ORPHA:65288
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Also known as: Pancreatic and cerebellar agenesis
Publications
62
46.2th percentile
Trials
0
Interventional, condition-specific
Researchers
356
Distinct authors in sample
Gene link
NEUROD1, PTF1A
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012192
- MeSH:C563796
- OMIM:609069
- UMLS:C1836780
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — NEUROD1, PTF1A
- LiteraturePresent
62 matched papers (34 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 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)
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?
62
62 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.
62 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).
34 in the last 10 years · high confidence · 46.2th percentile (publications denominator)
Phrase hits: 48 · MeSH hits: 14
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.
- 01De Franco E4 papers · 2025
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.
Papers in Europe PMC - 02Flanagan SE3 papers · 2025
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.
Papers in Europe PMC - 03Hattersley 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 - 04MacDonald 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 - 05Beres 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 - 06Dobyns WB2 papers · 2011Papers in Europe PMC
- 07Ellard S2 papers · 2017
Institute of Biomedical & Clinical Science, University of Exeter Medical School, Exeter, U.K.
Papers in Europe PMC - 08Horb ME2 papers · 2012Papers in Europe PMC
- 09Hu W2 papers · 2025
Department of Pancreatic Surgery, Renmin Hospital of Wuhan University, 238 Jiefang Road, Wuhan, 430060, Hubei, China.
Papers in Europe PMC - 10Masui 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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.
"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" OR "Pancreatic and cerebellar agenesis"
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" OR "NEUROD1" OR "PTF1A"
Recall-expansion terms: NEUROD1, PTF1A
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, recall-expansion; 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
Ingested 2026-07-27T01:17:44.463Z