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ORPHA:157794

Hereditary mixed polyposis syndrome

medium confidenceDisorder

Also known as: HMPS

Publications

328

77.3th percentile

Trials

2

Interventional, condition-specific

Researchers

1,324

Distinct authors in sample

Gene link

GREM1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

mixed polyposis syndrome (HMPS) describes an 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.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

hereditary mixed polyposis syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — GREM1

  2. LiteraturePresent

    328 matched papers (183 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (GREM1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

328

328 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

328 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

183 in the last 10 years · medium confidence · 77.3th percentile (publications denominator)

Phrase hits: 328 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,324

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Zignego AL10 papers · 2026

    Medicina Interna, University of Florence, Florence, Italy.

    Papers in Europe PMC
  2. 02
    Ferri C8 papers · 2026

    Rheumatology Unit, Department of Internal Medicine, University of Modena e Reggio Emilia, Medical School, Via del Pozzo 71, Modena, Italy. clferri@unimore.it

    Papers in Europe PMC
  3. 03
    Gragnani L7 papers · 2026

    MASVE Interdepartmental Hepatology Center, Department of Experimental and clinical Medicine, University of Florence, Center for Research and Innovation CRIA-MASVE, AOU Careggi, Florence, Italy.

    Papers in Europe PMC
  4. 04
    De Vita S6 papers · 2023

    Clinic of Rheumatology, DPMSC, Azienda Ospedale Universitario S. Maria della Misericordia, Udine, Italy. devita.salvatore@aoud.sanita.fvg.it

    Papers in Europe PMC
  5. 05
    Mazzaro C6 papers · 2023

    Clinical Experimental Onco-Haematology Unit, Centro di Riferimento Oncologico di Aviano (CRO) IRCCS, 33081, Aviano, Italy.

    Papers in Europe PMC
  6. 06
    Quartuccio L6 papers · 2023

    Unit of Rheumatology, Department of Medicine (DAME), University of Udine, ASUFC, Udine, Italy. luca.quartuccio@uniud.it.

    Papers in Europe PMC
  7. 07
    Cheah PY5 papers · 2015

    Department of Colorectal Surgery, Singapore General Hospital, Singapore. cheah.peh.yean@sgh.com.sg

    Papers in Europe PMC
  8. 08
    Durno C5 papers · 2026

    The Hospital for Sick Children, Toronto, Canada.

    Papers in Europe PMC
  9. 09
    Galli M5 papers · 2023

    Infectious Disease Unit, L. Sacco, Department of Clinical Sciences, University of Milan, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Giuggioli D5 papers · 2026

    Department of Internal Medicine, Rheumatology Unit, University of Modena and Reggio Emilia, Modena, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Hereditary mixed polyposis syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Polyposis Syndrome, Hereditary Mixed, 1

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hereditary mixed polyposis syndrome" OR "Polyposis Syndrome, Hereditary Mixed, 1" OR "GREM1"

Recall-expansion terms: GREM1

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HMPS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T07:59:20.638Z