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Atlas / Disease / Pilomyxoid astrocytoma

Pilomyxoid astrocytoma

disease
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Also known as PMA

Summary

Pilomyxoid astrocytoma (MONDO:0016692) is a disease with 1 cohort gene and 4 clinical trials. Top therapeutic interventions include bevacizumab and mebendazole.

At a glance

  • Cohort genes: 1
  • ClinVar variants: 2
  • Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namepilomyxoid astrocytoma
Mondo IDMONDO:0016692
Orphanet251615
DOIDDOID:4845
NCITC40315
UMLSC1519086
MedGen276757
GARD0020710
Is cancer (heuristic)no

Also known as: PMA

Data availability: 2 ClinVar variants.

Disease family

Classification path: cancer or benign tumor › neoplastic disease or syndrome › neoplasm › nervous system neoplasm › neuroepithelial neoplasm › glioma › astrocytic tumor › astrocytoma (excluding glioblastoma) › low-grade astrocytoma › pilocytic astrocytoma › pilomyxoid astrocytoma

Related subtypes (3): cerebellar pilocytic astrocytoma, childhood pilocytic astrocytoma, pilocytic astrocytoma with histological features of anaplasia

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

ClinVar germline variants

2 retrieved; paginated sample, class counts are floors:

1 uncertain significance, 1 pathogenic

ClinVarVariant (HGVS)GeneClassificationReview
224897NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)FGFR1Pathogeniccriteria provided, single submitter
1344828NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys)FGFR1Uncertain significancecriteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 17 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
FGFR1Orphanet:168953Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
FGFR1Orphanet:2117Hartsfield syndrome
FGFR1Orphanet:220386Semilobar holoprosencephaly
FGFR1Orphanet:2396Encephalocraniocutaneous lipomatosis
FGFR1Orphanet:251576Gliosarcoma
FGFR1Orphanet:251579Giant cell glioblastoma
FGFR1Orphanet:251615Pilomyxoid astrocytoma
FGFR1Orphanet:2645Osteoglosphonic dysplasia
FGFR1Orphanet:280200Microform holoprosencephaly
FGFR1Orphanet:314950Primary hypereosinophilic syndrome
FGFR1Orphanet:3157Septo-optic dysplasia spectrum
FGFR1Orphanet:3366Non-syndromic metopic craniosynostosis
FGFR1Orphanet:432Normosmic congenital hypogonadotropic hypogonadism
FGFR1Orphanet:478Kallmann syndrome
FGFR1Orphanet:93258Pfeiffer syndrome type 1
FGFR1Orphanet:93924Lobar holoprosencephaly
FGFR1Orphanet:99798Oligodontia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
FGFR1HGNC:3688ENSG00000077782P11362Fibroblast growth factor receptor 1clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
FGFR1Fibroblast growth factor receptor 1Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration.

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)
FGFR1Kinaseyes2.7.10.1Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Ig_sub2

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
buccal mucosa cell1
calcaneal tendon1
stromal cell of endometrium1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
FGFR1292ubiquitousmarkerbuccal mucosa cell, stromal cell of endometrium, calcaneal tendon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
FGFR15,693

Structural data

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

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
FGFR1P1136283

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 22. 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
Signaling by FGFR1 amplification mutants15710.0×0.003FGFR1
FGFR1c and Klotho ligand binding and activation12855.0×0.003FGFR1
Signaling by plasma membrane FGFR1 fusions12855.0×0.003FGFR1
Epithelial-Mesenchymal Transition (EMT) during gastrulation11427.5×0.003FGFR1
FGFR1b ligand binding and activation11268.9×0.003FGFR1
Signaling by activated point mutants of FGFR11951.7×0.004FGFR1
FGFR1c ligand binding and activation1761.3×0.004FGFR1
Phospholipase C-mediated cascade: FGFR11671.8×0.004FGFR1
Downstream signaling of activated FGFR11543.8×0.004FGFR1
Signal transduction by L11519.1×0.004FGFR1
PI-3K cascade:FGFR11519.1×0.004FGFR1
SHC-mediated cascade:FGFR11496.5×0.004FGFR1
FRS-mediated FGFR1 signaling1456.8×0.004FGFR1
Formation of paraxial mesoderm1407.9×0.004FGFR1
Negative regulation of FGFR1 signaling1368.4×0.004FGFR1
Signaling by FGFR1 in disease1292.8×0.004FGFR1
PI3K Cascade1271.9×0.004FGFR1
NCAM signaling for neurite out-growth1271.9×0.004FGFR1
Constitutive Signaling by Aberrant PI3K in Cancer1126.9×0.009FGFR1
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling196.8×0.011FGFR1
PIP3 activates AKT signaling166.8×0.016FGFR1
RAF/MAP kinase cascade161.1×0.016FGFR1

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
vitamin D3 metabolic process18426.0×0.002FGFR1
positive regulation of mitotic cell cycle DNA replication18426.0×0.002FGFR1
positive regulation of parathyroid hormone secretion18426.0×0.002FGFR1
regulation of extrinsic apoptotic signaling pathway in absence of ligand18426.0×0.002FGFR1
regulation of phosphate transport15617.3×0.002FGFR1
fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development15617.3×0.002FGFR1
regulation of lateral mesodermal cell fate specification15617.3×0.002FGFR1
ventricular zone neuroblast division14213.0×0.002FGFR1
negative regulation of fibroblast growth factor production14213.0×0.002FGFR1
positive regulation of phospholipase activity13370.4×0.002FGFR1
regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling13370.4×0.002FGFR1
diphosphate metabolic process13370.4×0.002FGFR1
chordate embryonic development12808.7×0.002FGFR1
positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway12808.7×0.002FGFR1
cementum mineralization12407.4×0.002FGFR1
auditory receptor cell development11872.4×0.002FGFR1
paraxial mesoderm development11685.2×0.002FGFR1
lung-associated mesenchyme development11685.2×0.002FGFR1
response to sodium phosphate11685.2×0.002FGFR1
outer ear morphogenesis11532.0×0.002FGFR1
branching involved in salivary gland morphogenesis11404.3×0.002FGFR1
organ induction11203.7×0.003FGFR1
mesenchymal cell proliferation11123.5×0.003FGFR1
positive regulation of endothelial cell chemotaxis1991.3×0.003FGFR1
cell projection assembly1936.2×0.003FGFR1
regulation of postsynaptic density assembly1887.0×0.003FGFR1
positive regulation of vascular endothelial cell proliferation1842.6×0.003FGFR1
middle ear morphogenesis1702.2×0.003FGFR1
phosphatidylinositol-mediated signaling1702.2×0.003FGFR1
positive regulation of MAP kinase activity1648.1×0.003FGFR1

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
FGFR1PONATINIB

Top cohort targets by molecule count

SymbolMoleculesMax phase
FGFR1934

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
PONATINIB4FGFR1
PEMIGATINIB4FGFR1
NINTEDANIB4FGFR1
FEDRATINIB4FGFR1
TIVOZANIB4FGFR1
LENVATINIB4FGFR1
AXITINIB4FGFR1
SORAFENIB4FGFR1
NICLOSAMIDE4FGFR1
INFIGRATINIB PHOSPHATE4FGFR1
INFIGRATINIB4FGFR1
REGORAFENIB4FGFR1
ENTRECTINIB4FGFR1
CABOZANTINIB4FGFR1
CAPIVASERTIB4FGFR1
VANDETANIB4FGFR1
NINTEDANIB ESYLATE4FGFR1
BRIGATINIB4FGFR1
ERDAFITINIB4FGFR1
UPADACITINIB4FGFR1
FUTIBATINIB4FGFR1
PAZOPANIB4FGFR1
SUNITINIB4FGFR1
DASATINIB4FGFR1
MIDOSTAURIN4FGFR1
LINIFANIB3FGFR1
SEMAXANIB3FGFR1
OLVEREMBATINIB3FGFR1
BRIVANIB ALANINATE3FGFR1
ORANTINIB3FGFR1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

SymbolAssaysType breakdown
FGFR11,465Binding:1428, Functional:24, ADMET:13

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
FGFR12.7.10.1receptor protein-tyrosine kinase

Cohort genes with high screening signal

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

SymbolChEMBL assays
FGFR11,465

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)
PONATINIB4FGFR1
PEMIGATINIB4FGFR1
NINTEDANIB4FGFR1
FEDRATINIB4FGFR1
TIVOZANIB4FGFR1
LENVATINIB4FGFR1
AXITINIB4FGFR1
SORAFENIB4FGFR1
NICLOSAMIDE4FGFR1
INFIGRATINIB PHOSPHATE4FGFR1
INFIGRATINIB4FGFR1
REGORAFENIB4FGFR1
ENTRECTINIB4FGFR1
CABOZANTINIB4FGFR1
CAPIVASERTIB4FGFR1
VANDETANIB4FGFR1
NINTEDANIB ESYLATE4FGFR1
BRIGATINIB4FGFR1
ERDAFITINIB4FGFR1
UPADACITINIB4FGFR1
FUTIBATINIB4FGFR1
PAZOPANIB4FGFR1
SUNITINIB4FGFR1
DASATINIB4FGFR1
MIDOSTAURIN4FGFR1
LINIFANIB3FGFR1
SEMAXANIB3FGFR1
OLVEREMBATINIB3FGFR1
BRIVANIB ALANINATE3FGFR1
ORANTINIB3FGFR1

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1FGFR1
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: 4.

Phase distribution (across all retrieved trials)

PhaseTrials
PHASE1/PHASE22
Not specified2

Top trials by phase / activity

NCTPhaseStatusTitle
NCT01837862PHASE1/PHASE2COMPLETEDA Phase I Study of Mebendazole for the Treatment of Pediatric Gliomas
NCT01884740PHASE1/PHASE2TERMINATEDIntraarterial Infusion Of Erbitux and Bevacizumab For Relapsed/Refractory Intracranial Glioma In Patients Under 22
NCT04065776Not specifiedRECRUITINGEvaluation of Hippocampal-Avoidance Using Proton Therapy in Low-Grade Glioma
NCT05271435Not specifiedACTIVE_NOT_RECRUITINGDigital Tools for Assessment of Motor Functions and Falls in ALS

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
BEVACIZUMAB42
MEBENDAZOLE41

About this page

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

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 70

This page pulls from 70 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot