ORPHA:263297
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Also known as: GSD type 15 · GSD type XV · GSD with severe cardiomyopathy due to glycogenin deficiency · Glycogen storage disease type 15 · Glycogen storage disease type XV · Glycogenosis type 15 · Glycogenosis type XV · Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
Publications
33
43.1th percentile
Trials
2
Interventional, condition-specific
Researchers
235
Distinct authors in sample
Gene link
GYG1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare glycogen storage disease characterized by severe and cardiac dilatation potentially progressing to heart failure requiring transplantation. Cardiomyocytes show large inclusions of storage material consistent with polyglucosan. Clinical evidence of skeletal muscle involvement is usually absent.
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:0013291
- OMIM:613507
- UMLS:C3150754
Additional Mondo synonyms (6)
glycogen storage disease XV · glycogen storage disease type 15 · glycogen storage disease type XV · glycogenosis type 15 · glycogenosis type XV · glycogenosis with severe cardiomyopathy due to glycogenin 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
Strong — GYG1
- LiteraturePresent
33 matched papers (29 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 (GYG1).
GenCC classification: Strong.
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?
33
33 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.
33 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).
29 in the last 10 years · high confidence · 43.1th percentile (publications denominator)
Phrase hits: 33 · MeSH hits: 0
Who's working on it?
235
Distinct author names in 33 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.
- 01Hedberg-Oldfors C4 papers · 2026
Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Papers in Europe PMC - 02Oldfors A4 papers · 2026
Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Papers in Europe PMC - 03Visuttijai K4 papers · 2026
Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Papers in Europe PMC - 04Dellgren G3 papers · 2026
Department of Cardiothoracic Surgery, Sahlgrenska University Hospital, Gothenburg, Sweden.
Papers in Europe PMC - 05Angelini C2 papers · 2019
Department of Neurosciences (M.F.), University of Padova; Department of Biochemistry, Biophysics and General Pathology (A.T., M.S., V.N.), Second University of Naples; Telethon Institute of Genetics and Medicine (A.T., M.S., V.N.), Naples; and Fondazione San Camillo Hospital IRCCS (C.A.), Venice, Italy.
Papers in Europe PMC - 06Cetincelik U2 papers · 2026
Department of Medical Genetics, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.
Papers in Europe PMC - 07Chen S2 papers · 2024
School of Medicine, Shanghai University, Shanghai 200444, China. Electronic address: sisichen@shu.edu.cn.
Papers in Europe PMC - 08Comi GP2 papers · 2026
Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Papers in Europe PMC - 09Dong X2 papers · 2024
School of Medicine, Shanghai University, Shanghai 200444, China. Electronic address: dongxin@shu.edu.cn.
Papers in Europe PMC - 10Duran J2 papers · 2021
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona 08028, Spain; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid 28029, Spain.
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).
high 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.
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 with severe cardiomyopathy due to glycogenin deficiency" OR "GSD type 15" OR "GSD type XV" OR "GSD with severe cardiomyopathy due to glycogenin deficiency" OR "Glycogen storage disease type 15" OR "Glycogen storage disease type XV" OR "Glycogenosis type 15" OR "Glycogenosis type XV" OR "Glycogenosis with severe cardiomyopathy due to glycogenin deficiency" OR "glycogen storage disease XV"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency" OR "GSD type 15" OR "GSD type XV" OR "GSD with severe cardiomyopathy due to glycogenin deficiency" OR "Glycogen storage disease type 15" OR "Glycogen storage disease type XV" OR "Glycogenosis type 15" OR "Glycogenosis type XV" OR "Glycogenosis with severe cardiomyopathy due to glycogenin deficiency" OR "glycogen storage disease XV" OR "GYG1"
Recall-expansion terms: GYG1
Interventional trials matched via: phrase, recall-expansion (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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-27T11:18:34.854Z