ORPHA:99885
Isolated permanent neonatal diabetes mellitus
Also known as: Isolated PNDM
Publications
61
45.7th percentile
Trials
2
Interventional, condition-specific
Researchers
387
Distinct authors in sample
Gene link
ABCC8, GATA4, HNF1B
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Permanent diabetes mellitus (PNDM) is a monogenic form of diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0100164
- MeSH:C563425
- UMLS:C1833104
- NCIT:C114902
Additional Mondo synonyms (2)
PNDM · monogenic diabetes of infancy
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.
- Gene identifiedPresent
Strong — ABCC8, GATA4, HNF1B, INS, MNX1…
- LiteraturePresent
61 matched papers (33 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
2 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 (ABCC8, GATA4, HNF1B…).
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?
61
61 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.
61 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).
33 in the last 10 years · medium confidence · 45.7th percentile (publications denominator)
Phrase hits: 46 · MeSH hits: 15
Who's working on it?
387
Distinct author names in 61 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.
- 01Ellard S11 papers · 2022
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.
Papers in Europe PMC - 02Hattersley AT8 papers · 2022
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK. Electronic address: a.t.hattersley@exeter.ac.uk.
Papers in Europe PMC - 03Barbetti F7 papers · 2024
San Raffaele Biomedical Park Foundation and Bambino Gesù Pediatric Hospital and Department of Internal Medicine, University of Tor Vergata, Rome, Italy.
Papers in Europe PMC - 04De Franco E7 papers · 2025
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.
Papers in Europe PMC - 05Flanagan SE7 papers · 2023
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.
Papers in Europe PMC - 06Rubio-Cabezas O5 papers · 2014
Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK.
Papers in Europe PMC - 07Colombo C4 papers · 2012
Laboratory of Molecular Endocrinology and Metabolism, Bambino Gesù Children's Hospital, Scientific Institute and Department of Internal Medicine, University of Tor Vergata, Rome, Italy.
Papers in Europe PMC - 08Iafusco D4 papers · 2012
Department of Pediatrics, Second University of Naples, Italy.
Papers in Europe PMC - 09Bonfanti R3 papers · 2012
Department of Pediatrics, San Raffaele Hospital and Scientific Institute, Milan, Italy.
Papers in Europe PMC - 10Deeb A3 papers · 2024
Pediatric Endocrine Division, Sheikh Shakhbout Medical City and College of Medicine and Health Science, Khalifa University, Abu Dhabi, UAE.
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; none in our sample are currently recruiting. 2 trials are registered for neonatal diabetes mellitus, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: neonatal diabetes mellitus
2
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26This 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.
"Isolated permanent neonatal diabetes mellitus" OR "Isolated PNDM" OR "monogenic diabetes of infancy" OR "monogenic diabetes of the infancy"
MeSH descriptor terms unioned into the query: Diabetes Mellitus, Permanent Neonatal
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated permanent neonatal diabetes mellitus" OR "Isolated PNDM" OR "monogenic diabetes of infancy" OR "monogenic diabetes of the infancy" OR "Diabetes Mellitus, Permanent Neonatal" OR "ABCC8" OR "GATA4" OR "HNF1B" OR "INS" OR "MNX1" OR "NEUROG3" OR "PDX1" OR "PTF1A" OR "SLC2A2"
Recall-expansion terms: ABCC8, GATA4, HNF1B, INS, MNX1, NEUROG3, PDX1, PTF1A, SLC2A2
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.
Parent-category trials query:
"neonatal diabetes mellitus"
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: PNDM
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 2026-07-27T06:29:25.622Z