK2
14 Decreased substrate adherent cell growth GR00193-A-4 9.97 ABL1 KIT FGFR1
15 Increased cell viability after pRB stimulation GR00230-A-1 8.8 ABL1 KIT PDGFRB

MGI Mouse Phenotypes related to Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 ABL1 CSF2 EPO ETV6 FGFR1 JAK2
2 cellular MP:0005384 10.2 ABL1 CSF2 EPO ETV6 FGFR1 JAK2
3 embryo MP:0005380 10.16 ABL1 CSF2 EPO ETV6 FGFR1 JAK2
4 hematopoietic system MP:0005397 10.13 ABL1 CSF2 EPO ETV6 FGFR1 JAK2
5 homeostasis/metabolism MP:0005376 10.11 ABL1 CSF2 EPO ETV6 FGFR1 JAK2
6 endocrine/exocrine gland MP:0005379 10.1 ABL1 CSF2 ETV6 FGFR1 JAK2 KIT
7 integument MP:0010771 10.1 CHIC2 CSF2 EPO ETV6 FGFR1 JAK2
8 immune system MP:0005387 10.09 ABL1 CSF2 EPO ETV6 FGFR1 JAK2
9 mortality/aging MP:0010768 10.07 ABL1 CHIC2 CSF2 EPO ETV6 FGFR1
10 craniofacial MP:0005382 10.01 ABL1 CSF2 FGFR1 KIT PDGFRA PDGFRB
11 digestive/alimentary MP:0005381 10 ABL1 ETV6 FGFR1 KIT PDGFRA PDGFRB
12 muscle MP:0005369 9.8 ABL1 EPO FGFR1 KIT PDGFRA PDGFRB
13 normal MP:0002873 9.76 ABL1 EPO ETV6 FGFR1 JAK2 KIT
14 neoplasm MP:0002006 9.65 CSF2 ETV6 JAK2 KIT PDGFRA
15 respiratory system MP:0005388 9.43 ABL1 CSF2 EPO JAK2 KIT PDGFRA
16 skeleton MP:0005390 9.23 ABL1 CSF2 EPO FGFR1 JAK2 KIT

Drugs & Therapeutics for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

Search Clinical Trials , NIH Clinical Center for Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement

Genetic Tests for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

Anatomical Context for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

MalaCards organs/tissues related to Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement:

40
Myeloid, Bone, Bone Marrow, Heart, Small Intestine, Salivary Gland, Breast

Publications for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

Variations for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

Expression for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

Search GEO for disease gene expression data for Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement.

Pathways for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

Pathways related to Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement according to GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 PDGFRB PDGFRA KIT JAK2 FGFR1 CSF2
2
Show member pathways
13.5 PDGFRB PDGFRA KIT JAK2 FGFR1 EPO
3
Show member pathways
13.38 PDGFRB PDGFRA KIT JAK2 FGFR1 EPO
4
Show member pathways
13.29 PDGFRB PDGFRA KIT JAK2 FGFR1 CSF2
5
Show member pathways
13.24 PDGFRB PDGFRA KIT JAK2 FGFR1 CSF2
6
Show member pathways
13.17 PDGFRB PDGFRA KIT JAK2 FGFR1 CSF2
7
Show member pathways
13.1 PDGFRB PDGFRA KIT JAK2 FGFR1 CSF2
8
Show member pathways
12.88 PDGFRB PDGFRA KIT JAK2 FGFR1
9
Show member pathways
12.8 PDGFRB PDGFRA KIT FGFR1
10
Show member pathways
12.72 PDGFRB PDGFRA KIT JAK2 FGFR1 EPO
11 12.62 PDGFRB PDGFRA KIT FGFR1
12
Show member pathways
12.62 PDGFRB PDGFRA KIT JAK2 EPO
13
Show member pathways
12.59 PDGFRB PDGFRA KIT FGFR1 CSF2 ABL1
14
Show member pathways
12.58 PDGFRB PDGFRA KIT FGFR1
15
Show member pathways
12.55 PDGFRB PDGFRA KIT FGFR1 ABL1
16
Show member pathways
12.46 PDGFRB PDGFRA JAK2 ABL1
17
Show member pathways
12.26 PDGFRB PDGFRA KIT FGFR1
18 12.22 PDGFRB PDGFRA KIT JAK2 FGFR1 EPO
19
Show member pathways
12.04 PDGFRB PDGFRA KIT FGFR1 ABL1
20
Show member pathways
12.03 KIT JAK2 EPO
21
Show member pathways
12.02 PDGFRB PDGFRA JAK2 EPO CSF2
22 11.87 KIT EPO CSF2
23 11.76 JAK2 EPO ABL1
24 11.76 KIT EPO CSF2
25 11.7 PDGFRB PDGFRA FGFR1
26
Show member pathways
11.66 PDGFRB KIT FGFR1
27 11.46 PDGFRB PDGFRA KIT FGFR1
28 11.35 PDGFRB PDGFRA FGFR1
29 11.3 PDGFRB PDGFRA FGFR1
30 11.27 PDGFRB PDGFRA KIT JAK2 FGFR1 ABL1
31
Show member pathways
11.18 PDGFRB PDGFRA KIT
32
Show member pathways
11.17 PDGFRB PDGFRA KIT ABL1
33 11.02 PDGFRB PDGFRA
34 10.85 PDGFRB PDGFRA KIT FGFR1 CSF2
35 10.77 PDGFRB PDGFRA

GO Terms for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

Cellular components related to Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.92 PDGFRB PDGFRA KIT FGFR1

Biological processes related to Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.97 PDGFRB PDGFRA KIT JAK2 FGFR1 ABL1
2 positive regulation of cell proliferation GO:0008284 9.95 PDGFRB PDGFRA KIT JAK2 FGFR1 EPO
3 protein phosphorylation GO:0006468 9.93 PDGFRB PDGFRA KIT JAK2 FGFR1 ABL1
4 positive regulation of cell migration GO:0030335 9.92 PDGFRB PDGFRA KIT JAK2
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.89 PDGFRB PDGFRA EPO ABL1
6 regulation of cell proliferation GO:0042127 9.88 KIT FGFR1 CSF2 ABL1
7 positive regulation of protein kinase B signaling GO:0051897 9.85 PDGFRB PDGFRA KIT FGFR1
8 positive regulation of cytosolic calcium ion concentration GO:0007204 9.83 PDGFRA JAK2 ABL1
9 cell chemotaxis GO:0060326 9.81 PDGFRB PDGFRA KIT
10 MAPK cascade GO:0000165 9.8 PDGFRB PDGFRA KIT JAK2 FGFR1 CSF2
11 hematopoietic progenitor cell differentiation GO:0002244 9.79 PDGFRB PDGFRA KIT
12 positive regulation of MAP kinase activity GO:0043406 9.78 PDGFRB KIT FGFR1
13 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.78 PDGFRB PDGFRA KIT FGFR1
14 phosphatidylinositol-mediated signaling GO:0048015 9.76 PDGFRB PDGFRA FGFR1
15 erythrocyte differentiation GO:0030218 9.73 KIT JAK2 EPO
16 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.73 KIT JAK2 EPO CSF2
17 protein autophosphorylation GO:0046777 9.73 PDGFRB PDGFRA KIT JAK2 FGFR1 ABL1
18 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.69 PDGFRB PDGFRA KIT
19 platelet-derived growth factor receptor signaling pathway GO:0048008 9.67 PDGFRB PDGFRA JAK2 ABL1
20 positive regulation of Ras protein signal transduction GO:0046579 9.66 JAK2 EPO
21 regulation of actin cytoskeleton reorganization GO:2000249 9.65 PDGFRA ABL1
22 response to hyperoxia GO:0055093 9.65 PDGFRB EPO
23 cardiac myofibril assembly GO:0055003 9.65 PDGFRB PDGFRA
24 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.64 PDGFRB JAK2
25 negative regulation of cell-cell adhesion GO:0022408 9.64 JAK2 ABL1
26 response to fluid shear stress GO:0034405 9.63 PDGFRB CSF2
27 retina vasculature development in camera-type eye GO:0061298 9.62 PDGFRB PDGFRA
28 platelet-derived growth factor receptor-beta signaling pathway GO:0035791 9.6 PDGFRB ABL1
29 erythropoietin-mediated signaling pathway GO:0038162 9.57 KIT EPO
30 metanephric glomerular capillary formation GO:0072277 9.54 PDGFRB PDGFRA
31 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.52 PDGFRB PDGFRA
32 positive regulation of phospholipase C activity GO:0010863 9.46 PDGFRB PDGFRA KIT FGFR1
33 peptidyl-tyrosine phosphorylation GO:0018108 9.43 PDGFRB PDGFRA KIT JAK2 FGFR1 ABL1
34 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.1 PDGFRB PDGFRA KIT JAK2 FGFR1 EPO

Molecular functions related to Myeloid and Lymphoid Neoplasms Associated with Pdgfra Rearrangement according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.27 RARS1 PDGFRB PDGFRA KIT JAK2 FIP1L1
2 transferase activity GO:0016740 10 PDGFRB PDGFRA KIT JAK2 FGFR1 ABL1
3 ATP binding GO:0005524 9.95 RARS1 PDGFRB PDGFRA KIT JAK2 FGFR1
4 kinase activity GO:0016301 9.85 PDGFRB PDGFRA KIT JAK2 FGFR1 ABL1
5 protein kinase activity GO:0004672 9.8 PDGFRB PDGFRA KIT JAK2 FGFR1 ABL1
6 nucleotide binding GO:0000166 9.73 RARS1 PDGFRB PDGFRA KIT JAK2 FGFR1
7 phosphatidylinositol 3-kinase binding GO:0043548 9.51 PDGFRB JAK2
8 platelet-derived growth factor receptor binding GO:0005161 9.48 PDGFRB PDGFRA
9 platelet-derived growth factor binding GO:0048407 9.46 PDGFRB PDGFRA
10 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.46 PDGFRB PDGFRA KIT FGFR1
11 vascular endothelial growth factor binding GO:0038085 9.43 PDGFRB PDGFRA
12 SH2 domain binding GO:0042169 9.26 KIT JAK2 FGFR1 ABL1
13 protein tyrosine kinase activity GO:0004713 9.1 PDGFRB PDGFRA KIT JAK2 FGFR1 ABL1

Sources for Myeloid and Lymphoid Neoplasms Associated with Pdgfra...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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48 NCI
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50 NDF-RT
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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