◎ Sugi Atlas

Atlas / Disease / Pancreatic insulin-producing neuroendocrine tumor

Pancreatic insulin-producing neuroendocrine tumor

disease
On this page

Also known as beta cell neoplasmBeta cell tumorBeta cell tumor of pancreasBeta cell tumor of the pancreasBeta cell tumourBeta cell tumour of pancreasBeta cell tumour of the pancreasinsulin-producing islet cell tumorinsulin-producing islet cell tumourinsulin-producing tumor of islet cellsinsulin-producing tumor of the islet cellsinsulin-producing tumour of islet cellsinsulin-producing tumour of the islet cellspancreatic Beta cell tumorpancreatic Beta cell tumourpancreatic insulin producing neoplasmpancreatic insulin producing NETpancreatic insulin producing tumorpancreatic insulin producing tumour

Summary

Pancreatic insulin-producing neuroendocrine tumor (MONDO:0005048) is a cancer with 1 cohort gene (1 CIViC-evidence somatic driver; 1 ClinVar predisposition record).

At a glance

  • Classification: Cancer
  • Prevalence: Unknown (Europe) [Orphanet-validated]
  • Cohort genes: 1
  • ClinVar variants: 1
  • Phenotypes (HPO): 34

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

TypeClassValueGeographyValidation
Annual incidence1-9 / 1 000 0000.25WorldwideValidated
Annual incidence1-9 / 1 000 0000.12IrelandValidated
Point prevalence1-9 / 1 000 0000.56JapanValidated

Signs & symptoms

Clinical features (HPO)

34 HPO clinical features (Orphanet curated; top 34 by frequency):

HPO IDTermFrequency
HP:0000825Hyperinsulinemic hypoglycemiaVery frequent (80-99%)
HP:0000842HyperinsulinemiaVery frequent (80-99%)
HP:0000975HyperhidrosisVery frequent (80-99%)
HP:0001250SeizureVery frequent (80-99%)
HP:0001337TremorVery frequent (80-99%)
HP:0001958Nonketotic hypoglycemiaVery frequent (80-99%)
HP:0001962PalpitationsVery frequent (80-99%)
HP:0001988Recurrent hypoglycemiaVery frequent (80-99%)
HP:0006476Abnormality of the pancreatic islet cellsVery frequent (80-99%)
HP:0008283Fasting hyperinsulinemiaVery frequent (80-99%)
HP:0010534Transient global amnesiaVery frequent (80-99%)
HP:0000708Atypical behaviorFrequent (30-79%)
HP:0002044Zollinger-Ellison syndromeFrequent (30-79%)
HP:0002591PolyphagiaFrequent (30-79%)
HP:0003324Generalized muscle weaknessFrequent (30-79%)
HP:0004324Increased body weightFrequent (30-79%)
HP:0004372Reduced consciousness/confusionFrequent (30-79%)
HP:0006767Pituitary prolactin cell adenomaFrequent (30-79%)
HP:0007159Fluctuations in consciousnessFrequent (30-79%)
HP:0008200Primary hyperparathyroidismFrequent (30-79%)
HP:0012051Reactive hypoglycemiaFrequent (30-79%)
HP:0000364Hearing abnormalityOccasional (5-29%)
HP:0000504Abnormality of visionOccasional (5-29%)
HP:0000739AnxietyOccasional (5-29%)
HP:0001254LethargyOccasional (5-29%)
HP:0001259ComaOccasional (5-29%)
HP:0002494Abnormal rapid eye movement sleepOccasional (5-29%)
HP:0003401ParesthesiaOccasional (5-29%)
HP:0010832Abnormality of pain sensationOccasional (5-29%)
HP:0011446Abnormality of higher mental functionOccasional (5-29%)
HP:0012378FatigueOccasional (5-29%)
HP:0100631Neoplasm of the adrenal glandOccasional (5-29%)
HP:0100634Neuroendocrine neoplasmOccasional (5-29%)
HP:0100785InsomniaOccasional (5-29%)

Identifiers

Disease identifiers

FieldValue
Canonical namepancreatic insulin-producing neuroendocrine tumor
Mondo IDMONDO:0005048
EFOEFO:0000549
Orphanet97279
NCITC3140
UMLSC5848150
MedGen1844884
GARD0003010
Is cancer (heuristic)yes

Also known as: beta cell neoplasm · Beta cell tumor · Beta cell tumor of pancreas · Beta cell tumor of the pancreas · beta cell tumor of the pancreas · Beta cell tumour · Beta cell tumour of pancreas · Beta cell tumour of the pancreas · beta cell tumour of the pancreas · insulin-producing islet cell tumor · insulin-producing islet cell tumour · insulin-producing tumor of islet cells · insulin-producing tumor of the islet cells · insulin-producing tumour of islet cells · insulin-producing tumour of the islet cells · pancreatic Beta cell tumor · pancreatic Beta cell tumour · pancreatic insulin producing neoplasm · pancreatic insulin producing NET · pancreatic insulin producing tumor (+4 more)

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › digestive system neuroendocrine neoplasm › digestive system neuroendocrine tumor, grade 1/2 › pancreatic neuroendocrine tumor › pancreatic insulin-producing neuroendocrine tumor

Related subtypes (10): pancreatic delta cell neuroendocrine tumor, pancreatic gastrin-producing neuroendocrine tumor, non-functional pancreatic neuroendocrine tumor, somatostatinoma, GRFoma, PPoma, glucagonoma, VIPoma, pancreatic neuroendocrine tumor G1, functional pancreatic neuroendocrine tumor

Subtypes (1): pancreatic insulinoma

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

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVarVariant (HGVS)GeneClassificationReview
523339NM_001370259.2(MEN1):c.371_372del (p.Val124fs)MEN1Pathogeniccriteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 7 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

GeneintOGen roleCancer typesCIViC
MEN1LoFACC,BLCA,BRCA,HCC,LUNG,PANCREAS,PANET,WDTCCIViC #3485

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
MEN1Orphanet:2965Prolactinoma
MEN1Orphanet:314786Silent pituitary adenoma
MEN1Orphanet:314790Null pituitary adenoma
MEN1Orphanet:652Multiple endocrine neoplasia type 1
MEN1Orphanet:97279Insulinoma
MEN1Orphanet:99725Pituitary gigantism
MEN1Orphanet:99879Familial isolated hyperparathyroidism

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
MEN1HGNC:7010ENSG00000133895O00255Meninclinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
MEN1MeninEssential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates ‘Lys-4’ of histone H3 (H3K4).

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown11.8×0.558

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
MEN1Other/UnknownnoMenin

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
granulocyte1
lower esophagus mucosa1
right hemisphere of cerebellum1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
MEN1271ubiquitousmarkergranulocyte, lower esophagus mucosa, right hemisphere of cerebellum

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
MEN15,226

Structural data

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

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
MEN1O0025569

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 24. 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
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer1368.4×0.018MEN1
RHO GTPases activate IQGAPs1346.1×0.018MEN1
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription1308.6×0.018MEN1
Formation of WDR5-containing histone-modifying complexes1265.6×0.018MEN1
Deactivation of the beta-catenin transactivating complex1233.1×0.018MEN1
Signaling by TGF-beta Receptor Complex1200.3×0.018MEN1
Epigenetic regulation by WDR5-containing histone modifying complexes1154.3×0.018MEN1
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)1146.4×0.018MEN1
Formation of the beta-catenin:TCF transactivating complex1120.2×0.018MEN1
TCF dependent signaling in response to WNT1117.7×0.018MEN1
Signaling by TGFB family members1115.3×0.018MEN1
Signaling by WNT1112.0×0.018MEN1
Post-translational protein phosphorylation1100.2×0.018MEN1
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)186.5×0.020MEN1
Epigenetic regulation of gene expression171.4×0.022MEN1
RHO GTPase Effectors168.0×0.022MEN1
Signaling by Rho GTPases134.2×0.040MEN1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3133.5×0.040MEN1
RNA Polymerase II Transcription122.5×0.056MEN1
Post-translational protein modification119.2×0.063MEN1
Gene expression (Transcription)117.8×0.064MEN1
Generic Transcription Pathway115.1×0.072MEN1
Metabolism of proteins112.4×0.084MEN1
Signal Transduction110.2×0.098MEN1

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
negative regulation of cyclin-dependent protein serine/threonine kinase activity12106.5×0.005MEN1
T-helper 2 cell differentiation11872.4×0.005MEN1
osteoblast development1991.3×0.005MEN1
obsolete negative regulation of DNA-binding transcription factor activity1732.7×0.005MEN1
negative regulation of protein phosphorylation1581.1×0.005MEN1
response to gamma radiation1581.1×0.005MEN1
negative regulation of JNK cascade1561.7×0.005MEN1
positive regulation of transforming growth factor beta receptor signaling pathway1526.6×0.005MEN1
transcription initiation-coupled chromatin remodeling1383.0×0.005MEN1
response to UV1366.4×0.005MEN1
negative regulation of osteoblast differentiation1295.6×0.006MEN1
negative regulation of cell cycle1290.6×0.006MEN1
MAPK cascade1153.2×0.010MEN1
DNA repair163.8×0.022MEN1
DNA damage response153.5×0.025MEN1
negative regulation of cell population proliferation142.1×0.030MEN1
negative regulation of DNA-templated transcription131.6×0.037MEN1
negative regulation of transcription by RNA polymerase II117.7×0.063MEN1
positive regulation of transcription by RNA polymerase II114.9×0.071MEN1
regulation of transcription by RNA polymerase II111.7×0.086MEN1

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Bevacizumab, Temsirolimus.

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
MEN1LOPERAMIDE

Top cohort targets by molecule count

SymbolMoleculesMax phase
MEN14754

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
LOPERAMIDE4MEN1
CANDESARTAN CILEXETIL4MEN1
EVANS BLUE FREE ACID4MEN1
DIENESTROL4MEN1
BEXAROTENE4MEN1
IFOSFAMIDE4MEN1
PROGESTERONE4MEN1
CLOTRIMAZOLE4MEN1
AMINOCAPROIC ACID4MEN1
LATANOPROST4MEN1
FLUORESCEIN4MEN1
OXCARBAZEPINE4MEN1
SALMETEROL XINAFOATE4MEN1
AMIODARONE HYDROCHLORIDE4MEN1
TRICLABENDAZOLE4MEN1
TRYPAN BLUE FREE ACID4MEN1
MIGALASTAT4MEN1
DROPERIDOL4MEN1
ARIPIPRAZOLE4MEN1
AMOXAPINE4MEN1
RALOXIFENE HYDROCHLORIDE4MEN1
IDARUBICIN4MEN1
ACETAMINOPHEN4MEN1
OXYBUTYNIN CHLORIDE4MEN1
DECAMETHONIUM BROMIDE4MEN1
DESLORATADINE4MEN1
DITHIAZANINE4MEN1
TRIMETREXATE4MEN1
NICARDIPINE HYDROCHLORIDE4MEN1
PROTRIPTYLINE HYDROCHLORIDE4MEN1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

SymbolAssaysType breakdown
MEN193Binding:86, Functional:7

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).

Drug repurposing candidates

30 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

CompoundMax phaseCohort target (bioactivity)
LOPERAMIDE4MEN1
CANDESARTAN CILEXETIL4MEN1
EVANS BLUE FREE ACID4MEN1
DIENESTROL4MEN1
BEXAROTENE4MEN1
IFOSFAMIDE4MEN1
PROGESTERONE4MEN1
CLOTRIMAZOLE4MEN1
AMINOCAPROIC ACID4MEN1
LATANOPROST4MEN1
FLUORESCEIN4MEN1
OXCARBAZEPINE4MEN1
SALMETEROL XINAFOATE4MEN1
AMIODARONE HYDROCHLORIDE4MEN1
TRICLABENDAZOLE4MEN1
TRYPAN BLUE FREE ACID4MEN1
MIGALASTAT4MEN1
DROPERIDOL4MEN1
ARIPIPRAZOLE4MEN1
AMOXAPINE4MEN1
RALOXIFENE HYDROCHLORIDE4MEN1
IDARUBICIN4MEN1
ACETAMINOPHEN4MEN1
OXYBUTYNIN CHLORIDE4MEN1
DECAMETHONIUM BROMIDE4MEN1
DESLORATADINE4MEN1
DITHIAZANINE4MEN1
TRIMETREXATE4MEN1
NICARDIPINE HYDROCHLORIDE4MEN1
PROTRIPTYLINE HYDROCHLORIDE4MEN1

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)1MEN1
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.

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_targetciviccivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgwasgwas_studyhgncintactinterprointogenmedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot