Parasitic infectious disease
diseaseOn this page
Also known as disease caused by parasitedisease, parasiticdiseases, parasiticectoparasitic diseaseparasitemiaparasitic diseaseparasitic infection
Summary
Parasitic infectious disease (MONDO:0005135) is a disease (an umbrella term covering 17 Mondo subtypes) with 16 GWAS associations across 10 studies and 30 clinical trials. Top therapeutic interventions include primaquine, albendazole, and mebendazole. A subtype of infectious disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 17 Mondo subtypes
- GWAS associations: 16
- Clinical trials: 30
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | parasitic infectious disease |
| Mondo ID | MONDO:0005135 |
| EFO | EFO:0001067 |
| MeSH | D010272 |
| DOID | DOID:1398 |
| NCIT | C27864 |
| SNOMED CT | 17322007 |
| UMLS | C0030499 |
| MedGen | 45325 |
| Is cancer (heuristic) | no |
Also known as: disease caused by parasite · disease, parasitic · diseases, parasitic · ectoparasitic disease · parasitemia · parasitic disease · parasitic infection
Data availability: 16 GWAS associations (10 studies).
Disease family
This is a subtype of infectious disease. 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 › disease of primarily extrinsic mechanism › infectious disease › parasitic infectious disease
Related subtypes (34): infective endocarditis, hirudiniasis, fungal infectious disease, infectious peritonitis, epididymitis, viral infectious disease, bacterial infectious disease, abscess, Ciliophora infectious disease, hookworm infectious disease, infectious embryofetopathy, mycetoma, infectious disorder of the nervous system, ear infection, sexually transmitted disease, puerperal infection, Acanthamoeba infectious disease, infectious myositis, infective vaginitis, skin disorder caused by infection, respiratory tract infectious disorder, nail infection, infective arthritis, digestive system infectious disorder, nosocomial infection, eye infectious disorder, prosthesis-related infectious disease, vector-borne disease, coinfection, urinary tract infection, hemorrhagic fever, protothecosis, pythiosis, infectious disease with sepsis
Subtypes (17): parasitic Ichthyosporea infectious disease, protozoa infectious disease, helminthiasis, coccidioidomycosis, cryptococcosis, microsporidiosis, Strongylida infectious disease, distomatosis, parasitic myositis, demodicidosis, cutaneous larva migrans, amoebiasis due to Entamoeba histolytica, amoebiasis due to free-living amoebae, parasitic eye infection, parasitic intestinal disorder, parasitemia, parasitic skin disorder
Genetics & variants
GWAS landscape
16 GWAS associations across 10 studies. Top hits map to 11 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs1404947256 | 9e-15 | LINC01836 | T | 2.35 |
| rs184017033 | 1e-12 | RPL7P40 - PSMC1P8 | G | 3.93 |
| rs186862478 | 2e-12 | LINC02948 | G | 4.17 |
| rs545672984 | 3e-12 | AMD1P4 - HIVEP1 | G | 3.19 |
| rs77011102 | 5e-12 | OTOA | G | 2.71 |
| rs572297497 | 7e-12 | RPL34-DT | C | 2.14 |
| rs187348521 | 9e-12 | RNA5SP43 - RPS29P6 | C | 3.92 |
| rs531011069 | 1e-11 | PTPRT | G | 2.3 |
| rs543919031 | 1e-11 | RBM19 | G | 2.62 |
| rs183412132 | 1e-11 | MBOAT2 | G | 1.8 |
| rs569460015 | 1e-11 | ARHGAP15-AS1 - Y_RNA | G | 2.85 |
| rs186736215 | 2e-11 | WNT4 | C | 3.48 |
| rs147454170 | 2e-11 | CASP3P1 - LINC01788 | A | 2.11 |
| rs941002056 | 3e-11 | SDK1 | G | 3.35 |
| rs187913204 | 4e-11 | LINC00922 | A | 2.83 |
| rs148792421 | 1e-07 | PDGFD | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477164 | Verma A | 2024 | 4,222 | 435,827 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477163 | Verma A | 2024 | 2,116 | 115,459 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479773 | Verma A | 2024 | 2,116 | 115,459 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477161 | Verma A | 2024 | 1,761 | 444,971 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477162 | Verma A | 2024 | 631 | 57,674 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479772 | Verma A | 2024 | 449 | 119,944 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481471 | Verma A | 2024 | 449 | 119,944 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651903 | Liu TY | 2025 | 435 | 235,297 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90481470 | Verma A | 2024 | 272 | 58,807 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435567 | Zhou W | 2018 | 205 | 408,429 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 15 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 15 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 13 |
| intergenic_variant | 2 |
| 3_prime_UTR_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs1404947256 | 19 | 786084 | T>A | 0.001 | intron_variant | LINC01836 | 9e-15 | Tier 4: intronic/intergenic |
| rs184017033 | 12 | 17242509 | G>A | 0 | intergenic_variant | RPL7P40 - PSMC1P8 | 1e-12 | Tier 4: intronic/intergenic |
| rs186862478 | 8 | 29565571 | G>A | 0 | intron_variant | LINC02948 | 2e-12 | Tier 4: intronic/intergenic |
| rs545672984 | 6 | 11925014 | G>A | 0 | intron_variant | AMD1P4 - HIVEP1 | 3e-12 | Tier 4: intronic/intergenic |
| rs77011102 | 16 | 21723477 | G>A | 0 | intron_variant | OTOA | 5e-12 | Tier 4: intronic/intergenic |
| rs572297497 | 4 | 108582778 | C>T | 0.001 | intron_variant | RPL34-DT | 7e-12 | Tier 4: intronic/intergenic |
| rs187348521 | 1 | 37286849 | C>T | 0 | intron_variant | RNA5SP43 - RPS29P6 | 9e-12 | Tier 4: intronic/intergenic |
| rs531011069 | 20 | 43151261 | G>A | 0.001 | intron_variant | PTPRT | 1e-11 | Tier 4: intronic/intergenic |
| rs543919031 | 12 | 113926176 | G>A,T | 0.001 | intron_variant | RBM19 | 1e-11 | Tier 4: intronic/intergenic |
| rs183412132 | 2 | 8868856 | G>A,C,T | 0.003 | intron_variant | MBOAT2 | 1e-11 | Tier 4: intronic/intergenic |
| rs569460015 | 2 | 143849661 | G>A | 0 | intron_variant | ARHGAP15-AS1 - Y_RNA | 1e-11 | Tier 4: intronic/intergenic |
| rs186736215 | 1 | 22117783 | C>A,G,T | 0 | 3_prime_UTR_variant | WNT4 | 2e-11 | Tier 2: splice/UTR |
| rs147454170 | 1 | 70667788 | A>G | 0.001 | intergenic_variant | CASP3P1 - LINC01788 | 2e-11 | Tier 4: intronic/intergenic |
| rs941002056 | 7 | 4182880 | G>A | 0 | intron_variant | SDK1 | 3e-11 | Tier 4: intronic/intergenic |
| rs187913204 | 16 | 65531684 | A>C,G,T | 0.001 | intron_variant | LINC00922 | 4e-11 | Tier 4: intronic/intergenic |
| rs148792421 | 11 | 104134112 | T>C | intron_variant | PDGFD | 1e-07 | 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
13 approved, 2 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Abametapir | Approved (phase 4) |
| Benzyl Alcohol | Approved (phase 4) |
| Benzyl Benzoate | Approved (phase 4) |
| Bioallethrin | Approved (phase 4) |
| Diethyltoluamide | Approved (phase 4) |
| Dimethicone | Approved (phase 4) |
| Disulfiram | Approved (phase 4) |
| Lindane | Approved (phase 4) |
| Malathion | Approved (phase 4) |
| Permethrin | Approved (phase 4) |
| Phenothrin | Approved (phase 4) |
| Pyrethrum Extract | Approved (phase 4) |
| Tetramethrin | Approved (phase 4) |
| Albendazole | Phase 3 (in late-stage trials) |
| Retinol | Phase 3 (in late-stage trials) |
Clinical trials & evidence
Clinical trials
Clinical trials: 30.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 21 |
| PHASE1 | 5 |
| PHASE2 | 2 |
| PHASE4 | 1 |
| PHASE1/PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02653898 | PHASE4 | UNKNOWN | Malaria Elimination Pilot Study in Military Forces in Cambodia |
| NCT05978037 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | A Study to Assess the Safety and Effectiveness of Two Experimental Malaria Vaccines |
| NCT02909712 | PHASE2 | COMPLETED | Cardiac Safety of Dihydroartemisinin-Piperaquine Amongst Pregnant Women in Tanzania |
| NCT03399318 | PHASE2 | COMPLETED | Aggressive Antipyretics for Fever Reduction in CNS Malaria |
| NCT06141057 | PHASE1 | ACTIVE_NOT_RECRUITING | A Study to Compare Two Dosing Regimens for a New Malaria Vaccine |
| NCT01533961 | PHASE1 | COMPLETED | Human African Trypanosomiasis: First in Man Clinical Trial of a New Medicinal Product, the SCYX-7158 |
| NCT04310085 | PHASE1 | COMPLETED | Study in Blood Stage Malaria Infection After DVI of Cryopreserved P. Falciparum (NF54 Strain) Sporozoites |
| NCT05287893 | PHASE1 | COMPLETED | Pyronaridine in Healthy Adult Participants Infected With Blood Stage Malaria |
| NCT05979207 | PHASE1 | COMPLETED | Phase 1b MMV367 PK/PD and Safety in Healthy Adult Volunteers Experimentally Infected With Blood Stage P. Falciparum |
| NCT00001230 | Not specified | RECRUITING | Host Response to Infection and Treatment in Filarial Diseases |
| NCT00001406 | Not specified | RECRUITING | Activation and Function of Eosinophils in Conditions With Blood or Tissue Eosinophilia |
| NCT00344188 | Not specified | RECRUITING | Diagnosis and Treatment of Leishmania Infections |
| NCT04992104 | Not specified | ACTIVE_NOT_RECRUITING | Microbiome and Malnutrition in Pregnancy |
| NCT07110636 | Not specified | RECRUITING | Microbial Cell-free Metagenomic Sequencing for Suspected Infections in Adult Immunocompromised Outpatients |
| NCT00001162 | Not specified | TERMINATED | Parasitic Infections of the Gastrointestinal Tract |
| NCT00511589 | Not specified | COMPLETED | Chagas Disease Diagnostic - Inconclusive Serology |
| NCT01050374 | Not specified | COMPLETED | Safety and Efficacy of Drug Combinations Against Schistosomiasis |
| NCT01050452 | Not specified | COMPLETED | Safety and Efficacy of Drug Combinations Against Trichuris Trichiura |
| NCT01050517 | Not specified | COMPLETED | Safety and Efficacy of Drug Combinations Against Triple Infections |
| NCT01080989 | Not specified | COMPLETED | The Sero-Prevalence and Genetic Study for the Infectious Diseases and Metabolic Syndrome in Solomon Islands |
| NCT01425073 | Not specified | COMPLETED | Discontinuation of Trimethoprim-sulfamethoxazole Prophylaxis in Adults on Antiretroviral Therapy in Kenya |
| NCT01586169 | Not specified | COMPLETED | Safety of the Co-administration of Three Drugs for Trachoma and Lymphatic Filariasis Elimination |
| NCT01784315 | Not specified | UNKNOWN | Parasitic Clearance and Recurrence Rates Among Patients With Vivax Malaria |
| NCT01931085 | Not specified | NO_LONGER_AVAILABLE | Compassionate Use of Triclabendazole for the Treatment of Parasites (Prior to FDA Approval; Expanded Access Program) |
| NCT02689193 | Not specified | COMPLETED | IDIS Project Work Package 2: Establishing a Biobank at ITM and Collaborating Centres |
| NCT04314999 | Not specified | COMPLETED | Frequency of Parasite Infestation in Patients With Chronic Spontaneous Urticaria |
| NCT04576273 | Not specified | COMPLETED | Enterobius Vermicularis Infestation of the Appendix |
| NCT05086887 | Not specified | UNKNOWN | Infections in Migrants in Sweden - the Importance of Malaria and Other Parasitic Infections |
| NCT05108675 | Not specified | UNKNOWN | Microbiome and Malnutrition in Pregnancy (MMiP) |
| NCT06256471 | Not specified | UNKNOWN | The Impact of Parasitic Infection on Multiple Sclerosis and Nephrotic Syndrome |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| PRIMAQUINE | 4 | 6 |
| ALBENDAZOLE | 4 | 3 |
| MEBENDAZOLE | 4 | 2 |
| PRAZIQUANTEL | 4 | 2 |
| ARTESUNATE | 4 | 1 |
| DIETHYLCARBAMAZINE | 4 | 1 |
| MEFLOQUINE | 4 | 1 |
| TRICLABENDAZOLE | 4 | 1 |
| PYRONARIDINE | 3 | 1 |
| ACOZIBOROLE | 2 | 1 |
| CHEMBL3264245 | 0 | 2 |
| (S,R)-MEFLOQUINE | 0 | 1 |