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ORPHA:79259

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

low confidenceSubtype of disorder

Also known as: G6P deficiency type Ib · G6P translocase deficiency · G6PT deficiency · GSD due to G6P deficiency type 1b · GSD due to G6P deficiency type Ib · GSD due to G6PT deficiency · GSD type 1 non a · GSD type 1b · GSD type Ib · GSDIb · Glycogen storage disease due to G6P deficiency type Ib · Glycogen storage disease type 1b · Glycogen storage disease type Ib · Glycogenosis due to glucose-6-phosphatase deficiency type 1b · Glycogenosis due to glucose-6-phosphatase transport defect type Ib · Glycogenosis type 1b · Glycogenosis type Ib

Publications

1,590

Trials

2

Interventional, condition-specific

Researchers

1,239

Distinct authors in sample

Gene link

SLC37A4

Definitive

Readiness

5/6

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 (17)

G6P deficiency type IB · GSD Ib · GSD due to G6P deficiency type IB · GSD type IB · GSD1B · glucose-6-phosphate transport defect · glycogen storage disease Ib · glycogen storage disease Ic · glycogen storage disease due to G6P deficiency type IB · glycogen storage disease type 1b · glycogen storage disease type I non-a · glycogen storage disease type IB · glycogen storage disease type Ic · glycogenosis due to glucose-6-phosphatase deficiency type 1B · glycogenosis due to glucose-6-phosphatase transport defect type IB · glycogenosis type 1b · glycogenosis type IB

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SLC37A4

  2. LiteraturePresent

    1,590 matched papers (938 in last 10 years) Source

  3. Phenotype characterisedPresent

    119 HPO annotations (e.g. Renal insufficiency; Spider hemangioma; Pulmonary arterial hypertension) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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 (SLC37A4).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

119

Associated phenotypes · MONDO:0009288

  • Renal insufficiency
  • Spider hemangioma
  • Pulmonary arterial hypertension
  • Decreased glomerular filtration rate
  • Xanthelasma

Showing 5 of 119 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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

1

Drugs / clinical candidates · MONDO_0009288

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,590

1,590 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=3967) is 59.

1,590 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).

938 in the last 10 years · low confidence

Phrase hits: 989 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,239

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 TGJ13 papers · 2026

    University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Section of Metabolic Diseases, Groningen, the Netherlands; UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, the Netherlands.

    Papers in Europe PMC
  2. 02
    Veiga-da-Cunha M13 papers · 2026

    Walloon Excellence in Lifesciences and Biotechnology, B-1200 Brussels, Belgium; maria.veiga@uclouvain.be emile.vanschaftingen@uclouvain.be.

    Papers in Europe PMC
  3. 03
    Grünert SC12 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
    Wang Y10 papers · 2026

    State Key Laboratory of Membrane Biology, School of Pharmaceutical Sciences, Key Laboratory of Bioorganic Phosphorus Chemistry and Chemical Biology (Ministry of Education), Tsinghua University, Beijing, China.

    Papers in Europe PMC
  5. 05
    Wortmann SB9 papers · 2026

    University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.

    Papers in Europe PMC
  6. 06
    Lee YM8 papers · 2023

    Section on Cellular Differentiation, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.

    Papers in Europe PMC
  7. 07
    Jun HS7 papers · 2023

    Department of Biotechnology and Bioinformatics, College of Science and Technology, Korea University, Sejong 339-700, Republic of Korea. Electronic address: toddjun@korea.ac.kr.

    Papers in Europe PMC
  8. 08
    Yang M7 papers · 2026

    Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, 510080, China. yangmin1008@gdph.org.cn.

    Papers in Europe PMC
  9. 09
    Zhang Y7 papers · 2026

    Department of Gastroenterology, The First Affiliated Hospital of Hunan Normal University, Hunan Provincial People's Hospital, Changsha, 410005, Hunan, China.

    Papers in Europe PMC
  10. 10
    Bakker BM6 papers · 2026

    Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. b.m.bakker01@umcg.nl.

    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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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

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

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 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib — check Associations / patient organisations on that page.

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 Ib" OR "G6P deficiency type Ib" OR "G6P translocase deficiency" OR "G6PT deficiency" OR "GSD due to G6P deficiency type 1b" OR "GSD due to G6P deficiency type Ib" OR "GSD due to G6PT deficiency" OR "GSD type 1 non a" OR "GSD type 1b" OR "GSD type Ib" OR "GSDIb" OR "Glycogen storage disease due to G6P deficiency type Ib" OR "Glycogen storage disease type 1b" OR "Glycogen storage disease type Ib" OR "Glycogenosis due to glucose-6-phosphatase deficiency type 1b" OR "Glycogenosis due to glucose-6-phosphatase transport defect type Ib" OR "Glycogenosis type 1b" OR "Glycogenosis type Ib" OR "GSD Ib" OR "GSD1B" OR "glucose-6-phosphate transport defect" OR "glycogen storage disease Ib" OR "glycogen storage disease Ic" OR "glycogen storage disease type I non-a" OR "glycogen storage disease type Ic") OR (MESH:"Glycogen Storage Disease IB") OR ("SLC37A4" OR "SLC37A4 syndrome" OR "SLC37A4-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Glycogen Storage Disease IB

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 Ib" OR "G6P deficiency type Ib" OR "G6P translocase deficiency" OR "G6PT deficiency" OR "GSD due to G6P deficiency type 1b" OR "GSD due to G6P deficiency type Ib" OR "GSD due to G6PT deficiency" OR "GSD type 1 non a" OR "GSD type 1b" OR "GSD type Ib" OR "GSDIb" OR "Glycogen storage disease due to G6P deficiency type Ib" OR "Glycogen storage disease type 1b" OR "Glycogen storage disease type Ib" OR "Glycogenosis due to glucose-6-phosphatase deficiency type 1b" OR "Glycogenosis due to glucose-6-phosphatase transport defect type Ib" OR "Glycogenosis type 1b" OR "Glycogenosis type Ib" OR "GSD Ib" OR "GSD1B" OR "glucose-6-phosphate transport defect" OR "glycogen storage disease Ib" OR "glycogen storage disease Ic" OR "glycogen storage disease type I non-a" OR "glycogen storage disease type Ic"

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 · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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
  • Publication count (1590) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T02:09:47.752Z