Peritonitis

Summary

Peritonitis (MONDO:1010128) is a disease with 1 cohort gene (4 GWAS associations across 16 studies) and 78 clinical trials. Top therapeutic interventions include clavulanic acid, doripenem, and tigecycline.

At a glance

• Cohort genes: 1
• GWAS associations: 4
• ClinVar variants: 2
• Clinical trials: 78

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	peritonitis
Mondo ID	MONDO:1010128
MeSH	D010538
ICD-11	775356003
UMLS	C0031154
MedGen	14697
Is cancer (heuristic)	no

Also known as: peritoneum inflammation

Data availability: 2 ClinVar variants · 4 GWAS associations (16 studies).

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by developmental or physiological process › inflammatory disease › serositis › peritonitis

Related subtypes (3): pleurisy, synovitis, parametritis

Subtypes (2): infectious peritonitis, encapsulating peritoneal sclerosis

Genetics & variants

GWAS landscape

4 GWAS associations across 16 studies. Top hits map to 2 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs4372823	2e-12	ARHGAP15	A	0.19
rs192447147	4e-12	KANK4 - USP1	C	2.12
chr2:144275192	1e-11		C	0.21
rs12624599	5e-08	PPP1R16B	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476078	Verma A	2024	3,646	443,301	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473864	UK Biobank Whole-Genome Sequencing Consortium	2025	3,630	454,810	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90651697	Liu TY	2025	1,507	223,356	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90077708	Backman JD	2021	1,501	330,253	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081694	Backman JD	2021	1,501	330,253	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90077709	Backman JD	2021	1,370	327,682	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081695	Backman JD	2021	1,370	327,682	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90080279	Backman JD	2021	1,102	386,626	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084265	Backman JD	2021	1,102	386,626	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90436362	Zhou W	2018	887	387,338	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	0
Tier 3: regulatory	1
Tier 4: intronic/intergenic	3

MAF distribution

Bucket	Variants
common (>=0.05)	2
low_freq (0.01-0.05)	0
rare (<0.01)	1
unknown	1

Functional consequences

Consequence	Count
intron_variant	2
regulatory_region_variant	1
unknown	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs4372823	2	143568357	A>G	0.192	intron_variant	ARHGAP15	2e-12	Tier 4: intronic/intergenic
rs192447147	1	62355193	C>A,T	0.001	regulatory_region_variant	KANK4 - USP1	4e-12	Tier 3: regulatory
chr2:144275192				0.188			1e-11	Tier 4: intronic/intergenic
rs12624599	20	38886042	C>T		intron_variant	PPP1R16B	5e-08	Tier 4: intronic/intergenic

ClinVar germline variants

2 retrieved; paginated sample, class counts are floors:

1 pathogenic/likely pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
1383	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	TMEM67	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
217725	NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	TMEM67	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TMEM67	Orphanet:140976	RHYNS syndrome
TMEM67	Orphanet:1454	Joubert syndrome with hepatic defect
TMEM67	Orphanet:475	Isolated Joubert syndrome
TMEM67	Orphanet:564	Meckel syndrome
TMEM67	Orphanet:84081	Senior-Boichis syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TMEM67	HGNC:28396	ENSG00000164953	Q5HYA8	Meckelin	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TMEM67	Meckelin	Required for ciliary structure and function.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TMEM67	Other/Unknown	no		Growth_fac_rcpt_cys_sf, Meckelin

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
buccal mucosa cell	1
calcaneal tendon	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TMEM67	203	ubiquitous	marker	buccal mucosa cell, right uterine tube, calcaneal tendon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TMEM67	1,194

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TMEM67	Q5HYA8	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Anchoring of the basal body to the plasma membrane	1	113.1×	0.014	TMEM67
Cilium Assembly	1	108.8×	0.014	TMEM67
Organelle biogenesis and maintenance	1	66.0×	0.015	TMEM67

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
negative regulation of centrosome duplication	1	3370.4×	0.001	TMEM67
non-canonical Wnt signaling pathway	1	581.1×	0.003	TMEM67
ERAD pathway	1	181.2×	0.007	TMEM67
cilium assembly	1	73.6×	0.014	TMEM67

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TMEM67	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	TMEM67

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
TMEM67	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 78.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	57
PHASE4	10
PHASE3	8
PHASE2	2
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07529795	PHASE4	NOT_YET_RECRUITING	Low-dose Norepinephrine Infusion for Prevention of Post-induction Hypotension in Emergency Surgery for Peritonitis
NCT00195351	PHASE4	COMPLETED	Study Comparing Tigecycline Versus Ceftriaxone Sodium Plus Metronidazole in Complicated Intra-abdominal Infection
NCT00230971	PHASE4	COMPLETED	Study Comparing Tigecycline Versus Ceftriaxone Sodium Plus Metronidazole in Complicated Intra-abdominal Infection (cIAI)
NCT01044446	PHASE4	COMPLETED	Effect of Icodextrin on the Treatment Outcome of Peritoneal Dialysis Patients During Acute Peritonitis
NCT01076426	PHASE4	UNKNOWN	Probiotics Use in the Chronic Peritoneal Dialysis Patients
NCT01531543	PHASE4	COMPLETED	Prospective Comparison of Primary Abdominal Closure and Vacuum Assisted Laparostomy in Treatment of Severe Peritonitis
NCT01637792	PHASE4	COMPLETED	Randomized Controlled Trial Comparing Residual Kidney Function in Patients Undergoing Three or Four Exchanges CAPD
NCT02805049	PHASE4	COMPLETED	Pharmacokinetic Study on Echinocandins for Patients With Septic Shock Following Secondary Peritonitis (EPI Study)
NCT02926846	PHASE4	COMPLETED	IV Antibiotics With Lavage for Severe PD Peritonitis
NCT03771170	PHASE4	COMPLETED	Efficacy and Safety of Rheosorbilact® Solution for Infusion, in a Complex Therapy of Peritonitis
NCT00210938	PHASE3	COMPLETED	Doripenem in the Treatment of Complicated Intra-Abdominal Infections
NCT00229060	PHASE3	COMPLETED	Doripenem in the Treatment of Complicated Intra-Abdominal Infections
NCT00657566	PHASE3	COMPLETED	SIS Multicenter Study of Duration of Antibiotics for Intraabdominal Infection
NCT01110382	PHASE3	TERMINATED	A Safety and Tolerability Study of Doripenem Compared With Meropenem in Children Hospitalized With Complicated Intra-abdominal Infections
NCT01222663	PHASE3	COMPLETED	Effects of Hemoperfusion With a Polymyxin B Membrane in Peritonitis With Septic Shock
NCT01311765	PHASE3	COMPLETED	Duration of Antibiotic Therapy in the Treatment of Severe Postoperative Peritonitis Admitted in ICU
NCT03069131	PHASE3	COMPLETED	Two Strategies of Primary Prophylaxis of Spontaneous Bacterial Peritonitis in Severe Cirrhotic Patients With Ascites
NCT03403751	PHASE3	TERMINATED	Phase 3 Study of Reltecimod vs Placebo in Patients With Sepsis-associated Acute Kidney Injury
NCT03334006	PHASE2	RECRUITING	Prospective, Randomized Trial of Personalized Medicine With Pentaglobin® After Surgical Infectious Source Control in Patients With Peritonitis
NCT02882932	PHASE2	COMPLETED	Comparative Evaluation of Intra-operative Peritoneal Lavage With Super Oxidized Solution and Normal Saline in Peritonitis Cases
NCT03790176	PHASE1	UNKNOWN	ZAVI APD ELF Protocol v2.2
NCT03932461	Not specified	RECRUITING	Vacuum Assisted Closure Versus On-demand Relaparotomy in Patients With Fecal or Diffuse Peritonitis
NCT04033614	Not specified	RECRUITING	Fasciotens to Treat an Open Abdomen - a Prospective Cohort Study
NCT04604730	Not specified	RECRUITING	Role of Protective Stoma After Primary Anastomosis for Generalized Peritonitis Due to Perforated Diverticulitis
NCT00131196	Not specified	UNKNOWN	Functional Genomic Influences on Disease Progression and Outcome in Sepsis
NCT00173485	Not specified	UNKNOWN	The Study of Infection and Cell Inflammation in Peritoneal Dialysate
NCT00463762	Not specified	WITHDRAWN	Cefoperazone/Sulbactam In The Treatment Of Serious Intra-Abdominal And Hepatobiliary Infections.
NCT00481962	Not specified	COMPLETED	Health Economic Assessment of Tygacil® in the Treatment of Secondary Peritonitis in Intensive Care Units (ICUs)
NCT00490217	Not specified	COMPLETED	Spontaneous Bacterial Peritonitis: Incidence, Risk Factors and Outcome
NCT00497744	Not specified	COMPLETED	A Pharmacokinetic Study of Cefepime After Administration Into Dialysate in Patients With Continuous Ambulatory Peritoneal Dialysis (CAPD) Peritonitis
NCT00511212	Not specified	WITHDRAWN	Intravenous Immunoglobulin in Combination Therapy With Antibacterial Agents for SSI of the Lower Digestive Tract
NCT00692393	Not specified	COMPLETED	Primary vs. Secondary Anastomosis for Hinchey Stage III-IV Diverticulitis a Prospective Randomized Trial
NCT00889083	Not specified	WITHDRAWN	Hepatic Mitochondrial Function in Sepsis
NCT01096511	Not specified	COMPLETED	Moxifloxacin i.v. in the Treatment of Complicated Intra-Abdominal Infection (cIAI)
NCT01101087	Not specified	COMPLETED	Taurolock for Preventing Bacterial Peritonitis During Renal Insufficiency
NCT01391169	Not specified	COMPLETED	Pedicled Seromuscular Flap For Enforcement Of High Risk Intestinal Anastomoses
NCT01465711	Not specified	COMPLETED	The Value of PSP in Predicting Outcome in ICU Surgical Peritonitis Patients
NCT01621997	Not specified	COMPLETED	Different Retraining Methods vs Usual Care on the Prevention of Peritonitis in Peritoneal Dialysis
NCT01646229	Not specified	COMPLETED	Impact of Early Peri-operative Use of Polymyxin-B Hemoperfusion in Septic Patients Undergoing Emergent Abdominal Surgery
NCT01784458	Not specified	COMPLETED	Clinical Significance of Intra-abdominal Hypertension in Surgical Patients With Severe Sepsis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CLAVULANIC ACID	4	3
DORIPENEM	4	3
TIGECYCLINE	4	3
GENTAMICIN	4	2
SULBACTAM	4	2
AMPICILLIN SODIUM	4	1
CEFAZOLIN	4	1
CEFEPIME	4	1
CEFTAZIDIME	4	1
CEFTRIAXONE	4	1
DALBAVANCIN	4	1
ICODEXTRIN	4	1
LACTIC ACID	4	1
MEROPENEM	4	1
NOREPINEPHRINE	4	1
RIFAXIMIN	4	1
VANCOMYCIN	4	1
D-LACTIC ACID	3	1
RELTECIMOD	3	1
CHEMBL195892	0	2
CHEMBL3039597	0	2
GENTAMICIN C1A	0	2
GENTAMICIN C2	0	2
CHEMBL4299436	0	1
CHEMBL432	0	1
CHEMBL388266	0	1
CHEMBL4740200	0	1
CHEMBL1078033	0	1
CHEMBL4778239	0	1