ORPHA:79299
Congenital glucokinase-related hyperinsulinism
Also known as: Glucokinase-related hyperinsulinemic hypoglycemia
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
6
19.9th percentile
Trials
0
Interventional, condition-specific
Researchers
87
Distinct authors in sample
Gene link
GCK
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011236
- MeSH:C538374
- OMIM:602485
- UMLS:C1865290
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.”
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.
- Gene identifiedPresent
Definitive — GCK
- LiteraturePresent
6 matched papers (5 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 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)
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?
6
6 papers have ever been indexed 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.
6 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).
5 in the last 10 years · medium confidence · 19.9th percentile (publications denominator)
Phrase hits: 6 · MeSH hits: 0
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.
- 01Abhyankar A1 paper · 2026
Molecular Diagnostics, New York Genome Center, New York, NY 10013, USA.
Papers in Europe PMC - 02Afaneh C1 paper · 2026
Department of Surgery, Weill Cornell Medicine, New York, NY 10065, USA.
Papers in Europe PMC - 03Ainali 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 - 04Alonso LC1 paper · 2026
Division of Endocrinology, Department of Medicine, Weill Cornell Medicine, New York, NY 10021, USA.
Papers in Europe PMC - 05Anastasi L1 paper · 2026
Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.
Papers in Europe PMC - 06Ashenden 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 - 07Barnett C1 paper · 2026
Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, Australia.
Papers in Europe PMC - 08Bellorin-Marin O1 paper · 2026
Department of Surgery, Weill Cornell Medicine, New York, NY 10065, USA.
Papers in Europe PMC - 09Bratkovic D1 paper · 2026
Metabolic Clinic, Women's and Children's Health Network, Adelaide, SA, Australia.
Papers in Europe PMC - 10Chen 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 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.
medium 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 2026-07-26Likely 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"
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" OR "GCK" OR "familial hyperinsulinism"
Recall-expansion terms: GCK, familial hyperinsulinism
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
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