ORPHA:165991
Exercise-induced hyperinsulinism
Also known as: EIHI · Exercise-induced hyperinsulinemic hypoglycemia · Hyperinsulinism due to SLC16A1 deficiency · Hyperinsulinism due to monocarboxylate transporter 1 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
7,933
Trials
1
Interventional, condition-specific
Researchers
331
Distinct authors in sample
Gene link
SLC16A1
Strong
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Presentation is of recurring episodes of associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of associated with exercise is variable and is only partially responsive to diazoxide.
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:0012396
- MeSH:C538376
- OMIM:610021
- UMLS:C1864902
- NCIT:C131839
Additional Mondo synonyms (6)
MCT1 hyperinsulinism · exercise-induced hyperinsulinemic hypoglycemia · hyperinsulinemic hypoglycemia, familial, type 7 · hyperinsulinism due to SLC16A1 deficiency · hyperinsulinism due to monocarboxylate transporter 1 deficiency · monocarboxylate transporter 1 hyperinsulinism
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — SLC16A1
- LiteraturePresent
7,933 matched papers (6,073 in last 10 years) Source
- Phenotype characterisedPresent
5 HPO annotations (e.g. Hypoglycemic seizures; Hypoglycemia; Hyperinsulinemia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
1 matched on ClinicalTrials.gov
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 (SLC16A1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
5
Associated phenotypes · MONDO:0012396
- Hypoglycemic seizures
- Hypoglycemia
- Hyperinsulinemia
- Pancreatic islet-cell hyperplasia
- Hyperinsulinemic hypoglycemia
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
7,933
7,933 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.
7,933 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).
6,073 in the last 10 years · low confidence
Phrase hits: 62 · MeSH hits: 0
Who's working on it?
331
Distinct author names in 62 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Hussain K8 papers · 2019
Division of Endocrinology, Department of Paediatric Medicine, Sidra Medicine, Doha, Qatar.
Papers in Europe PMC - 02Rutter GA8 papers · 2020
Section of Cell Biology, Division of Diabetes, Endocrinology and Metabolism, Department of Medicine, Imperial College London, Hammersmith Hospital, du Cane Road, London W12 0NN, UK.
Papers in Europe PMC - 03Otonkoski T7 papers · 2025
Hospital for Children and Adolescents and Biomedicum Helsinki, University of Helsinki, Helsinki, Finland. timo.otonkoski@helsinki.fi
Papers in Europe PMC - 04Mayatepek E5 papers · 2013Papers in Europe PMC
- 05Meissner T5 papers · 2013
Division of Metabolic and Endocrine Diseases, University Children's Hospital, Im Neuenheimer Feld 150, D-69120 Heidelberg, Germany.
Papers in Europe PMC - 06Pullen TJ5 papers · 2020
Section of Cell Biology and Functional Genomics, Division of Diabetes, Endocrinology and Metabolism, Imperial Centre for Translational and Experimental Medicine, Imperial College London, London, U.K.
Papers in Europe PMC - 07Schuit F4 papers · 2017
Gene Expression Unit, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 08Flanagan SE3 papers · 2025
Institute of Biomedical and Clinical Science, Peninsula Medical School, Barrack Road, Exeter, EX2 5DW, United Kingdom.
Papers in Europe PMC - 09Houghton JAL3 papers · 2025
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Papers in Europe PMC - 10Martinez-Sanchez A3 papers · 2020
Section of Cell Biology and Functional Genomics, Division of Diabetes, Endocrinology and Metabolism, Imperial Centre for Translational and Experimental Medicine, Imperial College London, London, U.K.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 11 September 2026 · last trial check 28 July 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
low confidence · 80.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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 Exercise-induced hyperinsulinism — check Associations / patient organisations on that page.
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.
("Exercise-induced hyperinsulinism" OR "Exercise-induced hyperinsulinemic hypoglycemia" OR "Hyperinsulinism due to SLC16A1 deficiency" OR "Hyperinsulinism due to monocarboxylate transporter 1 deficiency" OR "MCT1 hyperinsulinism" OR "hyperinsulinemic hypoglycemia, familial, type 7" OR "monocarboxylate transporter 1 hyperinsulinism") OR (MESH:"Hyperinsulinemic hypoglycemia, familial, 7") OR ("SLC16A1" OR "SLC16A1 syndrome" OR "SLC16A1-related")MeSH descriptor terms unioned into the query: Hyperinsulinemic hypoglycemia, familial, 7
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Exercise-induced hyperinsulinism" OR "Exercise-induced hyperinsulinemic hypoglycemia" OR "Hyperinsulinism due to SLC16A1 deficiency" OR "Hyperinsulinism due to monocarboxylate transporter 1 deficiency" OR "MCT1 hyperinsulinism" OR "hyperinsulinemic hypoglycemia, familial, type 7" OR "monocarboxylate transporter 1 hyperinsulinism" OR "Hyperinsulinemic hypoglycemia, familial, 7"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 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: EIHI
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
- Publication count (7933) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T08:17:34.909Z