RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:79258

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

high confidenceSubtype of disorder

Also known as: G6P deficiency type 1a · GSD due to G6P deficiency type 1a · GSD due to G6P deficiency type Ia · GSD type 1a · GSDIa · Glycogen storage disease due to G6P deficiency type Ia · Glycogen storage disease type 1a · Glycogenosis due to glucose-6-phosphatase deficiency type 1a · Glycogenosis due to glucose-6-phosphatase deficiency type Ia · Glycogenosis type Ia

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

957

90.7th percentile

Trials

5

Interventional, condition-specific

Researchers

1,192

Distinct authors in sample

Gene link

G6PC1

Definitive

Readiness

3/6

Stages with a signal

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 (8)

G6PC glycogen storage disease · glycogen storage disease caused by mutation in G6PC · glycogen storage disease due to G6P deficiency type Ia · glycogen storage disease type 1a · glycogen storage disease type Ia · glycogenosis due to glucose-6-phosphatase deficiency type 1a · glycogenosis due to glucose-6-phosphatase deficiency type Ia · glycogenosis type Ia

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

    957 matched papers (538 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

    5 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?

957

957 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.

957 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).

538 in the last 10 years · high confidence · 90.7th percentile (publications denominator)

Phrase hits: 957 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,192

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 TGJ14 papers · 2026

    Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

    Papers in Europe PMC
  2. 02
    Oosterveer MH11 papers · 2026

    Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

    Papers in Europe PMC
  3. 03
    Rossi A10 papers · 2025

    Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.

    Papers in Europe PMC
  4. 04
    Mithieux G8 papers · 2026

    Institut National de la Santé et de la Recherche Médicale, U1213, Lyon, F-69008, France; Université de Lyon, Lyon, F-69008, France; Université Lyon1, Villeurbanne, F-69622, France. Electronic address: gilles.mithieux@univ-lyon1.fr.

    Papers in Europe PMC
  5. 05
    Rajas F8 papers · 2026

    Institut National de la Santé et de la Recherche Médicale, U1213, Lyon, F-69008, France; Université de Lyon, Lyon, F-69008, France; Université Lyon1, Villeurbanne, F-69622, France. Electronic address: fabienne.rajas@univ-lyon1.fr.

    Papers in Europe PMC
  6. 06
    Weinstein DA8 papers · 2026

    Glycogen Storage Disease Program, Connecticut Children's Medical Center, Hartford, Connecticut.

    Papers in Europe PMC
  7. 07
    Chou JY7 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, USA. Electronic address: chouja@mail.nih.gov.

    Papers in Europe PMC
  8. 08
    Melis D7 papers · 2025

    Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", Section of Pediatrics, University of Salerno, Via Salvador Allende, 43 84081, Baronissi (Salerno), Italy. dmelis@unisa.it.

    Papers in Europe PMC
  9. 09
    Parenti G7 papers · 2025

    Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.

    Papers in Europe PMC
  10. 10
    Arnaoutova I6 papers · 2025

    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 20892, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

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

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

high confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

8 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

Likely covered — the policy lists Glycogen storage disease type I 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.

"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia" OR "G6P deficiency type 1a" OR "GSD due to G6P deficiency type 1a" OR "GSD due to G6P deficiency type Ia" OR "GSD type 1a" OR "GSDIa" OR "Glycogen storage disease due to G6P deficiency type Ia" OR "Glycogen storage disease type 1a" OR "Glycogenosis due to glucose-6-phosphatase deficiency type 1a" OR "Glycogenosis due to glucose-6-phosphatase deficiency type Ia" OR "Glycogenosis type Ia" OR "G6PC glycogen storage disease" OR "glycogen storage disease type Ia"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hepatorenal form of glycogen storage disease

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

"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia" OR "G6P deficiency type 1a" OR "GSD due to G6P deficiency type 1a" OR "GSD due to G6P deficiency type Ia" OR "GSD type 1a" OR "GSDIa" OR "Glycogen storage disease due to G6P deficiency type Ia" OR "Glycogen storage disease type 1a" OR "Glycogenosis due to glucose-6-phosphatase deficiency type 1a" OR "Glycogenosis due to glucose-6-phosphatase deficiency type Ia" OR "Glycogenosis type Ia" OR "G6PC glycogen storage disease" OR "glycogen storage disease type Ia" OR "Hepatorenal form of glycogen storage 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: 5 interventional · 8 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: glycogen storage disease caused by mutation in G6PC

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 2026-07-27T02:09:25.655Z