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ORPHA:369

Glycogen storage disease due to liver glycogen phosphorylase deficiency

low confidenceDisorder

Also known as: GSD due to liver glycogen phosphorylase deficiency · GSD type 6 · GSD type VI · Glycogen storage disease type 6 · Glycogen storage disease type VI · Glycogenosis due to liver glycogen phosphorylase deficiency · Glycogenosis type 6 · Glycogenosis type VI · Hepatic glycogen phosphorylase deficiency · Hepatic phosphorylase deficiency · Hers disease · Liver glycogen phosphorylase deficiency

Publications

2,025

Trials

0

Interventional, condition-specific

Researchers

1,775

Distinct authors in sample

Gene link

PYGL

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of glycogen storage disease (GSD) characterized by a deficiency of hepatic glycogen phosphorylase leading to impaired glycogenolysis, and characterized by and growth delay in childhood.

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)

Glycogen Storage Disease Type VI · PYGL glycogen storage disease · glycogen storage disease VI · glycogen storage disease caused by mutation in PYGL · glycogen storage disease type 6 · glycogen storage disease type VI · glycogenosis due to liver glycogen phosphorylase deficiency · glycogenosis type 6 · glycogenosis type VI · hepatic glycogen phosphorylase deficiency · hepatic phosphorylase deficiency · hers disease · liver glycogen phosphorylase 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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — PYGL

  2. LiteraturePresent

    2,025 matched papers (1,540 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Reduced hepatic glycogen phosphorylase activity; Failure to thrive in infancy; Hypertriglyceridemia) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (PYGL).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0009294

  • Reduced hepatic glycogen phosphorylase activity
  • Failure to thrive in infancy
  • Hypertriglyceridemia
  • Hypercholesterolemia
  • Hyperlipidemia

Showing 5 of 38 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

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

3

Drugs / clinical candidates · MONDO_0009294

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,025

2,025 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.

2,025 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).

1,540 in the last 10 years · low confidence

Phrase hits: 226 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

1,775

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Berindan-Neagoe I12 papers · 2023

    Research Center for Functional Genomics, Biomedicine and Translational Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Papers in Europe PMC
  2. 02
    Burz C8 papers · 2023

    Department of Immunology and Allergology, Faculty of Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Papers in Europe PMC
  3. 03
    Chelaru V8 papers · 2023

    Faculty of Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Papers in Europe PMC
  4. 04
    Pralea I8 papers · 2023

    Research Center for Advanced Medicine MedFUTURE, Cluj-Napoca, Romania

    Papers in Europe PMC
  5. 05
    Ţigu A8 papers · 2023

    Research Center for Advanced Medicine MedFUTURE, Cluj-Napoca, Romania

    Papers in Europe PMC
  6. 06
    Toma V8 papers · 2023

    Research Center for Advanced Medicine MEDFUTURE, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, Romania

    Papers in Europe PMC
  7. 07
    Tomuleasa C8 papers · 2023

    Research Center for Advanced Medicine MEDFUTURE, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-Napoca, Romania

    Papers in Europe PMC
  8. 08
    Vlase L8 papers · 2023

    Department of Pharmaceutical Technology and Biopharmacy, Faculty of Pharmacy, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Papers in Europe PMC
  9. 09
    Grama A7 papers · 2023

    Department of 2 Pediatric Clinic, Faculty of Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania

    Papers in Europe PMC
  10. 10
    Iuga C7 papers · 2023

    Research Center for Advanced Medicine MedFUTURE, Cluj-Napoca, Romania

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 9 September 2026 · last trial check 9 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

2 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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 4 · fetched 2026-07-27

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).

Uncertain / not reviewed (1)

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 liver glycogen phosphorylase deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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 liver glycogen phosphorylase deficiency" OR "GSD due to liver glycogen phosphorylase deficiency" OR "GSD type 6" OR "GSD type VI" OR "Glycogen storage disease type 6" OR "Glycogen storage disease type VI" OR "Glycogenosis due to liver glycogen phosphorylase deficiency" OR "Glycogenosis type 6" OR "Glycogenosis type VI" OR "Hepatic glycogen phosphorylase deficiency" OR "Hepatic phosphorylase deficiency" OR "Hers disease" OR "Liver glycogen phosphorylase deficiency" OR "PYGL glycogen storage disease" OR "glycogen storage disease VI") OR (MESH:"Glycogen Storage Disease Type VI") OR ("PYGL" OR "PYGL syndrome" OR "PYGL-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Glycogen Storage Disease Type VI

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

"Glycogen storage disease due to liver glycogen phosphorylase deficiency" OR "GSD due to liver glycogen phosphorylase deficiency" OR "GSD type 6" OR "GSD type VI" OR "Glycogen storage disease type 6" OR "Glycogen storage disease type VI" OR "Glycogenosis due to liver glycogen phosphorylase deficiency" OR "Glycogenosis type 6" OR "Glycogenosis type VI" OR "Hepatic glycogen phosphorylase deficiency" OR "Hepatic phosphorylase deficiency" OR "Hers disease" OR "Liver glycogen phosphorylase deficiency" OR "PYGL glycogen storage disease" OR "glycogen storage disease VI"

Study-type breakdown: 0 interventional · 2 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

Synonyms dropped by stoplist: glycogen storage disease caused by mutation in PYGL

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 (2025) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T01:43:27.997Z