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ORPHA:79118

Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome

low confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

12,172

Trials

0

Interventional, condition-specific

Researchers

193

Distinct authors in sample

Gene link

GLIS3, IL2RA

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic disease characterized by intrauterine growth retardation, permanent diabetes mellitus, and hypothyroidism. Additional manifestations include glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, , and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others.

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 (2)

NDH syndrome · neonatal diabetes mellitus with congenital hypothyroidism

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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — GLIS3, IL2RA

  2. LiteraturePresent

    12,172 matched papers (8,722 in last 10 years) Source

  3. Phenotype characterisedPresent

    37 HPO annotations (e.g. Diabetes mellitus; Congenital hypothyroidism; Recurrent infections) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (GLIS3, IL2RA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

37

Associated phenotypes · MONDO:0012436

  • Diabetes mellitus
  • Congenital hypothyroidism
  • Recurrent infections
  • Pancreatic hypoplasia
  • Pancreatic cysts

Showing 5 of 37 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

12,172

12,172 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.

12,172 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).

8,722 in the last 10 years · low confidence

Phrase hits: 27 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

193

Distinct author names in 27 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 · 2021

    Department of Paediatric Endocrinology (P.D.), Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, United Kingdom; Paediatric Department (A.M.H.), Prince Mohamed Bin Abdulaziz Hospital, National Guard Health Authority, Al-Madinah, Riyadh 14214, Kingdom of Saudi Arabia; Ankara Pediatric Hematology Oncology Education and Training Hospital (F.G.), Ankara, Turkey; Diabetes Clinical Research Centre (A.M.), Plymouth Hospitals NHS Trust, Derriford PL6 8DH, United Kingdom; Department of Paediatrics (S.W.), Bradford Teaching Hospitals NHS Foundation Trust, Bradford, West Yorkshire BD9 6RJ, United Kingdom; Paediatric Department (K.M.), Maternity and Children Hospital, Jeddah 23342, Kingdom of Saudi Arabia; Kanuni Sultan Süleyman Education and Research Hospital (T.A.), 34303 Küçükçekmece, Istanbul, Turkey; Division of Pediatric Endocrinology (D.T.), Children's Hospital of Michigan, Wayne State University, Detroit, Michigan 48201; Department of Paediatrics (J.J.), Madigan Army Medical Center, Tacoma, Washington 98431; Institute for Human Genetics (A.S.), University of California, San Francisco, California 94143; Department of Paediatric Endocrinology and Diabetes (J.K.H.W.), Lady Cilento Children's Hospital, South Brisbane, Queensland 4101, Australia; Department of Paediatrics (A.S.), Nevill Hall Hospital, Abergavenny NP7 7EG, Wales, United Kingdom; Department of Paediatrics (D.H.), Royal Gwent Hospital, Newport NP20 2UB Wales, United Kingdom; and Institute of Biomedical and Clinical Science (A.T.H., S.E., E.D.F.), University of Exeter Medical School, EX2 5DW, United Kingdom.

    Papers in Europe PMC
  2. 02
    Marelli F3 papers · 2025

    Dipartimento di Malattie Endocrine e del Metabolismo, IRCCS Istituto Auxologico Italiano IRCCS, Milan, Italy.

    Papers in Europe PMC
  3. 03
    Persani L3 papers · 2025

    Dipartimento di Malattie Endocrine e del Metabolismo, IRCCS Istituto Auxologico Italiano IRCCS, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Rurale G3 papers · 2025

    Dipartimento di Malattie Endocrine e del Metabolismo, IRCCS Istituto Auxologico Italiano IRCCS, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Taha D3 papers · 2016

    Department of Paediatric Endocrinology (P.D.), Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, United Kingdom; Paediatric Department (A.M.H.), Prince Mohamed Bin Abdulaziz Hospital, National Guard Health Authority, Al-Madinah, Riyadh 14214, Kingdom of Saudi Arabia; Ankara Pediatric Hematology Oncology Education and Training Hospital (F.G.), Ankara, Turkey; Diabetes Clinical Research Centre (A.M.), Plymouth Hospitals NHS Trust, Derriford PL6 8DH, United Kingdom; Department of Paediatrics (S.W.), Bradford Teaching Hospitals NHS Foundation Trust, Bradford, West Yorkshire BD9 6RJ, United Kingdom; Paediatric Department (K.M.), Maternity and Children Hospital, Jeddah 23342, Kingdom of Saudi Arabia; Kanuni Sultan Süleyman Education and Research Hospital (T.A.), 34303 Küçükçekmece, Istanbul, Turkey; Division of Pediatric Endocrinology (D.T.), Children's Hospital of Michigan, Wayne State University, Detroit, Michigan 48201; Department of Paediatrics (J.J.), Madigan Army Medical Center, Tacoma, Washington 98431; Institute for Human Genetics (A.S.), University of California, San Francisco, California 94143; Department of Paediatric Endocrinology and Diabetes (J.K.H.W.), Lady Cilento Children's Hospital, South Brisbane, Queensland 4101, Australia; Department of Paediatrics (A.S.), Nevill Hall Hospital, Abergavenny NP7 7EG, Wales, United Kingdom; Department of Paediatrics (D.H.), Royal Gwent Hospital, Newport NP20 2UB Wales, United Kingdom; and Institute of Biomedical and Clinical Science (A.T.H., S.E., E.D.F.), University of Exeter Medical School, EX2 5DW, United Kingdom.

    Papers in Europe PMC
  6. 06
    Dimitri P2 papers · 2016

    Department of Paediatric Endocrinology (P.D.), Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, United Kingdom; Paediatric Department (A.M.H.), Prince Mohamed Bin Abdulaziz Hospital, National Guard Health Authority, Al-Madinah, Riyadh 14214, Kingdom of Saudi Arabia; Ankara Pediatric Hematology Oncology Education and Training Hospital (F.G.), Ankara, Turkey; Diabetes Clinical Research Centre (A.M.), Plymouth Hospitals NHS Trust, Derriford PL6 8DH, United Kingdom; Department of Paediatrics (S.W.), Bradford Teaching Hospitals NHS Foundation Trust, Bradford, West Yorkshire BD9 6RJ, United Kingdom; Paediatric Department (K.M.), Maternity and Children Hospital, Jeddah 23342, Kingdom of Saudi Arabia; Kanuni Sultan Süleyman Education and Research Hospital (T.A.), 34303 Küçükçekmece, Istanbul, Turkey; Division of Pediatric Endocrinology (D.T.), Children's Hospital of Michigan, Wayne State University, Detroit, Michigan 48201; Department of Paediatrics (J.J.), Madigan Army Medical Center, Tacoma, Washington 98431; Institute for Human Genetics (A.S.), University of California, San Francisco, California 94143; Department of Paediatric Endocrinology and Diabetes (J.K.H.W.), Lady Cilento Children's Hospital, South Brisbane, Queensland 4101, Australia; Department of Paediatrics (A.S.), Nevill Hall Hospital, Abergavenny NP7 7EG, Wales, United Kingdom; Department of Paediatrics (D.H.), Royal Gwent Hospital, Newport NP20 2UB Wales, United Kingdom; and Institute of Biomedical and Clinical Science (A.T.H., S.E., E.D.F.), University of Exeter Medical School, EX2 5DW, United Kingdom.

    Papers in Europe PMC
  7. 07
    Gurbuz F2 papers · 2016

    Ankara Pediatric Hematology Oncology Education and Training Hospital, Ankara, Turkey.

    Papers in Europe PMC
  8. 08
    Habeb AM2 papers · 2016

    Department of Paediatric Endocrinology (P.D.), Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, United Kingdom; Paediatric Department (A.M.H.), Prince Mohamed Bin Abdulaziz Hospital, National Guard Health Authority, Al-Madinah, Riyadh 14214, Kingdom of Saudi Arabia; Ankara Pediatric Hematology Oncology Education and Training Hospital (F.G.), Ankara, Turkey; Diabetes Clinical Research Centre (A.M.), Plymouth Hospitals NHS Trust, Derriford PL6 8DH, United Kingdom; Department of Paediatrics (S.W.), Bradford Teaching Hospitals NHS Foundation Trust, Bradford, West Yorkshire BD9 6RJ, United Kingdom; Paediatric Department (K.M.), Maternity and Children Hospital, Jeddah 23342, Kingdom of Saudi Arabia; Kanuni Sultan Süleyman Education and Research Hospital (T.A.), 34303 Küçükçekmece, Istanbul, Turkey; Division of Pediatric Endocrinology (D.T.), Children's Hospital of Michigan, Wayne State University, Detroit, Michigan 48201; Department of Paediatrics (J.J.), Madigan Army Medical Center, Tacoma, Washington 98431; Institute for Human Genetics (A.S.), University of California, San Francisco, California 94143; Department of Paediatric Endocrinology and Diabetes (J.K.H.W.), Lady Cilento Children's Hospital, South Brisbane, Queensland 4101, Australia; Department of Paediatrics (A.S.), Nevill Hall Hospital, Abergavenny NP7 7EG, Wales, United Kingdom; Department of Paediatrics (D.H.), Royal Gwent Hospital, Newport NP20 2UB Wales, United Kingdom; and Institute of Biomedical and Clinical Science (A.T.H., S.E., E.D.F.), University of Exeter Medical School, EX2 5DW, United Kingdom.

    Papers in Europe PMC
  9. 09
    Hogue J2 papers · 2016

    Department of Paediatric Endocrinology (P.D.), Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, United Kingdom; Paediatric Department (A.M.H.), Prince Mohamed Bin Abdulaziz Hospital, National Guard Health Authority, Al-Madinah, Riyadh 14214, Kingdom of Saudi Arabia; Ankara Pediatric Hematology Oncology Education and Training Hospital (F.G.), Ankara, Turkey; Diabetes Clinical Research Centre (A.M.), Plymouth Hospitals NHS Trust, Derriford PL6 8DH, United Kingdom; Department of Paediatrics (S.W.), Bradford Teaching Hospitals NHS Foundation Trust, Bradford, West Yorkshire BD9 6RJ, United Kingdom; Paediatric Department (K.M.), Maternity and Children Hospital, Jeddah 23342, Kingdom of Saudi Arabia; Kanuni Sultan Süleyman Education and Research Hospital (T.A.), 34303 Küçükçekmece, Istanbul, Turkey; Division of Pediatric Endocrinology (D.T.), Children's Hospital of Michigan, Wayne State University, Detroit, Michigan 48201; Department of Paediatrics (J.J.), Madigan Army Medical Center, Tacoma, Washington 98431; Institute for Human Genetics (A.S.), University of California, San Francisco, California 94143; Department of Paediatric Endocrinology and Diabetes (J.K.H.W.), Lady Cilento Children's Hospital, South Brisbane, Queensland 4101, Australia; Department of Paediatrics (A.S.), Nevill Hall Hospital, Abergavenny NP7 7EG, Wales, United Kingdom; Department of Paediatrics (D.H.), Royal Gwent Hospital, Newport NP20 2UB Wales, United Kingdom; and Institute of Biomedical and Clinical Science (A.T.H., S.E., E.D.F.), University of Exeter Medical School, EX2 5DW, United Kingdom.

    Papers in Europe PMC
  10. 10
    Li L2 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    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).

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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys 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.

("Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome" OR "NDH syndrome" OR "neonatal diabetes mellitus with congenital hypothyroidism") OR (MESH:"Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism") OR ("GLIS3" OR "GLIS3 syndrome" OR "GLIS3-related" OR "IL2RA" OR "IL2RA syndrome" OR "IL2RA-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism

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

"Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome" OR "NDH syndrome" OR "neonatal diabetes mellitus with congenital hypothyroidism" OR "Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism"

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

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

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 (12172) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:58:11.212Z