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ORPHA:79118

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

high confidenceDisorder

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

27

38.6th percentile

Trials

0

Interventional, condition-specific

Researchers

193

Distinct authors in sample

Gene link

GLIS3, IL2RA

Definitive

Readiness

2/6

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.”

2/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — GLIS3, IL2RA

  2. LiteraturePresent

    27 matched papers (22 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 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)

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?

27

27 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.

27 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).

22 in the last 10 years · high confidence · 38.6th percentile (publications denominator)

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 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.

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

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.

"Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome" OR "NDH syndrome" OR "neonatal diabetes mellitus with congenital hypothyroidism"

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" OR "GLIS3" OR "IL2RA"

Recall-expansion terms: GLIS3, IL2RA

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

Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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

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