Hyperplasia
diseaseOn this page
Also known as hyperplastic
Summary
Hyperplasia (MONDO:0005043) is a disease (an umbrella term covering 14 Mondo subtypes) with 4 GWAS associations across 2 studies and 20 clinical trials. Top therapeutic interventions include tamsulosin, metformin, and naftopidil. A subtype of cancer or benign tumor — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 14 Mondo subtypes
- GWAS associations: 4
- Clinical trials: 20
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hyperplasia |
| Mondo ID | MONDO:0005043 |
| EFO | EFO:0000536 |
| MeSH | D006965 |
| NCIT | C3113 |
| UMLS | C0020507 |
| MedGen | 43784 |
| Is cancer (heuristic) | no |
Also known as: hyperplasia · hyperplastic
Data availability: 4 GWAS associations (2 studies) · 5 cell lines.
Disease family
This is a subtype of cancer or benign tumor. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › hyperplasia
Related subtypes (4): polyp, precancerous condition, neoplastic disease or syndrome, cancer-related condition
Subtypes (14): adrenal medullary hyperplasia, atypical endometrial hyperplasia, atypical lobular breast hyperplasia, C-cell hyperplasia, columnar cell hyperplasia of the breast, complex endometrial hyperplasia, endometrial hyperplasia without atypia, parathyroid hyperplasia, simple endometrial hyperplasia, usual ductal breast hyperplasia, focal epithelial hyperplasia, benign prostatic hyperplasia, neuroendocrine cell hyperplasia of infancy, urothelial hyperplasia
Genetics & variants
GWAS landscape
4 GWAS associations across 2 studies. Top hits map to 3 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs1535532 | 4e-12 | B3GLCT - RXFP2 | T | 1.71 |
| rs2025908 | 5e-10 | B3GLCT - RXFP2 | A | 1.08 |
| rs1005002 | 4e-07 | NDP-AS1, NDP | A | 1.38 |
| rs6679531 | 4e-06 | LINC02794 | C | 1.46 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90129619 | Le Floch E | 2022 | 240 | 0 | Identification of risk loci for primary aldosteronism in genome-wide association studies. |
| GCST90129624 | Le Floch E | 2022 | 240 | 0 | Identification of risk loci for primary aldosteronism in genome-wide association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 4 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 4 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intergenic_variant | 2 |
| intron_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs1535532 | 13 | 31540261 | T>A,C,G | 0.05 | intergenic_variant | B3GLCT - RXFP2 | 4e-12 | Tier 4: intronic/intergenic |
| rs2025908 | 13 | 31652262 | G>A,C,T | 0.05 | intergenic_variant | B3GLCT - RXFP2 | 5e-10 | Tier 4: intronic/intergenic |
| rs1005002 | X | 43967818 | G>A | 0.05 | intron_variant | NDP-AS1, NDP | 4e-07 | Tier 4: intronic/intergenic |
| rs6679531 | 1 | 48058508 | T>C | 0.05 | intron_variant | LINC02794 | 4e-06 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
1 approved, 3 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Medroxyprogesterone Acetate | Approved (phase 4) |
| Naftopidil | Phase 3 (in late-stage trials) |
| Tamoxifen | Phase 3 (in late-stage trials) |
| Tamsulosin | Phase 3 (in late-stage trials) |
Clinical trials & evidence
Clinical trials
Clinical trials: 20.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 12 |
| PHASE2/PHASE3 | 2 |
| PHASE4 | 1 |
| PHASE3 | 1 |
| PHASE1/PHASE2 | 1 |
| PHASE2 | 1 |
| EARLY_PHASE1 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01118260 | PHASE4 | COMPLETED | Total Intravenous Anaesthesia (TIVA) Versus Spinal Anaesthesia in Patients Undergoing Transurethral Prostate Resection |
| NCT00041925 | PHASE2/PHASE3 | COMPLETED | Prevention of Autogenous Vein Graft Failure in Peripheral Artery Bypass Procedures |
| NCT00774917 | PHASE2/PHASE3 | UNKNOWN | Numen Stent Assessment Using OCT Technique in a Single Center Study |
| NCT01203371 | PHASE3 | WITHDRAWN | Efficacy And Safety Study Of Naftopidil to Patients Treatment With LUTS |
| NCT02581137 | PHASE2 | ACTIVE_NOT_RECRUITING | Metformin Hydrochloride in Preventing Oral Cancer in Patients With an Oral Premalignant Lesion |
| NCT00086164 | PHASE1/PHASE2 | TERMINATED | Prevention of Vascular Access Graft Failure in Patients With Chronic Renal Failure Requiring Hemodialysis |
| NCT03718234 | PHASE1 | COMPLETED | Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia |
| NCT03182959 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Preventing Recurrence in Patients With Tobacco-Related Head and Neck Squamous Cell Cancer |
| NCT00496639 | Not specified | UNKNOWN | Stent vs. Angioplasty for Treatment of Thrombosed AV Grafts: Long-Term Outcomes |
| NCT00524823 | Not specified | UNKNOWN | Early Detection of Prostate Cancer by FACS |
| NCT00819260 | Not specified | TERMINATED | Harmonic Scalpel Vs. Electrocautery in Breast Reduction Surgery |
| NCT01033357 | Not specified | TERMINATED | Safety Study of the Vascular Wrap Paclitaxel-Eluting Mesh for Hemodialysis Vascular Access |
| NCT01816438 | Not specified | UNKNOWN | A French Non Interventional Multicentric Cohort Study in Patients With Colorectal Dysplasia |
| NCT02063919 | Not specified | COMPLETED | Association Between Confocal Laser Endomicroscopic (CLE) Features and Colorectal Mucosal Microbiome |
| NCT02505256 | Not specified | UNKNOWN | Study Into Treatment of Hyperplasia of Mammary Glands |
| NCT02592473 | Not specified | UNKNOWN | Prostate Artery Embolization (PAE) for Treatment of Benign Prostatic Hyperplasia |
| NCT02853968 | Not specified | COMPLETED | Unlock the Cell: Castleman’s Disease Flow Cytometry Study |
| NCT02871050 | Not specified | WITHDRAWN | Castleman Disease Collaborative Network Biobank |
| NCT03268993 | Not specified | COMPLETED | Effects of Avmacol® in the Oral Mucosa of Patients Following Curative Treatment for Tobacco-related Head and Neck Cancer |
| NCT06272305 | Not specified | UNKNOWN | TREC - Evaluation of the Impact of Eversion Technical Features on the Rate of Carotid Restenosis |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| TAMSULOSIN | 4 | 3 |
| METFORMIN | 4 | 1 |
| NAFTOPIDIL | 4 | 1 |
| EDIFOLIGIDE SODIUM | 3 | 1 |
| EDIFOLIGIDE | 2 | 1 |
Related Atlas pages
- Drugs: Tamsulosin, Metformin, Naftopidil, Edifoligide