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Atlas / Disease / myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

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Also known as myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2myeloid/lymphoid neoplasms with eosinophilia and gene rearrangementmyeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2

Summary

myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 (MONDO:0015688) is a disease with 1 cohort gene. Molecularly, FIP1L1::PDGFRA Fusion confers sensitivity to Imatinib in Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of PDGFRA, PDGFRB, And FGFR1 (CIViC Level A); 5 further subtype–drug associations are mapped below.

At a glance

  • Cohort genes: 1
  • Precision-medicine evidence (CIViC): 6 subtype–drug associations

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namemyeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
Mondo IDMONDO:0015688
Orphanet168943
DOIDDOID:0080164
NCITC84270
UMLSC2827356
MedGen417664
GARD0020105
Is cancer (heuristic)no

Also known as: myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 · myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 · myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2 · myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 · myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement · myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2

Disease family

An umbrella term covering 4 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › myeloid hemopathy › myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2

Related subtypes (3): myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative disease

Subtypes (4): myeloid neoplasm associated with FGFR1 rearrangement, myeloid neoplasm associated with PDGFRA rearrangement, myeloid neoplasm associated with PDGFRB rearrangement, myeloid/lymphoid neoplasm associated with JAK2 rearrangement

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
PDGFRAOrphanet:168940Chronic eosinophilic leukemia
PDGFRAOrphanet:168947Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
PDGFRAOrphanet:199306Cleft lip/palate
PDGFRAOrphanet:314950Primary hypereosinophilic syndrome
PDGFRAOrphanet:44890Gastrointestinal stromal tumor
PDGFRAOrphanet:585877B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
civic_only1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
PDGFRAHGNC:8803ENSG00000134853P16234Platelet-derived growth factor receptor alphacivic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
PDGFRAPlatelet-derived growth factor receptor alphaTyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Kinase127.7×0.036

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
PDGFRAKinaseyes2.7.10.1Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Tyr_kinase_rcpt_3_CS

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
decidua1
synovial joint1
tibia1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
PDGFRA289ubiquitousmarkertibia, decidua, synovial joint

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
PDGFRA5,186

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
PDGFRAP1623415

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 13. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Imatinib-resistant PDGFR mutants111420.0×2e-04PDGFRA
Sunitinib-resistant PDGFR mutants111420.0×2e-04PDGFRA
Regorafenib-resistant PDGFR mutants111420.0×2e-04PDGFRA
Sorafenib-resistant PDGFR mutants111420.0×2e-04PDGFRA
PDGFR mutants bind TKIs111420.0×2e-04PDGFRA
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants1878.5×0.002PDGFRA
Signaling by PDGFRA extracellular domain mutants1878.5×0.002PDGFRA
Downstream signal transduction1380.7×0.004PDGFRA
Signaling by PDGF1253.8×0.006PDGFRA
Constitutive Signaling by Aberrant PI3K in Cancer1126.9×0.010PDGFRA
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling196.8×0.012PDGFRA
PIP3 activates AKT signaling166.8×0.016PDGFRA
RAF/MAP kinase cascade161.1×0.016PDGFRA

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
platelet-derived growth factor receptor-alpha signaling pathway18426.0×0.003PDGFRA
positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway15617.3×0.003PDGFRA
metanephric glomerular capillary formation15617.3×0.003PDGFRA
regulation of mesenchymal stem cell differentiation14213.0×0.003PDGFRA
luteinization11872.4×0.003PDGFRA
negative regulation of platelet activation11872.4×0.003PDGFRA
cell activation11685.2×0.003PDGFRA
retina vasculature development in camera-type eye11685.2×0.003PDGFRA
cardiac myofibril assembly11296.3×0.004PDGFRA
Leydig cell differentiation11203.7×0.004PDGFRA
embryonic digestive tract morphogenesis1936.2×0.004PDGFRA
male genitalia development1887.0×0.004PDGFRA
white fat cell differentiation1842.6×0.004PDGFRA
positive regulation of chemotaxis1842.6×0.004PDGFRA
signal transduction involved in regulation of gene expression1702.2×0.004PDGFRA
adrenal gland development1674.1×0.004PDGFRA
estrogen metabolic process1624.1×0.004PDGFRA
embryonic cranial skeleton morphogenesis1581.1×0.004PDGFRA
platelet-derived growth factor receptor signaling pathway1561.7×0.004PDGFRA
face morphogenesis1495.6×0.004PDGFRA
peptidyl-tyrosine phosphorylation1421.3×0.005PDGFRA
positive regulation of calcium-mediated signaling1421.3×0.005PDGFRA
cellular response to reactive oxygen species1411.0×0.005PDGFRA
embryonic skeletal system morphogenesis1391.9×0.005PDGFRA
platelet aggregation1337.0×0.005PDGFRA
cellular response to amino acid stimulus1306.4×0.005PDGFRA
odontogenesis of dentin-containing tooth1300.9×0.005PDGFRA
positive regulation of fibroblast proliferation1295.6×0.005PDGFRA
roof of mouth development1247.8×0.006PDGFRA
hematopoietic progenitor cell differentiation1237.3×0.006PDGFRA

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
PDGFRAPONATINIB

Top cohort targets by molecule count

SymbolMoleculesMax phase
PDGFRA774

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
PONATINIB4PDGFRA
FEDRATINIB4PDGFRA
TIVOZANIB4PDGFRA
LENVATINIB4PDGFRA
AXITINIB4PDGFRA
SORAFENIB4PDGFRA
IMATINIB MESYLATE4PDGFRA
INFIGRATINIB PHOSPHATE4PDGFRA
INFIGRATINIB4PDGFRA
REGORAFENIB4PDGFRA
CERITINIB4PDGFRA
VANDETANIB4PDGFRA
NILOTINIB4PDGFRA
BOSUTINIB4PDGFRA
NINTEDANIB ESYLATE4PDGFRA
PEXIDARTINIB4PDGFRA
AVAPRITINIB4PDGFRA
RIPRETINIB4PDGFRA
PAZOPANIB4PDGFRA
NINTEDANIB4PDGFRA
SUNITINIB4PDGFRA
DASATINIB4PDGFRA
ERLOTINIB4PDGFRA
QUIZARTINIB4PDGFRA
MIDOSTAURIN4PDGFRA
IMATINIB4PDGFRA
VATALANIB3PDGFRA
MASITINIB3PDGFRA
CRENOLANIB3PDGFRA
SARACATINIB3PDGFRA

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
PDGFRA1,172Binding:1160, Functional:8, ADMET:4

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
PDGFRA2.7.10.1receptor protein-tyrosine kinase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
PDGFRA1,172

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
PONATINIB4PDGFRA
FEDRATINIB4PDGFRA
TIVOZANIB4PDGFRA
LENVATINIB4PDGFRA
AXITINIB4PDGFRA
SORAFENIB4PDGFRA
IMATINIB MESYLATE4PDGFRA
INFIGRATINIB PHOSPHATE4PDGFRA
INFIGRATINIB4PDGFRA
REGORAFENIB4PDGFRA
CERITINIB4PDGFRA
VANDETANIB4PDGFRA
NILOTINIB4PDGFRA
BOSUTINIB4PDGFRA
NINTEDANIB ESYLATE4PDGFRA
PEXIDARTINIB4PDGFRA
AVAPRITINIB4PDGFRA
RIPRETINIB4PDGFRA
PAZOPANIB4PDGFRA
NINTEDANIB4PDGFRA
SUNITINIB4PDGFRA
DASATINIB4PDGFRA
ERLOTINIB4PDGFRA
QUIZARTINIB4PDGFRA
MIDOSTAURIN4PDGFRA
IMATINIB4PDGFRA
VATALANIB3PDGFRA
MASITINIB3PDGFRA
CRENOLANIB3PDGFRA
SARACATINIB3PDGFRA

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1PDGFRA
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 6 predictive associations from 9 curated evidence items; also 1 diagnostic.

Molecular subtypeTherapyEffectLevelCIViC
FIP1L1::PDGFRA FusionImatinibSensitivity/ResponseCIViC AEID1445 +2
TNKS2::PDGFRA FusionImatinibSensitivity/ResponseCIViC CEID1838
FIP1L1::PDGFRA Fusion AND PDGFRA T674IImatinibResistanceCIViC CEID1446 +1
FIP1L1::PDGFRA FusionPonatinibSensitivity/ResponseCIViC DEID1777
FIP1L1::PDGFRA Fusion AND PDGFRA T674IPonatinibSensitivity/ResponseCIViC DEID1779
FIP1L1::PDGFRA Fusion AND PDGFRA T674IDasatinibResistanceCIViC DEID4420

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

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This page pulls from 70 datasets indexed by BioBTree:

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