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ORPHA:26106

Hereditary diffuse gastric cancer

low confidenceDisorder

Also known as: FDGC · Familial diffuse cancer of stomach · Familial diffuse gastric cancer · HDGC · Hereditary diffuse cancer of stomach · Hereditary diffuse gastric adenocarcinoma

Publications

79,314

Trials

3

Interventional, condition-specific

Researchers

1,345

Distinct authors in sample

Gene link

CDH1, IL1B

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

familial diffuse cancer of stomach · familial diffuse gastric cancer · hereditary diffuse cancer of stomach · hereditary diffuse gastric adenocarcinoma · hereditary diffuse gastric cancer

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 — CDH1, IL1B

  2. LiteraturePresent

    79,314 matched papers (49,917 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov

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 (CDH1, IL1B).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0007648

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

79,314

79,314 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

79,314 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

49,917 in the last 10 years · low confidence

Phrase hits: 1,624 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,345

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
    Davis JL17 papers · 2025

    Surgical Oncology Program, Center for Cancer Research, NCI, NIH, Bethesda, Maryland.

    Papers in Europe PMC
  2. 02
    Fitzgerald RC10 papers · 2026

    Early Cancer Institute, University of Cambridge, Cambridge, UK.

    Papers in Europe PMC
  3. 03
    Oliveira C10 papers · 2026

    Instituto de Investigação e Inovação em Saúde & Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.

    Papers in Europe PMC
  4. 04
    Di Pietro M9 papers · 2026

    Early Cancer Institute, University of Cambridge, Cambridge, CB2 0XZ, UK. md460@cam.ac.uk.

    Papers in Europe PMC
  5. 05
    Gallanis AF9 papers · 2025

    Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, United States.

    Papers in Europe PMC
  6. 06
    Gamble LA9 papers · 2025

    Surgical Oncology Program, Center for Cancer Research, NCI, NIH, Bethesda, Maryland.

    Papers in Europe PMC
  7. 07
    Corso G7 papers · 2025

    Division of Breast Surgery, IEO European Institute of Oncology, IRCCS, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Heller T7 papers · 2025

    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  9. 09
    Magnoni F7 papers · 2025

    Division of Breast Surgery, IEO European Institute of Oncology, IRCCS, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Samaranayake SG7 papers · 2025

    Surgical Oncology Program, Center for Cancer Research, NCI, NIH, Bethesda, Maryland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

3 observational studies match 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Hereditary diffuse gastric cancer — check Associations / patient organisations on that page.

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 diffuse gastric cancer" OR "Familial diffuse cancer of stomach" OR "Familial diffuse cancer of the stomach" OR "Familial diffuse gastric cancer" OR "Hereditary diffuse cancer of stomach" OR "Hereditary diffuse cancer of the stomach" OR "Hereditary diffuse gastric adenocarcinoma") OR ("IL1B" OR "IL1B syndrome" OR "IL1B-related")

Run this search on Europe PMC

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

"Hereditary diffuse gastric cancer" OR "Familial diffuse cancer of stomach" OR "Familial diffuse cancer of the stomach" OR "Familial diffuse gastric cancer" OR "Hereditary diffuse cancer of stomach" OR "Hereditary diffuse cancer of the stomach" OR "Hereditary diffuse gastric adenocarcinoma"

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

Study-type breakdown: 3 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FDGC; HDGC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (79314) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T23:20:04.905Z