Central nervous system infectious disorder
diseaseOn this page
Also known as central nervous system infectioncentral nervous system infectious diseaseinfections, central nervous systeminfectious disease of central nervous system
Summary
Central nervous system infectious disorder (MONDO:0024619) is a disease (an umbrella term covering 12 Mondo subtypes) with 10 GWAS associations across 8 studies and 25 clinical trials. Top therapeutic interventions include colistimethate, ferumoxytol, and meropenem. A subtype of central nervous system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 12 Mondo subtypes
- GWAS associations: 10
- Clinical trials: 25
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | central nervous system infectious disorder |
| Mondo ID | MONDO:0024619 |
| EFO | EFO:1001456 |
| MeSH | D002494 |
| NCIT | C27582 |
| SNOMED CT | 128117002 |
| UMLS | C4759823 |
| MedGen | 1684837 |
| GARD | 0025438 |
| Anatomy (UBERON) | UBERON:0001017 |
| Is cancer (heuristic) | no |
Also known as: central nervous system infection · central nervous system infectious disease · central nervous system infectious disorder · infections, central nervous system · infectious disease of central nervous system
Data availability: 10 GWAS associations (8 studies).
Disease family
This is a subtype of central nervous system disorder. 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 › nervous system disorder › central nervous system disorder › central nervous system infectious disorder
Related subtypes (18): autoimmune disorder of central nervous system, autonomic nervous system disorder, optic nerve disorder, spinal cord disorder, high pressure neurological syndrome, central nervous system vasculitis, encephalomyelitis, neurodegenerative disease, brain disorder, central nervous system neoplasm, palsy, trigeminal neuralgia, infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, sporadic fetal brain disruption sequence, congenital narrowing of cervical spinal canal, cerebrospinal fluid leak, SPAST-related motor disorder, tinnitus
Subtypes (12): intracranial abscess, infectious meningitis, prion disease, cerebral malaria, central nervous system tuberculosis, congenital toxoplasmosis, epidural abscess, neuroschistosomiasis, subdural empyema, human prion disease, infectious encephalitis, viral infection of central nervous system
Genetics & variants
GWAS landscape
10 GWAS associations across 8 studies. Top hits map to 5 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs571777981 | 2e-13 | RAB3C | G | 5.12 |
| rs534913048 | 8e-13 | HTR1D - RPL29P6 | C | 3.81 |
| rs540280981 | 2e-12 | RAD23BP2 - SEMA3A | C | 3.1 |
| rs78990680 | 3e-12 | GHR | G | 5.13 |
| rs187690747 | 5e-12 | TINAG | C | 2.74 |
| rs577353618 | 1e-11 | GUCY1A2 | C | 3.21 |
| rs146288131 | 3e-11 | KIF26B | A | 2.03 |
| rs539918358 | 3e-11 | PTCH1 - ERCC6L2-AS1 | C | 2.72 |
| rs186305933 | 4e-11 | CDRT15P3 - LINC01945 | G | 3.18 |
| rs139842311 | 1e-07 | CLDN23 - MFHAS1 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90473039 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 1,306 | 457,134 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90477477 | Verma A | 2024 | 1,042 | 449,511 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473301 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 843 | 457,597 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90103954 | Tangden T | 2022 | 750 | 336,734 | A genome-wide association study in a large community-based cohort identifies multiple loci associated with susceptibility to bacterial and viral infections. |
| GCST90435897 | Zhou W | 2018 | 289 | 407,888 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90651851 | Liu TY | 2025 | 284 | 235,960 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90479996 | Verma A | 2024 | 263 | 121,441 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481855 | Verma A | 2024 | 263 | 121,441 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
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 | 10 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 9 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 7 |
| intergenic_variant | 3 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs571777981 | 5 | 58631502 | G>A | 0 | intron_variant | RAB3C | 2e-13 | Tier 4: intronic/intergenic |
| rs534913048 | 1 | 23237165 | C>G | 0 | intergenic_variant | HTR1D - RPL29P6 | 8e-13 | Tier 4: intronic/intergenic |
| rs540280981 | 7 | 83834287 | C>G,T | 0.001 | intergenic_variant | RAD23BP2 - SEMA3A | 2e-12 | Tier 4: intronic/intergenic |
| rs78990680 | 5 | 42599314 | G>A | 0 | intron_variant | GHR | 3e-12 | Tier 4: intronic/intergenic |
| rs187690747 | 6 | 54321136 | C>T | 0.001 | intron_variant | TINAG | 5e-12 | Tier 4: intronic/intergenic |
| rs577353618 | 11 | 106820513 | C>T | 0 | intron_variant | GUCY1A2 | 1e-11 | Tier 4: intronic/intergenic |
| rs146288131 | 1 | 245452989 | A>G,T | 0.001 | intron_variant | KIF26B | 3e-11 | Tier 4: intronic/intergenic |
| rs539918358 | 9 | 95672279 | C>G | 0.001 | intron_variant | PTCH1 - ERCC6L2-AS1 | 3e-11 | Tier 4: intronic/intergenic |
| rs186305933 | 2 | 131870134 | G>A | 0.002 | intergenic_variant | CDRT15P3 - LINC01945 | 4e-11 | Tier 4: intronic/intergenic |
| rs139842311 | 8 | 8725354 | T>C,G | intron_variant | CLDN23 - MFHAS1 | 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
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 25.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 22 |
| PHASE4 | 1 |
| EARLY_PHASE1 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02506686 | PHASE4 | COMPLETED | Meropenem Penetration Across BBB in Patients With CNS Infection and Optimization of Meropenem Treatment |
| NCT03776994 | PHASE1 | UNKNOWN | Venezuelan Equine Encephalitis Monovalent Virus-Like Particle Vaccine |
| NCT02452216 | EARLY_PHASE1 | COMPLETED | Using Ferumoxytol-Enhanced MRI to Measure Inflammation in Patients With Brain Tumors or Other Conditions of the CNS |
| NCT03418441 | Not specified | RECRUITING | Central Nervous System Infections in Denmark |
| NCT06358209 | Not specified | RECRUITING | Safety and Efficacy of Ventricular Irrigation for Ventriculitis |
| NCT06412523 | Not specified | ACTIVE_NOT_RECRUITING | Device-related Central Nervous System Infections in Adult Intensive Care Units in Brazil |
| NCT06412549 | Not specified | NOT_YET_RECRUITING | Effect of a Bundle of Interventions on the Outcomes of Patients With Intracranial Devices (ICP Monitor e EVD) |
| NCT06418048 | Not specified | RECRUITING | INfectious DIsease REgistry BIObank |
| NCT06702943 | Not specified | NOT_YET_RECRUITING | Comparing Tigecycline Vs. Colistimethate in CNS Infections |
| NCT06704997 | Not specified | ACTIVE_NOT_RECRUITING | Machine Learning to Predict Factors Affecting Rehabilitation Length of Stay and Healthcare Costs for Neurological Rehabilitation |
| NCT07364539 | Not specified | RECRUITING | Local Registry of Central Nervous System Infections (ReCeNSI) |
| NCT07435649 | Not specified | NOT_YET_RECRUITING | Investigation of the Delve Detect Cerebrospinal Fluid (CSF) Metagenomic Next-generation Sequencing (mNGS) Test When Used for the Initial Diagnostic Workup of Patients With Suspected Central Nervous System (CNS) Infection |
| NCT00172393 | Not specified | UNKNOWN | Long Term Outcomes of EV71 CNS Infection |
| NCT01431326 | Not specified | COMPLETED | Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care |
| NCT01438879 | Not specified | UNKNOWN | Lymphocytic Herpesviruses and Cerebrospinal Fluid Polymerase Chain Reaction (PCR) |
| NCT01520597 | Not specified | COMPLETED | National Study on Listeriosis and Listeria |
| NCT02017665 | Not specified | UNKNOWN | Singapore Neurologic Infections Program |
| NCT02334670 | Not specified | UNKNOWN | Vietnam Cryptococcal Retention in Care Study Version 1.0 |
| NCT03960905 | Not specified | UNKNOWN | A Study the Population Pharmacokinetics of Children of Infectious Disease in Central Nervous System |
| NCT04229511 | Not specified | UNKNOWN | Development of Risk Score Model and Decision Tree Algorithm for Predicting Infections With CRKp in Colonized Patients |
| NCT04722328 | Not specified | UNKNOWN | Establishment of Prevention and Control System of Central Nervous System Infection |
| NCT04737785 | Not specified | COMPLETED | Central Nervous System Disorders Following Hematopoietic Stem Cell Transplantation |
| NCT04796935 | Not specified | COMPLETED | A Study to Test Performance of Needle Placements for Neuraxial Procedures Using Tactile Imaging vs Control |
| NCT05887037 | Not specified | UNKNOWN | Economic Impact of mNGS on Diagnosis of Post-neurosurgical Central Nervous System Infection |
| NCT07044037 | Not specified | COMPLETED | Analysis of Cerebrospinal Fluid in Patients With Cerebral Toxoplasmosis at CHSD (2004-2024) |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| COLISTIMETHATE | 4 | 1 |
| FERUMOXYTOL | 4 | 1 |
| MEROPENEM | 4 | 1 |
| TIGECYCLINE | 4 | 1 |
Related Atlas pages
- Drugs: Colistimethate, Ferumoxytol, Meropenem, Tigecycline