ORPHA:439854
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Also known as: Fatal congenital hypertrophic cardiomyopathy due to glycogenosis · Fatal congenital hypertrophic cardiomyopathy due to GSD
Publications
11
27.5th percentile
Trials
0
Interventional, condition-specific
Researchers
124
Distinct authors in sample
Gene link
PRKAG2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare glycogen storage disease characterized by fetal or onset of severe with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and . Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases.
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:0009867
- MeSH:C564888
- OMIM:261740
- UMLS:C1849813
Additional Mondo synonyms (5)
PRKAG2 glycogen storage disease · fatal congenital hypertrophic cardiomyopathy due to GSD · fatal congenital hypertrophic cardiomyopathy due to glycogenosis · glycogen storage disease caused by mutation in PRKAG2 · phosphorylase kinase deficiency of heart
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.”
2/6 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 — PRKAG2
- LiteraturePresent
11 matched papers (10 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 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 (PRKAG2).
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?
11
11 papers have ever been indexed 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.
11 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).
10 in the last 10 years · high confidence · 27.5th percentile (publications denominator)
Phrase hits: 11 · MeSH hits: 0
Who's working on it?
124
Distinct author names in 11 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.
- 01Gollob MH3 papers · 2022
Inherited Arrhythmia and Cardiomyopathy Program, Division of Cardiology University of Toronto Toronto ON Canada.
Papers in Europe PMC - 02Ackerman MJ2 papers · 2022
Departments of Cardiovascular Medicine, Pediatric and Adolescent Medicine, and Molecular Pharmacology & Experimental Therapeutics; Divisions of Heart Rhythm Services and Pediatric Cardiology; Windland Smith Rice Genetic Heart Rhythm Clinic and Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic Rochester MN USA.
Papers in Europe PMC - 03Aiba T2 papers · 2022
Department of Clinical Laboratory Medicine and Genetics, National Cerebral and Cardiovascular Center, Suita Osaka Japan.
Papers in Europe PMC - 04Ashley EA2 papers · 2022
Department of Cardiovascular Medicine Stanford University Stanford CA USA.
Papers in Europe PMC - 05Barajas-Martinez H2 papers · 2022
Cardiovascular Research Lankenau Institute of Medical Research Wynnewood PA USA.
Papers in Europe PMC - 06Behr ER2 papers · 2022
Cardiovascular Clinical Academic Group, Institute of Molecular and Clinical Sciences, St. George's University of London; St. George's University Hospitals NHS Foundation Trust London UKMayo Clinic HealthcareLondon.
Papers in Europe PMC - 07Bezzina CR2 papers · 2022
Amsterdam UMC Heart Center, Department of Experimental Cardiology Amsterdam The Netherlands.
Papers in Europe PMC - 08Bollmann A2 papers · 2022
Department of Electrophysiology Heart Center Leipzig at University of Leipzig Leipzig Germany.
Papers in Europe PMC - 09Breckpot J2 papers · 2022
Center for Human Genetics University Hospitals Leuven Leuven Belgium.
Papers in Europe PMC - 10
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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Observational and natural-history studies
2 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 recall expansion
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.
"Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease" OR "Fatal congenital hypertrophic cardiomyopathy due to glycogenosis" OR "Fatal congenital hypertrophic cardiomyopathy due to GSD" OR "PRKAG2 glycogen storage disease" OR "phosphorylase kinase deficiency of heart" OR "phosphorylase kinase deficiency of the heart"
MeSH descriptor terms unioned into the query: Glycogen Storage Disease of Heart, Lethal Congenital
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease" OR "Fatal congenital hypertrophic cardiomyopathy due to glycogenosis" OR "Fatal congenital hypertrophic cardiomyopathy due to GSD" OR "PRKAG2 glycogen storage disease" OR "phosphorylase kinase deficiency of heart" OR "phosphorylase kinase deficiency of the heart" OR "Glycogen Storage Disease of Heart, Lethal Congenital" OR "PRKAG2" OR "disorder of glycogen metabolism" OR "PRKAG2-related cardiomyopathy" OR "familial cardiomyopathy"
Recall-expansion terms: PRKAG2, disorder of glycogen metabolism, PRKAG2-related cardiomyopathy, familial cardiomyopathy
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: glycogen storage disease caused by mutation in PRKAG2
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 2026-07-27T16:19:31.723Z