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ORPHA:35878

Hyperinsulinism-hyperammonemia syndrome

high confidenceDisorder

Also known as: HI/HA syndrome

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

Publications

220

68.8th percentile

Trials

2

Interventional, condition-specific

Researchers

1,020

Distinct authors in sample

Gene link

GLUD1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare diffuse form of hyperinsulinism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), chronic and recurrent episodes of induced by fasting and protein rich meals. and cognitive deficit, which are unrelated to but possibly related to the chronic , may also occur. This disorder is usually responsive to diazoxide treatment.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

GDH hyperinsulinism · GLUD1 hyperinsulinism · glutamate dehydrogenase 1 hyperinsulinism · hi/HA syndrome · hyperinsulinemic hypoglycemia, familial, type 6 · hyperinsulinism-hyperammonemia syndrome · hyperinsulinism/hyperammonemia syndrome

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — GLUD1

  2. LiteraturePresent

    220 matched papers (115 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 trialPresent

    2 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 (GLUD1).

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?

220

220 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.

220 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).

115 in the last 10 years · high confidence · 68.8th percentile (publications denominator)

Phrase hits: 220 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,020

Distinct author names in 200 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.

  1. 01
    Stanley CA21 papers · 2025

    Division of Endocrinology, The Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104.

    Papers in Europe PMC
  2. 02
    Hussain K13 papers · 2019

    Great Ormond Street Hospital for Children, UCL Institute of Child Health, Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, London, UK Phone: +44 2079052128 E-mail: khalid.hussain@ucl.ac.uk.

    Papers in Europe PMC
  3. 03
    Smith TJ9 papers · 2019

    Donald Danforth Plant Science Center, 975 North Warson Road, St. Louis, MO 63132, USA. tsmith@danforthcenter.org

    Papers in Europe PMC
  4. 04
    Rosenfeld E8 papers · 2026

    Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  5. 05
    De León DD7 papers · 2023

    Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  6. 06
    Li C7 papers · 2019

    Division of Endocrinology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

    Papers in Europe PMC
  7. 07
    Hsu BY6 papers · 2006

    Division of Endocrinology, the Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

    Papers in Europe PMC
  8. 08
    Kelly A6 papers · 2006

    Division of Endocrinology, The Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

    Papers in Europe PMC
  9. 09
    Boodhansingh KE5 papers · 2026

    Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  10. 10
    Dionisi-Vici C5 papers · 2022

    Division of Metabolism, Bambino Gesù Children’s Research Hospital, Piazza S. Onofrio 4, Rome, 00165 Italy

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

high confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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

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.

"Hyperinsulinism-hyperammonemia syndrome" OR "HI/HA syndrome" OR "GDH hyperinsulinism" OR "GLUD1 hyperinsulinism" OR "glutamate dehydrogenase 1 hyperinsulinism" OR "hyperinsulinemic hypoglycemia, familial, type 6" OR "hyperinsulinism/hyperammonemia syndrome"

Run this search on Europe PMC

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

"Hyperinsulinism-hyperammonemia syndrome" OR "HI/HA syndrome" OR "GDH hyperinsulinism" OR "GLUD1 hyperinsulinism" OR "glutamate dehydrogenase 1 hyperinsulinism" OR "hyperinsulinemic hypoglycemia, familial, type 6" OR "hyperinsulinism/hyperammonemia syndrome" OR "GLUD1"

Recall-expansion terms: GLUD1

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: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, 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 2026-07-26T23:50:07.470Z