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ORPHA:371

Glycogen storage disease due to muscle phosphofructokinase deficiency

low confidenceDisorder

Also known as: GSD due to muscle phosphofructokinase deficiency · GSD type 7 · GSD type VII · Glycogen storage disease type 7 · Glycogen storage disease type VII · Glycogenosis due to muscle phosphofructokinase deficiency · Glycogenosis type 7 · Glycogenosis type VII · Tarui disease

Publications

2,900

Trials

2

Interventional, condition-specific

Researchers

987

Distinct authors in sample

Gene link

PFKM

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of glycogen storage disease (GSD) characterized classically by exertional fatigue and muscular exercise intolerance. It occurs typically in childhood and adolescence.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (11)

GSDVII · Glycogen Storage Disease Type 7 · PFKM glycogen storage disease · glycogen storage disease VII · glycogen storage disease caused by mutation in PFKM · glycogen storage disease type 7 · glycogen storage disease type VII · glycogenosis due to muscle phosphofructokinase deficiency · glycogenosis type 7 · glycogenosis type VII · phosphofructokinase 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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — PFKM

  2. LiteraturePresent

    2,900 matched papers (2,125 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Increased total bilirubin; Reduced muscle 6-phosphofructokinase activity; Elevated circulating aldolase concentration) Source

  4. Animal modelPresent

    2 genotype models (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 (PFKM).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0009295

  • Increased total bilirubin
  • Reduced muscle 6-phosphofructokinase activity
  • Elevated circulating aldolase concentration
  • Increased circulating lactate dehydrogenase concentration
  • Reticulocytosis

Showing 5 of 30 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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_0009295

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,900

2,900 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.

2,900 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).

2,125 in the last 10 years · low confidence

Phrase hits: 491 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

987

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
    DiMauro S8 papers · 2016

    Department of Neurology, Columbia University Medical Center, NewYork, NY, USA.

    Papers in Europe PMC
  2. 02
    Giger U8 papers · 2024

    Clinic for Small Animal Internal Medicine, Vetsuisse Faculty University of Zürich, 8057 Zürich, Switzerland.

    Papers in Europe PMC
  3. 03
    Nakajima H8 papers · 2004

    Second Department of Internal Medicine, Osaka University Medical School, Japan.

    Papers in Europe PMC
  4. 04
    Vora S7 papers · 1988

    Department of Basic and Clinical Research, Scripps Clinic and Research Foundation, La Jolla, California 92037.

    Papers in Europe PMC
  5. 05
    Quinlivan R6 papers · 2022

    Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust London UK.

    Papers in Europe PMC
  6. 06
    Raben N6 papers · 2002

    Arthritis and Rheumatism Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, MD 20892.

    Papers in Europe PMC
  7. 07
    Tarui S6 papers · 2002
    Papers in Europe PMC
  8. 08
    Vissing J6 papers · 2022

    Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark.

    Papers in Europe PMC
  9. 09
    Kono N5 papers · 1996
    Papers in Europe PMC
  10. 10
    Ronquist G5 papers · 2006

    Department of Clinical Chemistry, University Hospital, S-751 85 Uppsala, Sweden.

    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

3 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 5 · dropped 0 · fetched 2026-07-29

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 (5)

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 muscle phosphofructokinase 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 muscle phosphofructokinase deficiency" OR "GSD due to muscle phosphofructokinase deficiency" OR "GSD type 7" OR "GSD type VII" OR "Glycogen storage disease type 7" OR "Glycogen storage disease type VII" OR "Glycogenosis due to muscle phosphofructokinase deficiency" OR "Glycogenosis type 7" OR "Glycogenosis type VII" OR "Tarui disease" OR "GSDVII" OR "PFKM glycogen storage disease" OR "glycogen storage disease VII" OR "phosphofructokinase deficiency") OR ("PFKM" OR "PFKM syndrome" OR "PFKM-related")

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 muscle phosphofructokinase deficiency" OR "GSD due to muscle phosphofructokinase deficiency" OR "GSD type 7" OR "GSD type VII" OR "Glycogen storage disease type 7" OR "Glycogen storage disease type VII" OR "Glycogenosis due to muscle phosphofructokinase deficiency" OR "Glycogenosis type 7" OR "Glycogenosis type VII" OR "Tarui disease" OR "GSDVII" OR "PFKM glycogen storage disease" OR "glycogen storage disease VII" OR "phosphofructokinase deficiency"

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

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

Run this search on ClinicalTrials.gov

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

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 (2900) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T13:36:08.707Z