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hereditary mixed polyposis syndrome (HMPS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary mixed polyposis syndrome

MONDO:0011023

Also known as:HMPS

Overview

Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Juvenile Polyposis Syndrome (JPS)

JPS is characterized by predisposition to hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. "Generalized juvenile polyposis" refers to polyps of the upper and lower GI tract. "Juvenile polyposis coli" refers to polyps of the colon only. The polyps vary in size and shape: some are flat (sessile), whereas others have a stalk (pedunculated). The number of polyps in individuals with JPS varies. Some individuals may have only four or five polyps over their lifetime; others in the same family may have more than 100. Bleeding may result from sloughing of the polyp or its surface epithelium with the passage of stool. If the polyps are left untreated, they may cause bleeding and anemia.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Juvenile polyposis syndrome (JPS) should be suspected in a proband with the following clinical and histopathologic features.

Clinical features

Anemia, rectal bleeding, or prolapse of rectal polyp
More than one juvenile polyp
One or more juvenile polyps and a family history of JPS

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for hereditary mixed polyposis syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Clinical practice guidelines for juvenile polyposis syndrome have been published . Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with juvenile polyposis syndrome (JPS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Juvenile Polyposis Syndrome

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

The surveillance recommended in is for individuals with an SMAD4 or BMPR1A pathogenic variant identified by molecular genetic testing, individuals with a clinical diagnosis of JPS, or individuals with a family history of JPS who have not undergone molecular genetic testing or whose molecular genetic test results were uninformative.

Table 6.

Recommended Surveillance for Individuals with Juvenile Polyposis Syndrome

System/Concern | Evaluation | Frequency

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hereditary mixed polyposis syndrome.

2 publications have been identified in PubMed for hereditary mixed polyposis syndrome. Research spans Diagnostic / Biomarker (50%) and Review / Meta-Analysis (50%).

Recent Publications

Ferenczi Á (2025). [PMID: 40089942](https://pubmed.ncbi.nlm.nih.gov/40089942/). *Orvosi hetilap*. [Diagnostic / Biomarker]
Jiao X (2025). [PMID: 40623939](https://pubmed.ncbi.nlm.nih.gov/40623939/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Review / Meta-Analysis]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:157794

GARD

Genetic and Rare Diseases Info Center

GARD:16981

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

GeneReviews

Differential Diagnosis

A juvenile polyp can result from genetic predisposition or chance. It should be noted that 1% to 2% of individuals in the general population develop a solitary juvenile polyp and do not meet diagnostic criteria for juvenile polyposis syndrome (JPS). Genetic predisposition syndromes characterized by the presence of polyps are summarized in . Table 3. Polyp Predisposition Syndromes in the Differential Diagnosis of Juvenile Polyposis Syndrome

Gene(s) / Genetic Mechanism	Disorder	MOI	Polyp Phenotype	Additional Characteristics
APC	Familial adenomatous polyposis (See APC-Associated Polyposis Conditions.)	AD	GI polyposis; multiple adenomatous polyps	Osteomas, dental anomalies, congenital hypertrophy of retinal pigment epithelium, desmoid tumors, thyroid cancer, risk of hepatoblastoma, medulloblastoma, other assoc cancers
AXIN2	Polyposis oligodontia (OMIM 608615)	AD	GI polyposis, adenomas	Absent teeth, colon cancer
GALNT12	Polyposis (OMIM 608812)	AD	GI polyposis, adenoma	Preliminary evidence of assoc w/colon cancer
GREM1 overexpression1	Hereditary mixed polyposis syndrome (OMIM 601228)	AD	Juvenile polyps multiple addl types of polyps: serrated, Peutz-Jeghers polyps, adenomas	Significant colorectal cancer risk MLH1 MSH2 MSH6 PMS2 EPCAM
Lynch syndrome	AD	Colorectal polyps; few adenomatous polyps	Significant colorectal cancer risk; cancers of endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, skin MLH1 MSH2 MSH6	—
PMS2	Constitutional mismatch repair deficiency (See Lynch Syndrome, Molecular Genetics.)	AR	Colorectal polyps, many early onset adenomatous polyps	Significant cancer risk starting in early childhood incl brain tumors, leukemias/lymphomas, colon cancers
MSH3	Polyposis (OMIM 617100)	AR	GI polyposis, adenomas	Colon cancer MUTYH
MUTYH-associated polyposis	AR	GI polyposis; multiple colonic adenomatous polyps; duodenal adenomas; additional types of polyps: serrated, hyperplastic/sessile serrated, mixed	Significant colorectal cancer risk; cancers of duodenum, stomach, ovary, bladder	—
NTHL1	Polyposis (OMIM 616415)	AR	GI polyposis, adenomas	Colon cancer PTCH1 SUFU
Nevoid basal cell carcinoma syndrome	AD	Gastric polyps	Multiple jaw keratocysts, basal cell carcinoma, macrocephaly, frontal bossing, coarse facial features, facial milia PTEN	—
PTEN hamartoma tumor syndrome	AD	Variable polyp types, mainly hamartomatous polyps incl juvenile polyps, also tubular adenomas, ganglioneuromas, serrated polyps	Benign malignant tumors of thyroid, breast, endometrium; vascular malformations; ASD, DD; macrocephaly, trichilemmomas, papillomatous papules, lipomas, pigmented macules of glans penis	—
RNF43	Serrated polyposis syndrome (OMIM 617108)	AD	GI polyposis, hyperplastic, sessile ...	—

Source: GeneReviews — "Juvenile Polyposis Syndrome"

System/Concern	Evaluation	Comment
Gastrointestinal	Assess for abdominal pain, rectal bleeding, constipation, diarrhea, or change in stool size, shape, /or color.	At diagnosis; Complete blood count; Colonoscopy; Upper endoscopy
counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of JPS to facilitate medical personal decision making HHT = hereditary hemorrhagic telangiectasia; MOI = mode of inheritance 1.
Treatment of Manifestations in Individuals with Juvenile Polyposis Syndrome Manifestation/Concern	Treatment	Considerations/Other
GI polyps	Colonoscopy w/endoscopic polypectomy	To morbidity by risk for cancer, bleeding, or intestinal obstruction; Partial or total gastrectomy; Partial or total colectomy (subtotal colectomy w/ileorectal anastomosis or proctocolectomy w/ileoanal pouch)1
GI bleeding	See Hereditary Hemorrhagic Telangiectasia, Management.	In those w/SMAD4 pathogenic variant Epistaxis AVMs/ Aortopathy/ Valvular disease
Recommended Surveillance for Individuals with Juvenile Polyposis Syndrome System/Concern	Evaluation	Frequency
Gastrointestinal	Assess for rectal bleeding, anemia, abdominal pain, constipation, diarrhea, or change in stool size, shape, /or color.	At each visit Complete blood count

Kisho

hereditary mixed polyposis syndrome

Overview

Clinical Presentation

Clinical Guidance

Juvenile Polyposis Syndrome (JPS)

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Hematologic / Cardiovascular

hereditary mixed polyposis syndrome

Overview

Clinical Presentation

Clinical Guidance

Juvenile Polyposis Syndrome (JPS)

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Hematologic / Cardiovascular