ORPHA:97234
Glycogen storage disease due to phosphoglycerate mutase deficiency
Also known as: DiMauro disease · GSD due to phosphoglycerate mutase 2 deficiency · GSD type 10 · Glycogen storage disease due to PGAM2 deficiency · Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · Glycogen storage disease, type 10 · Glycogen storage disease, type X · Glycogenosis due to phosphoglycerate mutase 2 deficiency · Muscle phosphoglycerate mutase deficiency · Myopathy due to phosphoglycerate mutase deficiency · PGAM deficiency · PGAM-M deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,531
Trials
0
Interventional, condition-specific
Researchers
290
Distinct authors in sample
Gene link
PGAM2
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare glycogen storage disease characterized by susceptibility to rhabdomyolysis complicated by episodes of exercise-induced muscle pain, cramping, and myoglobinuria. Tubular aggregates may be present on muscle biopsy.
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:0009865
- MeSH:C536176
- OMIM:261670
- UMLS:C0268149
- NCIT:C131647
Additional Mondo synonyms (7)
GSD due to phosphoglycerate mutase deficiency · PGAM2 glycogen storage disease · glycogen storage disease caused by mutation in PGAM2 · glycogen storage disease type 10 · glycogenosis due to phosphoglycerate mutase deficiency · muscle phosphoglycerate mutase deficiency · myopathy due to phosphoglycerate mutase 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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — PGAM2
- LiteraturePresent
1,531 matched papers (1,040 in last 10 years) Source
- Phenotype characterisedPresent
8 HPO annotations (e.g. Rhabdomyolysis; Exercise-induced myalgia; Exercise-induced muscle cramps) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (PGAM2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
8
Associated phenotypes · MONDO:0009865
- Rhabdomyolysis
- Exercise-induced myalgia
- Exercise-induced muscle cramps
- Myopathy
- Renal insufficiency
Showing 5 of 8 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,531
1,531 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.
1,531 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).
1,040 in the last 10 years · low confidence
Phrase hits: 54 · MeSH hits: 0
Who's working on it?
290
Distinct author names in 54 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.
- 01DiMauro S13 papers · 2011
Department of Neurology, Columbia University Medical Center, New York, USA. sd12@columbia.edu
Papers in Europe PMC - 02Shanske S4 papers · 1999Papers in Europe PMC
- 03Toscano A4 papers · 2009
Institute of Neurological and Neurosurgical Sciences, University of Messina, Italy.
Papers in Europe PMC - 04Tsujino S4 papers · 2001
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032, USA.
Papers in Europe PMC - 05Bresolin N3 papers · 1994Papers in Europe PMC
- 06Kondoh H3 papers · 2021
Geriatric Unit, Graduate School of Medicine, Kyoto University, 54 Kawaharacho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan; Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Kyoto 606-8507, Japan. Electronic address: hkondoh@kuhp.kyoto-u.ac.jp.
Papers in Europe PMC - 07Miranda AF3 papers · 1983Papers in Europe PMC
- 08Vissing J3 papers · 2009
Department of Neurology and Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Denmark.
Papers in Europe PMC - 09Bruno C2 papers · 2009Papers in Europe PMC
- 10Friedman R2 papers · 1982Papers 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 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.
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 phosphoglycerate mutase deficiency — check Associations / patient organisations on that page.
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 phosphoglycerate mutase deficiency" OR "DiMauro disease" OR "GSD due to phosphoglycerate mutase 2 deficiency" OR "GSD type 10" OR "Glycogen storage disease due to PGAM2 deficiency" OR "Glycogen storage disease due to phosphoglycerate mutase 2 deficiency" OR "Glycogen storage disease, type 10" OR "Glycogen storage disease, type X" OR "Glycogenosis due to phosphoglycerate mutase 2 deficiency" OR "Muscle phosphoglycerate mutase deficiency" OR "Myopathy due to phosphoglycerate mutase deficiency" OR "PGAM deficiency" OR "PGAM-M deficiency" OR "GSD due to phosphoglycerate mutase deficiency" OR "PGAM2 glycogen storage disease" OR "glycogen storage disease type 10" OR "glycogenosis due to phosphoglycerate mutase deficiency") OR (MESH:"Dimauro disease") OR ("PGAM2" OR "PGAM2 syndrome" OR "PGAM2-related")MeSH descriptor terms unioned into the query: Dimauro disease
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to phosphoglycerate mutase deficiency" OR "DiMauro disease" OR "GSD due to phosphoglycerate mutase 2 deficiency" OR "GSD type 10" OR "Glycogen storage disease due to PGAM2 deficiency" OR "Glycogen storage disease due to phosphoglycerate mutase 2 deficiency" OR "Glycogen storage disease, type 10" OR "Glycogen storage disease, type X" OR "Glycogenosis due to phosphoglycerate mutase 2 deficiency" OR "Muscle phosphoglycerate mutase deficiency" OR "Myopathy due to phosphoglycerate mutase deficiency" OR "PGAM deficiency" OR "PGAM-M deficiency" OR "GSD due to phosphoglycerate mutase deficiency" OR "PGAM2 glycogen storage disease" OR "glycogen storage disease type 10" OR "glycogenosis due to phosphoglycerate mutase deficiency"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: glycogen storage disease caused by mutation in PGAM2
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 (1531) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T05:03:13.651Z