Pseudomyxoma peritonei

Summary

Pseudomyxoma peritonei (MONDO:0017048) is a disease with 2 cohort genes and 30 clinical trials. Top therapeutic interventions include bromelains, mitomycin, and molgramostim.

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Cohort genes: 2
• Phenotypes (HPO): 12
• Clinical trials: 30

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 1 000 000	0.1	Worldwide	Validated
Point prevalence	1-9 / 100 000	2	Europe	Validated
Annual incidence	1-9 / 1 000 000	0.2	Netherlands	Validated

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO ID	Term	Frequency
HP:0001541	Ascites	Very frequent (80-99%)
HP:0002585	Abnormality of the peritoneum	Very frequent (80-99%)
HP:0004298	Abnormality of the abdominal wall	Very frequent (80-99%)
HP:0002037	Inflammation of the large intestine	Frequent (30-79%)
HP:0001824	Weight loss	Occasional (5-29%)
HP:0002017	Nausea and vomiting	Occasional (5-29%)
HP:0002019	Constipation	Occasional (5-29%)
HP:0002027	Abdominal pain	Occasional (5-29%)
HP:0002093	Respiratory insufficiency	Occasional (5-29%)
HP:0002716	Lymphadenopathy	Occasional (5-29%)
HP:0005214	Intestinal obstruction	Occasional (5-29%)
HP:0100790	Hernia	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	pseudomyxoma peritonei
Mondo ID	MONDO:0017048
MeSH	D011553
Orphanet	26790
DOID	DOID:3559
ICD-11	1849365560
NCIT	C3345
SNOMED CT	307601000
UMLS	C0033822
MedGen	18726
GARD	0007488
MedDRA	10037138
NORD	1628
Is cancer (heuristic)	no

Also known as: Adenomucinosis · gelatinous ascites · mucinous ascites · Myxoma peritonei · peritoneal cavity pseudomyxoma peritonei · PMP · pseudomyxoma peritonei · pseudomyxoma peritonei (morphologic abnormality) · syndrome of pseudomyxoma peritonei · well differentiated peritoneal mucinous adenocarcinoma

Data availability: 5 cell lines.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › cancer › peritoneum cancer › peritoneal carcinoma › pseudomyxoma peritonei

Related subtypes (2): peritoneal serous adenocarcinoma, primary peritoneal carcinoma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 21 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
GNAS	Orphanet:189427	Cushing syndrome due to bilateral macronodular adrenocortical disease
GNAS	Orphanet:2762	Progressive osseous heteroplasia
GNAS	Orphanet:562	McCune-Albright syndrome
GNAS	Orphanet:57782	Mazabraud syndrome
GNAS	Orphanet:79443	Pseudohypoparathyroidism type 1A
GNAS	Orphanet:79444	Pseudohypoparathyroidism type 1C
GNAS	Orphanet:79445	Pseudopseudohypoparathyroidism
GNAS	Orphanet:93276	Polyostotic fibrous dysplasia
GNAS	Orphanet:93277	Monostotic fibrous dysplasia
GNAS	Orphanet:94089	Pseudohypoparathyroidism type 1B
KRAS	Orphanet:1333	Familial pancreatic carcinoma
KRAS	Orphanet:1340	Cardiofaciocutaneous syndrome
KRAS	Orphanet:144	Lynch syndrome
KRAS	Orphanet:146	Differentiated thyroid carcinoma
KRAS	Orphanet:2396	Encephalocraniocutaneous lipomatosis
KRAS	Orphanet:251615	Pilomyxoid astrocytoma
KRAS	Orphanet:2612	Linear nevus sebaceus syndrome
KRAS	Orphanet:268114	RAS-associated autoimmune leukoproliferative disease
KRAS	Orphanet:3339	Oculoectodermal syndrome
KRAS	Orphanet:648	Noonan syndrome
KRAS	Orphanet:86834	Juvenile myelomonocytic leukemia

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
GNAS	HGNC:4392	ENSG00000087460	O95467	Neuroendocrine secretory protein 55	civic_evidence
KRAS	HGNC:6407	ENSG00000133703	P01116	GTPase KRas	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
KRAS	GTPase KRas	Ras proteins bind GDP/GTP and possess intrinsic GTPase activity.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5

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
Enzyme (other)	1	6.0×	0.320
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
GNAS	Other/Unknown	no		NESP55, Gprotein_alpha_S, Gprotein_alpha_su
KRAS	Enzyme (other)	yes	3.6.5.2	Small_GTPase, Small_GTP-bd, Small_GTPase_Ras-type

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
Brodmann (1909) area 46	1
postcentral gyrus	1
type B pancreatic cell	1
nipple	1
pylorus	1
trigeminal ganglion	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GNAS	312	ubiquitous	marker	type B pancreatic cell, postcentral gyrus, Brodmann (1909) area 46
KRAS	298	ubiquitous	marker	trigeminal ganglion, pylorus, nipple

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
KRAS	14,509
GNAS	410

Intra-cohort edges

A	B	Sources
GNAS	KRAS	intact

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
KRAS	P01116	511
GNAS	O95467	490

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 84. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Signaling by RAS GAP mutants	1	1903.3×	0.007	KRAS
Signaling by RAS GTPase mutants	1	1903.3×	0.007	KRAS
Activation of RAS in B cells	1	1142.0×	0.007	KRAS
RAS signaling downstream of NF1 loss-of-function variants	1	815.7×	0.007	KRAS
Estrogen-stimulated signaling through PRKCZ	1	815.7×	0.007	KRAS
SOS-mediated signalling	1	713.8×	0.007	KRAS
Activated NTRK3 signals through RAS	1	634.4×	0.007	KRAS
EGFR Transactivation by Gastrin	1	571.0×	0.007	KRAS
SHC-related events triggered by IGF1R	1	571.0×	0.007	KRAS
RUNX3 regulates p14-ARF	1	571.0×	0.007	KRAS
Activated NTRK2 signals through RAS	1	571.0×	0.007	KRAS
MET activates RAS signaling	1	519.1×	0.007	KRAS
Signaling by FGFR4 in disease	1	475.8×	0.007	KRAS
Activated NTRK2 signals through FRS2 and FRS3	1	475.8×	0.007	KRAS
Constitutive Signaling by Overexpressed ERBB2	1	475.8×	0.007	KRAS
p38MAPK events	1	439.2×	0.007	KRAS
Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants	1	439.2×	0.007	KRAS
Signaling by PDGFRA extracellular domain mutants	1	439.2×	0.007	KRAS
PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases	1	407.9×	0.007	KRAS
GRB2 events in EGFR signaling	1	380.7×	0.007	KRAS
Erythropoietin activates RAS	1	380.7×	0.007	KRAS
Signaling by FLT3 ITD and TKD mutants	1	380.7×	0.007	KRAS
SHC1 events in ERBB4 signaling	1	356.9×	0.007	KRAS
SHC1 events in EGFR signaling	1	356.9×	0.007	KRAS
Constitutive Signaling by EGFRvIII	1	356.9×	0.007	KRAS
PKA activation in glucagon signalling	1	335.9×	0.007	GNAS
Signalling to RAS	1	335.9×	0.007	KRAS
Insulin receptor signalling cascade	1	335.9×	0.007	KRAS
Signaling by ERBB2 ECD mutants	1	335.9×	0.007	KRAS
GRB2 events in ERBB2 signaling	1	317.2×	0.007	KRAS

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
female pregnancy	2	210.7×	0.001	GNAS, KRAS
response to mineralocorticoid	1	8426.0×	0.004	KRAS
forebrain astrocyte development	1	2808.7×	0.004	KRAS
adenylate cyclase-activating G protein-coupled bile acid receptor signaling pathway	1	2808.7×	0.004	GNAS
response to isolation stress	1	2106.5×	0.004	KRAS
response to parathyroid hormone	1	2106.5×	0.004	GNAS
adenylate cyclase-activating serotonin receptor signaling pathway	1	1685.2×	0.004	GNAS
hair follicle placode formation	1	1685.2×	0.004	GNAS
response to gravity	1	1404.3×	0.004	KRAS
regulation of skeletal muscle contraction	1	1404.3×	0.004	GNAS
cellular response to catecholamine stimulus	1	1203.7×	0.005	GNAS
adenylate cyclase-activating dopamine receptor signaling pathway	1	766.0×	0.005	GNAS
intracellular transport	1	766.0×	0.005	GNAS
type I pneumocyte differentiation	1	766.0×	0.005	KRAS
response to prostaglandin E	1	702.2×	0.005	GNAS
myoblast proliferation	1	702.2×	0.005	KRAS
positive regulation of cellular senescence	1	648.1×	0.005	KRAS
negative regulation of epithelial cell differentiation	1	601.9×	0.005	KRAS
adenylate cyclase-activating adrenergic receptor signaling pathway	1	601.9×	0.005	GNAS
activation of adenylate cyclase activity	1	561.7×	0.005	GNAS
sensory perception of chemical stimulus	1	561.7×	0.005	GNAS
negative regulation of multicellular organism growth	1	561.7×	0.005	GNAS
regulation of synaptic transmission, GABAergic	1	526.6×	0.005	KRAS
regulation of long-term neuronal synaptic plasticity	1	495.6×	0.005	KRAS
striated muscle cell differentiation	1	495.6×	0.005	KRAS
glial cell proliferation	1	443.5×	0.005	KRAS
epithelial tube branching involved in lung morphogenesis	1	421.3×	0.005	KRAS
cellular response to glucagon stimulus	1	421.3×	0.005	GNAS
cellular response to prostaglandin E stimulus	1	421.3×	0.005	GNAS
developmental growth	1	366.4×	0.005	GNAS

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): Amoxicillin, Capecitabine, Clarithromycin, Lansoprazole.

Drug target analysis

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

Druggability breadth: 2 of 2 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
KRAS	VEMURAFENIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
KRAS	11	4
GNAS	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
VEMURAFENIB	4	KRAS
DABRAFENIB	4	KRAS
LONAFARNIB	4	KRAS
SOTORASIB	4	KRAS
ADAGRASIB	4	KRAS
OPNURASIB	3	KRAS
DIVARASIB	2	KRAS
GLECIRASIB	2	KRAS
BMS-214662	1	KRAS
LY-3009120	1	KRAS
MRTX-1133	1	KRAS

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
KRAS	861	Binding:829, Functional:32

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
KRAS	3.6.5.2	small monomeric GTPase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
KRAS	861

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

11 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.

Compound	Max phase	Cohort target (bioactivity)
VEMURAFENIB	4	KRAS
DABRAFENIB	4	KRAS
LONAFARNIB	4	KRAS
SOTORASIB	4	KRAS
ADAGRASIB	4	KRAS
OPNURASIB	3	KRAS
DIVARASIB	2	KRAS
GLECIRASIB	2	KRAS
BMS-214662	1	KRAS
LY-3009120	1	KRAS
MRTX-1133	1	KRAS

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	KRAS
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	GNAS

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)
GNAS	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 30.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	16
PHASE2	8
PHASE1	4
PHASE3	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06513065	PHASE3	RECRUITING	Study to Evaluate the Non-inferiority of Low-dose HIPEC Versus High-dose HIPEC in the Treatment of PMP (HIPEC-PMP)
NCT02387203	PHASE2	ACTIVE_NOT_RECRUITING	Antibiotic Treatment and Long-term Outcomes of Patients With Pseudomyxoma Peritonei of Appendiceal Origin
NCT02834013	PHASE2	ACTIVE_NOT_RECRUITING	Nivolumab and Ipilimumab in Treating Patients With Rare Tumors
NCT06084780	PHASE2	NOT_YET_RECRUITING	Intestinal & Multivisceral Transplantation for Unresectable Mucinous Carcinoma Peritonei (TRANSCAPE)
NCT06800391	PHASE2	RECRUITING	Metronomic Neoadjuvant Capecitabine and Cyclophosphamide in HUGE Pseudomyxoma Peritonei Patients
NCT02040142	PHASE2	COMPLETED	HIPEC for Peritoneal Carcinomatosis
NCT02949791	PHASE2	COMPLETED	HIPEC Using High Intra-abdominal Pressure
NCT03976973	PHASE2	UNKNOWN	BromAc for Recurrent Peritoneal Mucinous Tumour or Pseudomyxoma Peritonei
NCT05321329	PHASE2	UNKNOWN	Adjuvant CAPECITABINE in High Risk PSEUDOMYXOMA PERITONEI Patients
NCT01652794	PHASE1	COMPLETED	Carboplatin, Gemcitabine Hydrochloride, and Stereotactic Body Radiation Therapy in Gynecological Cancer
NCT04088786	PHASE1	COMPLETED	Phase I Trial HIPEC With Nal-irinotecan
NCT04665921	PHASE1	TERMINATED	A Study of SGN-STNV in Advanced Solid Tumors
NCT04982146	PHASE1	UNKNOWN	Intratumoral Bromelain + Acetylcysteine in Relapsed and Unresectable Pseudomyxoma Peritonei
NCT07341360	EARLY_PHASE1	RECRUITING	Pseudovax - A Cancer Vaccine for Patients With Pseudomyxoma Peritonei
NCT01617382	Not specified	RECRUITING	Register With Patients in Which Hyperthermic Intra-Peritoneal Chemotherapy (HIPEC) Was Performed
NCT02073500	Not specified	RECRUITING	Peritoneal Surface Malignancies - Characterization, Models and Treatment Strategies
NCT04024917	Not specified	RECRUITING	Impact of Cardiac Coherence on Anxiety in Patients Operated on for a Peritoneal Carcinosis
NCT07328737	Not specified	RECRUITING	One vs Three HIPEC Cycles After CRS for Pseudomyxoma Peritonei
NCT07378371	Not specified	NOT_YET_RECRUITING	Proactive Temperature Management in CRS-HIPEC for Prevention of Delirium
NCT01126346	Not specified	COMPLETED	Quality of Life and Survivorship Care in Patients Undergoing Hyperthermic Intraperitoneal Chemotherapy (HIPEC)
NCT01427101	Not specified	UNKNOWN	Results of CRS and Debulking in PMP Patients
NCT01764789	Not specified	COMPLETED	Stress Reduction in Improving Quality of Life in Patients With Recurrent Gynecologic or Breast Cancer
NCT02374411	Not specified	COMPLETED	Knowledge, Attitudes, and Practice of Surgeons Toward Nutrition Support in HIPEC Patients
NCT02599116	Not specified	UNKNOWN	Gastrointestinal Microbiome Study of Appendiceal Cancer
NCT02834169	Not specified	UNKNOWN	French National Registry of Rare Peritoneal Surface Malignancies
NCT03034850	Not specified	COMPLETED	Thrombin Generation and Platelet Activation in CRS/HIPEC
NCT03210298	Not specified	UNKNOWN	International Registry of Patients Treated With Pressurized IntraPeritoneal Aerosol Chemotherapy (PIPAC)
NCT04125225	Not specified	WITHDRAWN	What Are the Experiences of Patients With Pseudomyxoma Peritonei?
NCT05513183	Not specified	COMPLETED	Severe Neutropenia After HIPEC Using Mitomycin-C
NCT06839378	Not specified	COMPLETED	Flura-seq for Evaluating the Effects of Different Hyperthermic Intraperitoneal Chemotherapy Regimens on the Transcriptome of Pseudomyxoma Peritonei

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BROMELAINS	4	2
MITOMYCIN	4	2
MOLGRAMOSTIM	3	1
CHEMBL4071382	0	2
CHEMBL5175144	0	2