ORPHA:371
Glycogen storage disease due to muscle phosphofructokinase deficiency
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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
491
74.5th percentile
Trials
2
Interventional, condition-specific
Researchers
987
Distinct authors in sample
Gene link
PFKM
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009295
- MeSH:D006014
- OMIM:232800
- UMLS:C0017926
- NCIT:C118437
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — PFKM
- LiteraturePresent
491 matched papers (156 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
491
491 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
491 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).
156 in the last 10 years · medium confidence · 74.5th percentile (publications denominator)
Phrase hits: 491 · MeSH hits: 0
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.
- 01DiMauro S8 papers · 2016
Department of Neurology, Columbia University Medical Center, NewYork, NY, USA.
Papers in Europe PMC - 02Giger U8 papers · 2024
Clinic for Small Animal Internal Medicine, Vetsuisse Faculty University of Zürich, 8057 Zürich, Switzerland.
Papers in Europe PMC - 03Nakajima H8 papers · 2004
Second Department of Internal Medicine, Osaka University Medical School, Japan.
Papers in Europe PMC - 04Vora S7 papers · 1988
Department of Basic and Clinical Research, Scripps Clinic and Research Foundation, La Jolla, California 92037.
Papers in Europe PMC - 05Quinlivan R6 papers · 2022
Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust London UK.
Papers in Europe PMC - 06Raben 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 - 07Tarui S6 papers · 2002Papers in Europe PMC
- 08Vissing J6 papers · 2022
Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark.
Papers in Europe PMC - 09Kono N5 papers · 1996Papers in Europe PMC
- 10Ronquist 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 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th 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
- NCT06795152·RECRUITING·Rare Glycogen Storage Diseases Natural History Study
Conditions: Glycogen Storage Disease · GSD Type 0A · GSD Type 0B · GSD VII·Matched via name phrase
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 2026-07-26This 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"
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" OR "PFKM"
Recall-expansion terms: PFKM
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: suspect — strategies attempted: phrase, recall-expansion; 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 (491) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T13:36:08.707Z