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ORPHA:263297

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

low confidenceDisorder

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

553

Trials

1

Interventional, condition-specific

Researchers

235

Distinct authors in sample

Gene link

GYG1

Strong

Readiness

5/6

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.

Orphanet entry

Cross-references

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

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — GYG1

  2. LiteraturePresent

    553 matched papers (457 in last 10 years) Source

  3. Phenotype characterisedPresent

    34 HPO annotations (e.g. Diabetes mellitus; Abnormal circulating creatine kinase activity; Cardiomyopathy) 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 trialPresent

    1 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)

34

Associated phenotypes · MONDO:0013291

  • Diabetes mellitus
  • Abnormal circulating creatine kinase activity
  • Cardiomyopathy
  • Ventricular fibrillation
  • Ventricular hypertrophy

Showing 5 of 34 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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

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?

553

553 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.

553 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).

457 in the last 10 years · low confidence

Phrase hits: 33 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Hedberg-Oldfors C4 papers · 2026

    Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

    Papers in Europe PMC
  2. 02
    Oldfors A4 papers · 2026

    Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

    Papers in Europe PMC
  3. 03
    Visuttijai K4 papers · 2026

    Department of Pathology and Genetics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

    Papers in Europe PMC
  4. 04
    Dellgren G3 papers · 2026

    Department of Cardiothoracic Surgery, Sahlgrenska University Hospital, Gothenburg, Sweden.

    Papers in Europe PMC
  5. 05
    Angelini 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
  6. 06
    Cetincelik U2 papers · 2026

    Department of Medical Genetics, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.

    Papers in Europe PMC
  7. 07
    Chen S2 papers · 2024

    School of Medicine, Shanghai University, Shanghai 200444, China. Electronic address: sisichen@shu.edu.cn.

    Papers in Europe PMC
  8. 08
    Comi GP2 papers · 2026

    Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

    Papers in Europe PMC
  9. 09
    Dong X2 papers · 2024

    School of Medicine, Shanghai University, Shanghai 200444, China. Electronic address: dongxin@shu.edu.cn.

    Papers in Europe PMC
  10. 10
    Duran 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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 with severe cardiomyopathy due to glycogenin 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 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" OR "GYG1 syndrome" OR "GYG1-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 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"

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: 1 interventional · 0 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

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

Ingested 2026-07-27T11:18:34.854Z