Lymphatic system disorder
diseaseOn this page
Also known as disease of lymphatic part of lymphoid systemdisease or disorder of lymphatic part of lymphoid systemdisorder of lymphatic part of lymphoid systemglands, swollenlymphadenopathylymphangiopathylymphatic diseaselymphatic part of lymphoid system diseaselymphatic part of lymphoid system disease or disorderswollen glandswollen glands
Summary
Lymphatic system disorder (MONDO:0005833) is a disease (an umbrella term covering 14 Mondo subtypes) with 4 GWAS associations across 11 studies and 61 clinical trials. Top therapeutic interventions include brentuximab vedotin, cabazitaxel, and ibrutinib. A subtype of lymphoid system disorder — 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: 61
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | lymphatic system disorder |
| Mondo ID | MONDO:0005833 |
| EFO | EFO:0007352 |
| MeSH | D008206 |
| DOID | DOID:75 |
| NCIT | C50764 |
| SNOMED CT | 362971004 |
| UMLS | C4021976 |
| MedGen | 892707 |
| Anatomy (UBERON) | UBERON:0006558 |
| Is cancer (heuristic) | no |
Also known as: disease of lymphatic part of lymphoid system · disease or disorder of lymphatic part of lymphoid system · disorder of lymphatic part of lymphoid system · glands, swollen · lymphadenopathy · lymphangiopathy · lymphatic disease · lymphatic part of lymphoid system disease · lymphatic part of lymphoid system disease or disorder · swollen gland · swollen glands
Data availability: 4 GWAS associations (11 studies).
Disease family
An umbrella term covering 14 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › immune system disorder › lymphoid system disorder › lymphatic system disorder
Related subtypes (4): tonsillitis, Waldeyer’s ring cancer, peritonsillar abscess, tonsil neoplasm
Subtypes (14): lymphatic system cancer, bubonic plague, splenic disorder, histiocytosis, lymphocele, lymph node disorder, lymphangitis, lymphogranuloma venereum, lymphangiectasis, hemophagocytic syndrome, plastic bronchitis, lymphedema, lymphatic vessel neoplasm, pseudolymphoma
Genetics & variants
GWAS landscape
4 GWAS associations across 11 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 |
|---|---|---|---|---|
| rs6889311 | 2e-13 | SLC12A2 | A | 0.17 |
| rs549523372 | 2e-11 | JUN-DT | A | 2.25 |
| rs76219680 | 5e-09 | PTPRM | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90476002 | Verma A | 2024 | 5,126 | 441,612 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473620 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 3,106 | 455,334 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90727244 | Kim HI | 2026 | 2,205 | 41,821 | Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. |
| GCST90478032 | Verma A | 2024 | 1,249 | 119,425 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480217 | Verma A | 2024 | 1,249 | 119,425 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90080080 | Backman JD | 2021 | 1,174 | 385,860 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084066 | Backman JD | 2021 | 1,174 | 385,860 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90436173 | Zhou W | 2018 | 705 | 408,256 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90482049 | Verma A | 2024 | 368 | 59,165 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651385 | Liu TY | 2025 | 307 | 236,923 | 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 | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 3 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 1 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 3 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs6889311 | 5 | 128095593 | A>G,T | 0.204 | intron_variant | SLC12A2 | 2e-13 | Tier 4: intronic/intergenic |
| rs549523372 | 1 | 59089696 | A>G | 0.001 | intron_variant | JUN-DT | 2e-11 | Tier 4: intronic/intergenic |
| rs76219680 | 18 | 8390271 | A>C,G | intron_variant | PTPRM | 5e-09 | 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
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 61.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 38 |
| PHASE2 | 12 |
| PHASE1 | 5 |
| PHASE1/PHASE2 | 3 |
| PHASE4 | 1 |
| PHASE3 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02960841 | PHASE4 | COMPLETED | Effectiveness of Intracavitary Manual Lymphatic Drainage |
| NCT05431179 | PHASE3 | WITHDRAWN | A Study of Zilovertamab and Ibrutinib in Patients With Relapsed or Refractory Mantle Cell Lymphoma |
| NCT02506933 | PHASE2 | ACTIVE_NOT_RECRUITING | Multi-antigen CMV-MVA Triplex Vaccine in Reducing CMV Complications in Patients Previously Infected With CMV and Undergoing Donor Hematopoietic Cell Transplant |
| NCT02690545 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Study of CD30 CAR for Relapsed/Refractory CD30+ HL and CD30+ NHL |
| NCT03264131 | PHASE2 | ACTIVE_NOT_RECRUITING | BV-CHEP Chemotherapy for Adult T-cell Leukemia or Lymphoma |
| NCT05263583 | PHASE2 | ACTIVE_NOT_RECRUITING | Sepantronium Bromide for the Treatment of High-grade B-cell Lymphoma |
| NCT00605657 | PHASE1/PHASE2 | COMPLETED | Valproic Acid (Depakote[Registered Trademark]) to Treat Autoimmune Lymphoproliferative Syndrome (ALPS) |
| NCT01002755 | PHASE2 | COMPLETED | Lenalidomide and Ofatumumab in Treating Participants With Previously Treated Chronic Lymphocytic Leukemia or Small Lymphocytic Lymphoma |
| NCT01505868 | PHASE1/PHASE2 | COMPLETED | Cabazitaxel With or Without Carboplatin in Treating Patients With Previously Treated Metastatic Castration-Resistant Prostate Cancer |
| NCT02335242 | PHASE2 | COMPLETED | Sildenafil for the Treatment of Lymphatic Malformations |
| NCT02497131 | PHASE2 | COMPLETED | Study on the Role of Brentuximab Vedotin as Single Agent in the Treatment of Relapsed/Refractory CD30+ PTCL Patients |
| NCT02499627 | PHASE2 | TERMINATED | Bendamustine Plus Brentuximab Vedotin in HL and CD30+ PTCL in First Salvage Setting |
| NCT02530515 | PHASE2 | COMPLETED | Ex Vivo-activated Autologous Lymph Node Lymphocytes in Treating Patients With Chronic Lymphocytic Leukemia |
| NCT03135535 | PHASE2 | COMPLETED | Micro-mobile Foot Compression and Diabetic Foot |
| NCT03373019 | PHASE2 | UNKNOWN | Chidamide Combined With R-GDP in Treating Patients With Relapsed or Refractory Diffuse Large B-cell Lymphoma (DLBCL) |
| NCT03499808 | PHASE2 | COMPLETED | S1702 Isatuximab in Treating Patients With Relapsed or Refractory Primary Amyloidosis |
| NCT03744676 | PHASE2 | COMPLETED | A Safety Trial of Lisocabtagene Maraleucel (JCAR017) for Relapsed and Refractory (R/R) B-cell Non-Hodgkin Lymphoma (NHL) in the Outpatient Setting (TRANSCEND-OUTREACH-007) |
| NCT02663297 | PHASE1 | ACTIVE_NOT_RECRUITING | Administration of T Lymphocytes for Prevention of Relapse of Lymphomas |
| NCT03602157 | PHASE1 | ACTIVE_NOT_RECRUITING | Study of CAR-T Cells Expressing CD30 and CCR4 for r/r CD30+ HL and CTCL |
| NCT03696784 | PHASE1 | ACTIVE_NOT_RECRUITING | Anti-CD19 CAR-T Cells With Inducible Caspase 9 Safety Switch for B-cell Lymphoma |
| NCT00065390 | PHASE1 | COMPLETED | Pyrimethamine to Treat Autoimmune Lymphoproliferative Syndrome |
| NCT02948283 | PHASE1 | COMPLETED | Metformin Hydrochloride and Ritonavir in Treating Patients With Relapsed or Refractory Multiple Myeloma or Chronic Lymphocytic Leukemia |
| NCT05683444 | EARLY_PHASE1 | COMPLETED | Octreotide Improves Human Lymphatic Fluid Transport a Translational Trial |
| NCT01451502 | Not specified | RECRUITING | Infusion of Cell Populations From Unlicensed Umbilical Cord Blood Units |
| NCT02537548 | Not specified | ACTIVE_NOT_RECRUITING | Retroperitoneal Lymph Node Dissection in Treating Patients With Testicular Seminoma |
| NCT05441943 | Not specified | ACTIVE_NOT_RECRUITING | Lymphaticovenous Anastomosis as Treatment for Lymphedema |
| NCT05731141 | Not specified | RECRUITING | A Prospective Natural History Study of Lymphatic Anomalies |
| NCT06913569 | Not specified | RECRUITING | EBUS-TTFB vs EBUS-TBNA for Diagnosing Inadequate Lymph Node Specimens Based on MOSE |
| NCT07038707 | Not specified | NOT_YET_RECRUITING | Early Screening Markers of Herpes Zoster Neuralgia |
| NCT07155954 | Not specified | RECRUITING | Value of Super-resolution Ultrasonography in Differentiating Benign and Malignant Lymph Nodes |
| NCT00002048 | Not specified | COMPLETED | The Efficacy and Safety of Retrovir in Patients Infected With HIV Who Are Asymptomatic (CDC Group II) or Have Persistent Generalized Lymphadenopathy (CDC Group III) |
| NCT00002061 | Not specified | COMPLETED | A Multi-Center Randomized Double-Blind Placebo-Controlled Study To Investigate the Effect of Isoprinosine in Immunodepressed Patients With Uncomplicated Generalized Lymphadenopathy |
| NCT00002296 | Not specified | COMPLETED | The Safety and Effectiveness of Isoprinosine in Patients With Weakened Immune Systems and Lymph Node Disease |
| NCT00002297 | Not specified | COMPLETED | A Study of Isoprinosine in Patients With Lymph Node Disease |
| NCT00886847 | Not specified | COMPLETED | Comparison of Endobronchial Ultrasound-Guided Biopsy Using Fine Needle Aspiration Versus Fine Needle Capillary Sampling |
| NCT01130402 | Not specified | COMPLETED | A Real-time and Computerized Sonographic Reporting System in Predicting Malignant Cervical Lymphadenopathy |
| NCT01384357 | Not specified | COMPLETED | Ultrasound-Guided Needle Biopsy in the Diagnosis of Malignant Cervical Lymphadenopathies |
| NCT01465425 | Not specified | UNKNOWN | Extracolonic Findings on Computed Tomography (CT) Colonography |
| NCT01526486 | Not specified | COMPLETED | Videoscopic Versus Open Inguinal Lymphadenectomy for Cancer |
| NCT01563133 | Not specified | UNKNOWN | Clinical Evaluation Of Needle-based Confocal Laser Endomicroscopy in The Lymph Nodes Along With Masses and Cystic Tumors of the Pancreas |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| BRENTUXIMAB VEDOTIN | 4 | 3 |
| CABAZITAXEL | 4 | 1 |
| IBRUTINIB | 4 | 1 |
| ISATUXIMAB | 4 | 1 |
| OCTREOTIDE | 4 | 1 |
| OFATUMUMAB | 4 | 1 |
| PYRIMETHAMINE | 4 | 1 |
| VALPROIC ACID | 4 | 1 |
| INOSINE PRANOBEX | 3 | 3 |
| CIRMTUZUMAB | 3 | 1 |
| LISOCABTAGENE MARALEUCEL | 3 | 1 |
| SEPANTRONIUM | 2 | 3 |
| RIMIDUCID | 2 | 1 |
| CHEMBL3647964 | 0 | 1 |
| CHEMBL4466205 | 0 | 1 |
| CHEMBL4070476 | 0 | 1 |
| CHEMBL4172167 | 0 | 1 |
| CHEMBL4208369 | 0 | 1 |
| CHEMBL3350037 | 0 | 1 |