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ORPHA:364

Glycogen storage disease due to glucose-6-phosphatase deficiency

low confidenceDisorder

Also known as: G6P deficiency · GSD due to G6P deficiency · GSD type 1 · GSD type I · Glycogen storage disease due to G6P deficiency · Glycogen storage disease type 1 · Glycogen storage disease type I · Glycogenosis type 1 · Glycogenosis type I · Hepatorenal glycogenosis · Von Gierke disease

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

Publications

2,629

Trials

6

Interventional, condition-specific

Researchers

1,201

Distinct authors in sample

Gene link

G6PC1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inherited disease (comprising two major subtypes: type Ia and Ib) characterized by poor tolerance to fasting, growth delay and resulting from accumulation of glycogen and fat in the liver.

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 (13)

GSD1 · Glycogen Storage Disease Type I · glycogen storage disease I · glycogen storage disease due to G6P deficiency · glycogen storage disease due to glucose-6-phosphatase deficiency · glycogen storage disease type 1 · glycogen storage disease type I · glycogen storage disease, type I · glycogenosis type 1 · glycogenosis type I · hepatorenal glycogenosis · von Gierke disease · von Gierke's disease

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 — G6PC1

  2. LiteraturePresent

    2,629 matched papers (787 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

    6 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (G6PC1).

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?

2,629

2,629 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

2,629 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).

787 in the last 10 years · low confidence

Phrase hits: 2,629 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,201

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
    Derks TGJ8 papers · 2026

    Department of Pediatrics, Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands.

    Papers in Europe PMC
  2. 02
    Gautschi M7 papers · 2026

    Department of Pediatrics and Institute of Clinical Chemistry, University Hospital Bern, Inselspital, Bern, Switzerland.

    Papers in Europe PMC
  3. 03
    Grünert SC7 papers · 2025

    Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center, University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany. sarah.gruenert@uniklinik-freiburg.de.

    Papers in Europe PMC
  4. 04
    Hochuli M6 papers · 2025

    Division of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland; Radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland. Electronic address: michel.hochuli@usz.ch.

    Papers in Europe PMC
  5. 05
    Weinstein DA5 papers · 2025

    Department of Pediatrics, University of Connecticut School of Medicine, Farmington, CT, USA.

    Papers in Europe PMC
  6. 06
    Zhang L5 papers · 2026

    Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20802, USA.

    Papers in Europe PMC
  7. 07
    Zhang Y5 papers · 2026

    Department of Pediatrics, Beijing Jishuitan Hospital, Beijing, China.

    Papers in Europe PMC
  8. 08
    Bakker BM4 papers · 2026

    Department of Pediatrics, Laboratory of Pediatrics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands.

    Papers in Europe PMC
  9. 09
    Chen HD4 papers · 2026

    Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20802, USA.

    Papers in Europe PMC
  10. 10
    Chou JY4 papers · 2026

    Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20802, USA. Electronic address: chouja@mail.nih.gov.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

6 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

6 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89th percentile).

low confidence · 89th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

6 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

5 observational studies match 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

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

Directly listed under NPRD Group 1.

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.

"Glycogen storage disease due to glucose-6-phosphatase deficiency" OR "G6P deficiency" OR "GSD due to G6P deficiency" OR "GSD type 1" OR "GSD type I" OR "Glycogen storage disease due to G6P deficiency" OR "Glycogen storage disease type 1" OR "Glycogen storage disease type I" OR "Glycogenosis type 1" OR "Glycogenosis type I" OR "Hepatorenal glycogenosis" OR "Von Gierke disease" OR "glycogen storage disease I" OR "glycogen storage disease, type I" OR "von Gierke's disease"

Run this search on Europe PMC

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

"Glycogen storage disease due to glucose-6-phosphatase deficiency" OR "G6P deficiency" OR "GSD due to G6P deficiency" OR "GSD type 1" OR "GSD type I" OR "Glycogen storage disease due to G6P deficiency" OR "Glycogen storage disease type 1" OR "Glycogen storage disease type I" OR "Glycogenosis type 1" OR "Glycogenosis type I" OR "Hepatorenal glycogenosis" OR "Von Gierke disease" OR "glycogen storage disease I" OR "glycogen storage disease, type I" OR "von Gierke's disease" OR "G6PC1"

Recall-expansion terms: G6PC1

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: 6 interventional · 5 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

Synonyms dropped by stoplist: GSD1

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 (2629) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:34:14.018Z