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ORPHA:79299

Congenital glucokinase-related hyperinsulinism

medium confidenceDisorder

Also known as: Glucokinase-related hyperinsulinemic hypoglycemia

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

Publications

57

42th percentile

Trials

0

Interventional, condition-specific

Researchers

87

Distinct authors in sample

Gene link

GCK

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (7)

GCK-related hyperinsulinism · HHF3 · congenital glucokinase-related hyperinsulinism · glucokinase-related hyperinsulinemic hypoglycemia · hyperinsulinemic hypoglycemia familial 3 · hyperinsulinemic hypoglycemia, familial, 3 · hyperinsulinemic hypoglycemia, familial, type 3

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 — GCK

  2. LiteraturePresent

    57 matched papers (32 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Hyperinsulinemic hypoglycemia; Diabetes mellitus; Intellectual disability) 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 (GCK).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

18

Associated phenotypes · MONDO:0011236

  • Hyperinsulinemic hypoglycemia
  • Diabetes mellitus
  • Intellectual disability
  • Hypoglycemic coma
  • Hypoglycemic seizures

Showing 5 of 18 — 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?

57

57 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=3967) is 59.

57 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).

32 in the last 10 years · medium confidence · 42th percentile (publications denominator)

Phrase hits: 6 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

87

Distinct author names in 6 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
    Abhyankar A1 paper · 2026

    Molecular Diagnostics, New York Genome Center, New York, NY 10013, USA.

    Papers in Europe PMC
  2. 02
    Afaneh C1 paper · 2026

    Department of Surgery, Weill Cornell Medicine, New York, NY 10065, USA.

    Papers in Europe PMC
  3. 03
    Ainali C1 paper · 2011

    Centre for Bioinformatics, Department of Informatics, School of Natural and Mathematical Sciences, King's College London, Strand, UK.

    Papers in Europe PMC
  4. 04
    Alonso LC1 paper · 2026

    Division of Endocrinology, Department of Medicine, Weill Cornell Medicine, New York, NY 10021, USA.

    Papers in Europe PMC
  5. 05
    Anastasi L1 paper · 2026

    Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.

    Papers in Europe PMC
  6. 06
    Ashenden A1 paper · 2026

    South Australia Neonatal Screening Centre, Genetics and Molecular Pathology Directorate, SA Pathology at Women's & Children's Hospital, North Adelaide, Australia.

    Papers in Europe PMC
  7. 07
    Barnett C1 paper · 2026

    Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.

    Papers in Europe PMC
  8. 08
    Bellorin-Marin O1 paper · 2026

    Department of Surgery, Weill Cornell Medicine, New York, NY 10065, USA.

    Papers in Europe PMC
  9. 09
    Bratkovic D1 paper · 2026

    Metabolic Clinic, Women's and Children's Health Network, Adelaide, SA, Australia.

    Papers in Europe PMC
  10. 10
    Chen S1 paper · 2026

    Department of Surgery, Weill Cornell Medicine, New York, NY 10065, 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).

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.

medium 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 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 Congenital glucokinase-related hyperinsulinism — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Congenital hyperinsulinism as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("Congenital glucokinase-related hyperinsulinism" OR "Glucokinase-related hyperinsulinemic hypoglycemia" OR "GCK-related hyperinsulinism" OR "hyperinsulinemic hypoglycemia familial 3" OR "hyperinsulinemic hypoglycemia, familial, 3" OR "hyperinsulinemic hypoglycemia, familial, type 3") OR (MESH:"Hyperinsulinemic hypoglycemia, familial, 3") OR ("GCK syndrome" OR "GCK-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hyperinsulinemic hypoglycemia, familial, 3

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

"Congenital glucokinase-related hyperinsulinism" OR "Glucokinase-related hyperinsulinemic hypoglycemia" OR "GCK-related hyperinsulinism" OR "hyperinsulinemic hypoglycemia familial 3" OR "hyperinsulinemic hypoglycemia, familial, 3" OR "hyperinsulinemic hypoglycemia, familial, type 3"

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

Synonyms dropped by stoplist: HHF3

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 2026-07-27T02:13:53.730Z