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ORPHA:552

MODY

low confidenceDisorder

Also known as: Maturity-onset diabetes of the young

Publications

16,788

Trials

14

Interventional, condition-specific

Researchers

1,179

Distinct authors in sample

Gene link

ABCC8

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

maturity onset diabetes of the young · maturity-onset diabetes of the young · maturity-onset diabetes of the young (disease)

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

    Strong — ABCC8

  2. LiteraturePresent

    16,788 matched papers (9,118 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

    14 matched on ClinicalTrials.gov (3 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 (ABCC8).

GenCC classification: Strong.

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?

16,788

16,788 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=5449) is 41.

16,788 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).

9,118 in the last 10 years · low confidence

Phrase hits: 16,788 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,179

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
    Chen S6 papers · 2026

    Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, China.

    Papers in Europe PMC
  2. 02
    Chen Y6 papers · 2026

    School of Life Sciences, Zhejiang Chinese Medical University, Hangzhou, 310053, China. cytworld@163.com.

    Papers in Europe PMC
  3. 03
    Colclough K6 papers · 2026

    Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.

    Papers in Europe PMC
  4. 04
    Fan Y5 papers · 2026

    Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, China.

    Papers in Europe PMC
  5. 05
    Patel KA5 papers · 2026

    Department of Clinical and Biomedical Science, University of Exeter, Exeter, U.K.

    Papers in Europe PMC
  6. 06
    Deng L4 papers · 2026

    Division of Endocrinology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.

    Papers in Europe PMC
  7. 07
    Hattersley AT4 papers · 2026

    Department of Clinical and Biomedical Science, University of Exeter, Exeter, U.K.

    Papers in Europe PMC
  8. 08
    Huang Y4 papers · 2026

    Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin, China.

    Papers in Europe PMC
  9. 09
    Krishnamurthy M4 papers · 2026

    Division of Endocrinology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.

    Papers in Europe PMC
  10. 10
    Laver TW4 papers · 2026

    Department of Clinical and Biomedical Science, University of Exeter, Exeter, U.K.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

14

interventional trials for this specific condition

14 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

14 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.1th percentile).

low confidence · 93.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

11 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.

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.

"MODY" OR "Maturity-onset diabetes of the young" OR "Maturity-onset diabetes of young" OR "maturity onset diabetes of the young" OR "maturity onset diabetes of young" OR "maturity-onset diabetes of the young (disease)" OR "maturity-onset diabetes of young (disease)"

Run this search on Europe PMC

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

"MODY" OR "Maturity-onset diabetes of the young" OR "Maturity-onset diabetes of young" OR "maturity onset diabetes of the young" OR "maturity onset diabetes of young" OR "maturity-onset diabetes of the young (disease)" OR "maturity-onset diabetes of young (disease)" OR "ABCC8"

Recall-expansion terms: ABCC8

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: 14 interventional · 11 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MODY

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:19:39.144Z