Lipoma
diseaseOn this page
Also known as benign lipomatous tumourbenign tumour of adipose tissuelipoma, benignlipomatosis, familial multiplelipomatous neoplasm (morphologic abnormality)lipomatous tumourmultiple lipomatosistumour of adipose tissue
Summary
Lipoma (MONDO:0005106) is a disease (an umbrella term covering 30 Mondo subtypes) with 14 GWAS associations across 9 studies and 13 clinical trials. Top therapeutic interventions include collagenase clostridium histolyticum and deoxycholic acid. A subtype of benign lipomatous neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 30 Mondo subtypes
- GWAS associations: 14
- Clinical trials: 13
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | lipoma |
| Mondo ID | MONDO:0005106 |
| EFO | EFO:0000759 |
| MeSH | D008067 |
| DOID | DOID:3315 |
| ICD-11 | 1090000716 |
| NCIT | C3192 |
| SNOMED CT | 93163002 |
| UMLS | C0023798 |
| MedGen | 44173 |
| Is cancer (heuristic) | no |
Also known as: benign lipomatous tumour · benign tumour of adipose tissue · lipoma · lipoma, benign · lipomatosis, familial multiple · lipomatous neoplasm (morphologic abnormality) · lipomatous tumour · multiple lipomatosis · tumour of adipose tissue
Data availability: 14 GWAS associations (9 studies) · 6 cell lines.
Disease family
This is a subtype of benign lipomatous neoplasm. 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 body system or component › musculoskeletal system disorder › musculoskeletal system benign neoplasm › benign connective and soft tissue neoplasm › benign lipomatous neoplasm › lipoma
Related subtypes (2): lipomatosis, lipoblastoma
Subtypes (30): endobronchial lipoma, spindle cell lipoma, esophageal lipoma, skin lipoma, liver lipoma, pleomorphic lipoma, conventional lipoma, kidney lipoma, pleural lipoma, breast lipoma, chest wall lipoma, gallbladder lipoma, external ear lipoma, axillary lipoma, paratesticular lipoma, chondroid lipoma, thymus lipoma, heart lipoma, central nervous system lipoma, colorectal lipoma, internal auditory canal lipoma, infiltrating lipoma, tendon sheath lipoma, lumbosacral lipoma, angiolipoma, familial multiple lipomatosis, hibernoma, lipoma of stomach, lipoma of face, tonsillar lipoma
Genetics & variants
GWAS landscape
14 GWAS associations across 9 studies. Top hits map to 8 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs1209731 | 3e-31 | NME7 | T | 0.38 |
| rs35446936 | 8e-25 | ACTRT3 | G | 0.15 |
| rs10069690 | 4e-21 | TERT | C | 0.1 |
| rs9420907 | 7e-20 | STN1 | C | 0.12 |
| rs911547 | 2e-15 | STN1 | G | 0.13 |
| chr6:106253136 | 2e-15 | A | 0.1 | |
| rs2242652 | 2e-15 | TERT | G | 0.13 |
| rs7124615 | 1e-12 | BET1L | T | 0.17 |
| rs4149909 | 4e-12 | EXO1 | A | 0.21 |
| rs138390978 | 4e-08 | KCNH7 | ? | |
| rs78494278 | 5e-08 | DCLK1 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90475618 | Verma A | 2024 | 14,648 | 418,993 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435660 | Zhou W | 2018 | 6,271 | 401,613 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90477260 | Verma A | 2024 | 5,753 | 111,288 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479841 | Verma A | 2024 | 5,753 | 111,288 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90042867 | Jiang L | 2021 | 5,217 | 451,131 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90477259 | Verma A | 2024 | 2,094 | 55,726 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90042868 | Jiang L | 2021 | 655 | 455,693 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90651655 | Liu TY | 2025 | 456 | 233,102 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90651722 | Liu TY | 2025 | 172 | 233,102 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 9 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 7 |
| low_freq (0.01-0.05) | 2 |
| rare (<0.01) | 0 |
| unknown | 2 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 7 |
| 3_prime_UTR_variant | 1 |
| unknown | 1 |
| intergenic_variant | 1 |
| missense_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs1209731 | 1 | 169355555 | T>A,C,G | 0.045 | intron_variant | NME7 | 3e-31 | Tier 4: intronic/intergenic |
| rs35446936 | 3 | 169768720 | G>A,C | 0.245 | intron_variant | ACTRT3 | 8e-25 | Tier 4: intronic/intergenic |
| rs10069690 | 5 | 1279675 | C>T | 0.32 | intron_variant | TERT | 4e-21 | Tier 4: intronic/intergenic |
| rs9420907 | 10 | 103916707 | C>A,G,T | 0.225 | intron_variant | STN1 | 7e-20 | Tier 4: intronic/intergenic |
| rs911547 | 10 | 103879663 | G>A,C,T | 0.156 | 3_prime_UTR_variant | STN1 | 2e-15 | Tier 2: splice/UTR |
| chr6:106253136 | 0.409 | 2e-15 | Tier 4: intronic/intergenic | |||||
| rs2242652 | 5 | 1279913 | G>A | 0.189 | intron_variant | TERT | 2e-15 | Tier 4: intronic/intergenic |
| rs7124615 | 11 | 186604 | T>A,C | 0.16 | intergenic_variant | BET1L | 1e-12 | Tier 4: intronic/intergenic |
| rs4149909 | 1 | 241860596 | A>G,T | 0.032 | missense_variant | EXO1 | 4e-12 | Tier 1: coding |
| rs138390978 | 2 | 162494016 | A>T | intron_variant | KCNH7 | 4e-08 | Tier 4: intronic/intergenic | |
| rs78494278 | 13 | 35968938 | G>A | intron_variant | DCLK1 | 5e-08 | 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
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): Collagenase Clostridium Histolyticum, Deoxycholic Acid.
Clinical trials & evidence
Clinical trials
Clinical trials: 13.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 6 |
| PHASE2 | 3 |
| PHASE1/PHASE2 | 2 |
| PHASE1 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06820164 | PHASE1/PHASE2 | RECRUITING | Lipomas Treated With Subcutaneous Injections of Cooled or Warmed Sodium Chloride |
| NCT00608842 | PHASE2 | COMPLETED | Phase 2 Study for the Treatment of Superficial Lipomas |
| NCT00624416 | PHASE1/PHASE2 | COMPLETED | Association of Beta-2 Adrenergic Agonist and Corticosteroid Injection in the Treatment of Lipomas |
| NCT01613313 | PHASE2 | COMPLETED | A Dose Escalation Study Using Collagenase Clostridium Histolyticum in the Treatment of Lipoma |
| NCT02249052 | PHASE2 | COMPLETED | Double Blind Study to Evaluate the Efficacy of Collagenase Histolyticum in the Treatment of Lipoma |
| NCT07237425 | PHASE1 | RECRUITING | Intralesional Ronkyla Plus Injection for the Treatment of Superficial Lipoma |
| NCT00422188 | PHASE1 | COMPLETED | Deoxycholic Acid Injection for the Treatment of Superficial Lipomas |
| NCT06903208 | Not specified | RECRUITING | RFA for Superficial Lipomas |
| NCT07014163 | Not specified | RECRUITING | Evaluating the Efficacy and Safety of Embella (Deoxycholic Acid, Produced by Espad Pharmed Co.) Injection in the Management of Superficial Lipomas |
| NCT02753361 | Not specified | COMPLETED | Ultra-sounded Guided Regional Blockade for Lipoma Excision |
| NCT03900078 | Not specified | COMPLETED | Incisional Negative Pressure Wound Therapy for Resection of Soft Tissue Tumors |
| NCT07384299 | Not specified | COMPLETED | Impact of Skin Type on Wonud Healing and Scarring Following Facial Skin Surgery |
| NCT07441538 | Not specified | COMPLETED | Optimizing the Timing for Facial Surgical Dressing Removal |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| COLLAGENASE CLOSTRIDIUM HISTOLYTICUM | 4 | 2 |
| DEOXYCHOLIC ACID | 4 | 1 |