RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:65288

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

low confidenceDisorder

Also known as: Pancreatic and cerebellar agenesis

Publications

12,888

Trials

0

Interventional, condition-specific

Researchers

356

Distinct authors in sample

Gene link

NEUROD1, PTF1A

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurologic disease characterized by diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the period.

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)

pancreatic and cerebellar agenesis

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — NEUROD1, PTF1A

  2. LiteraturePresent

    12,888 matched papers (9,196 in last 10 years) Source

  3. Phenotype characterisedPresent

    34 HPO annotations (e.g. Aplasia/Hypoplasia of the pancreas; Short chin; Low-set ears) Source

  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 trialPartial

    None under the specific name; 3 for broader category neonatal diabetes mellitus

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 (NEUROD1, PTF1A).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

34

Associated phenotypes · MONDO:0012192

  • Aplasia/Hypoplasia of the pancreas
  • Short chin
  • Low-set ears
  • Cerebellar hypoplasia
  • Triangular face

Showing 5 of 34 — open Monarch for the full list.

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

12,888

12,888 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.

12,888 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).

9,196 in the last 10 years · low confidence

Phrase hits: 48 · MeSH hits: 14

Open Europe PMC search

Who's working on it?

356

Distinct author names in 62 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    De Franco E4 papers · 2025

    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.

    Papers in Europe PMC
  2. 02
    Flanagan SE3 papers · 2025

    Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.

    Papers in Europe PMC
  3. 03
    Hattersley AT3 papers · 2025

    Institute of Biomedical & Clinical Science, University of Exeter Medical School, Exeter, U.K. a.t.hattersley@exeter.ac.uk raymond.macdonald@utsouthwestern.edu.

    Papers in Europe PMC
  4. 04
    MacDonald RJ3 papers · 2016

    Department of Molecular Biology, The University of Texas Southwestern Medical Center, Dallas, TX a.t.hattersley@exeter.ac.uk raymond.macdonald@utsouthwestern.edu.

    Papers in Europe PMC
  5. 05
    Beres TM2 papers · 2007

    Department of Molecular Biology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-9148, USA.

    Papers in Europe PMC
  6. 06
    Dobyns WB2 papers · 2011
    Papers in Europe PMC
  7. 07
    Ellard S2 papers · 2017

    Institute of Biomedical & Clinical Science, University of Exeter Medical School, Exeter, U.K.

    Papers in Europe PMC
  8. 08
    Horb ME2 papers · 2012
    Papers in Europe PMC
  9. 09
    Hu W2 papers · 2025

    Department of Pancreatic Surgery, Renmin Hospital of Wuhan University, 238 Jiefang Road, Wuhan, 430060, Hubei, China.

    Papers in Europe PMC
  10. 10
    Masui T2 papers · 2007

    Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 3 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

3 interventional trials matched neonatal diabetes mellitus, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: neonatal diabetes mellitus

3

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.

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 2026-07-30

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 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome — 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.

("Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" OR "Pancreatic and cerebellar agenesis") OR (MESH:"Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis") OR ("NEUROD1" OR "NEUROD1 syndrome" OR "NEUROD1-related" OR "PTF1A" OR "PTF1A syndrome" OR "PTF1A-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis

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

"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" OR "Pancreatic and cerebellar agenesis" OR "Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis"

Study-type breakdown: 0 interventional · 0 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; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (12888) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:17:44.463Z