ORPHA:2089
Glycogen storage disease due to hepatic glycogen synthase deficiency
Also known as: GSD due to hepatic glycogen synthase deficiency · GSD type 0a · Glycogen storage disease due to liver glycogen synthase deficiency · Glycogen storage disease type 0a · Glycogenosis type 0a
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
79
53.3th percentile
Trials
1
Interventional, condition-specific
Researchers
484
Distinct authors in sample
Gene link
GYS2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetically inherited anomaly of glycogen metabolism, considered a form of glycogen storage disease (GSD, or glycogenosis), characterized by post-meal hyperglycemia and fasting . This is not a glycogenosis, strictly speaking, as there is no storage of glycogen, the deficiency preventing hepatic glycogen synthesis.
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:0009414
- MeSH:C565485
- OMIM:240600
- UMLS:C1855861
Additional Mondo synonyms (7)
glycogen storage disease due to glycogen synthase deficiency of liver · glycogen storage disease due to hepatic glycogen synthase deficiency · glycogen storage disease due to liver glycogen synthase deficiency · glycogen storage disease type 0a · glycogen synthase deficiency · glycogenosis type 0a · liver glycogen storage disease due to glycogen synthase deficiency
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.
- Gene identifiedPresent
Definitive — GYS2
- LiteraturePresent
79 matched papers (50 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 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 (GYS2).
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?
79
79 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.
79 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).
50 in the last 10 years · high confidence · 53.3th percentile (publications denominator)
Phrase hits: 79 · MeSH hits: 0
Who's working on it?
484
Distinct author names in 79 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.
- 01Weinstein DA7 papers · 2025
Glycogen Storage Disease Program, University of Florida College of Medicine, Gainesville, FL.
Papers in Europe PMC - 02Derks TGJ5 papers · 2025
Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO box 30 001, 9700, RB, Groningen, the Netherlands.
Papers in Europe PMC - 03Shah P4 papers · 2025
Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, Great Ormond Street, London, WC1N 3JH, UK. pratik.shah6@nhs.net.
Papers in Europe PMC - 04Wolfsdorf JI4 papers · 2025
Division of Endocrinology, Boston Children's Hospital, Boston, MA.
Papers in Europe PMC - 05Bosshard NU3 papers · 2001Papers in Europe PMC
- 06Christesen HT3 papers · 2021
Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Papers in Europe PMC - 07Drachmann D3 papers · 2025
Ketotic Hypoglycemia International (KHI), Skanderborg, Denmark.
Papers in Europe PMC - 08Rokicki D3 papers · 2024
Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
Papers in Europe PMC - 09Byrne BJ2 papers · 2024
Department of Pediatrics, Powell Gene Therapy Center, College of Medicine, University of Florida, Gainesville, Florida, USA.
Papers in Europe PMC - 10Carrigg A2 papers · 2021
Ketotic Hypoglycemia International (KHI), Skanderborg, Denmark.
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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th 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.
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.
Recruiting or not-yet-recruiting
- NCT06795152·RECRUITING·Rare Glycogen Storage Diseases Natural History Study
Conditions: Glycogen Storage Disease · GSD Type 0A · GSD Type 0B · GSD VII·Matched via name phrase
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 2026-07-26This 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.
"Glycogen storage disease due to hepatic glycogen synthase deficiency" OR "GSD due to hepatic glycogen synthase deficiency" OR "GSD type 0a" OR "Glycogen storage disease due to liver glycogen synthase deficiency" OR "Glycogen storage disease type 0a" OR "Glycogenosis type 0a" OR "glycogen storage disease due to glycogen synthase deficiency of liver" OR "glycogen storage disease due to glycogen synthase deficiency of the liver" OR "glycogen synthase deficiency" OR "liver glycogen storage disease due to glycogen synthase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to hepatic glycogen synthase deficiency" OR "GSD due to hepatic glycogen synthase deficiency" OR "GSD type 0a" OR "Glycogen storage disease due to liver glycogen synthase deficiency" OR "Glycogen storage disease type 0a" OR "Glycogenosis type 0a" OR "glycogen storage disease due to glycogen synthase deficiency of liver" OR "glycogen storage disease due to glycogen synthase deficiency of the liver" OR "glycogen synthase deficiency" OR "liver glycogen storage disease due to glycogen synthase deficiency" OR "GYS2"
Recall-expansion terms: GYS2
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 · 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 2026-07-26T19:04:53.468Z