ORPHA:715
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Also known as: GSD due to muscle phosphorylase kinase deficiency · GSD type 9D · GSD type 9E · GSD type IXd · GSD type IXe · Glycogen storage disease type 9D · Glycogen storage disease type 9E · Glycogen storage disease type IXd · Glycogen storage disease type IXe · Glycogenosis due to muscle phosphorylase kinase deficiency · Glycogenosis type 9D · Glycogenosis type 9E · Glycogenosis type IXd · Glycogenosis type IXe
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
68
51.6th percentile
Trials
0
Interventional, condition-specific
Researchers
403
Distinct authors in sample
Gene link
PHKA1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance.
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:0010362
- MeSH:C564485
- OMIM:300559
- UMLS:C1845151
Additional Mondo synonyms (13)
GSD IXd · GSD9D · PHKA1 glycogen storage disease · PHKA1-related glycogen storage disease type IX · glycogen storage disease caused by mutation in PHKA1 · glycogen storage disease due to muscle phosphorylase kinase deficiency · glycogen storage disease type 9D · glycogen storage disease type IXd · glycogenosis due to muscle phosphorylase kinase deficiency · glycogenosis type 9D · glycogenosis type IXd · muscle glycogenosis, X-linked recessive · muscle phosphorylase kinase 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.”
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
Definitive — PHKA1
- LiteraturePresent
68 matched papers (45 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 (PHKA1).
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?
68
68 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.
68 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).
45 in the last 10 years · high confidence · 51.6th percentile (publications denominator)
Phrase hits: 68 · MeSH hits: 0
Who's working on it?
403
Distinct author names in 68 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.
- 01Chae HJ3 papers · 2023
Department of Pharmacology and Institute of New Drug Development, School of Medicine, Chonbuk National University, Jeonju 54896, Korea. hjchae@jbnu.ac.kr.
Papers in Europe PMC - 02Huard J3 papers · 2019
Growth and Development Laboratory, Children's Hospital of Pittsburgh, Department of Orthopaedic Surgery, Molecular Genetics and Biochemistry, University of Pittsburgh, Pittsburgh, Pennsylvania, USA. jhuard+@pitt.edu
Papers in Europe PMC - 03Kishnani PS3 papers · 2025
Division of Medical Genetics, Department of Pediatrics, Duke University Medical School, Durham, North Carolina, USA.
Papers in Europe PMC - 04Kolovou G3 papers · 2019
Cardiology Department, Onassis Cardiac Surgery Center, Athens, Greece.
Papers in Europe PMC - 05Lee HY3 papers · 2023
Department of Pharmacology and Institute of New Drug Development, School of Medicine, Chonbuk National University, Jeonju 54896, Korea. youngat84@jbnu.ac.kr.
Papers in Europe PMC - 06Mavrogeni S3 papers · 2019
Cardiology Department, Onassis Cardiac Surgery Center, Athens, Greece.
Papers in Europe PMC - 07Baronio F2 papers · 2026
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Papers in Europe PMC - 08Bhattarai KR2 papers · 2018
Department of Pharmacology and Institute of New Drug Development, School of Medicine, Chonbuk National University, Jeonju 54896, Korea. meekasik@jbnu.ac.kr.
Papers in Europe PMC - 09Biasucci G2 papers · 2026
Pediatrics and Neonatology Unit, Guglielmo da Saliceto Hospital, 29121 Piacenza, Italy.
Papers in Europe PMC - 10Candela E2 papers · 2026
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Papers 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 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.
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 phosphorylase kinase deficiency" OR "GSD due to muscle phosphorylase kinase deficiency" OR "GSD type 9D" OR "GSD type 9E" OR "GSD type IXd" OR "GSD type IXe" OR "Glycogen storage disease type 9D" OR "Glycogen storage disease type 9E" OR "Glycogen storage disease type IXd" OR "Glycogen storage disease type IXe" OR "Glycogenosis due to muscle phosphorylase kinase deficiency" OR "Glycogenosis type 9D" OR "Glycogenosis type 9E" OR "Glycogenosis type IXd" OR "Glycogenosis type IXe" OR "GSD IXd" OR "GSD9D" OR "PHKA1 glycogen storage disease" OR "PHKA1-related glycogen storage disease type IX" OR "muscle glycogenosis, X-linked recessive" OR "muscle phosphorylase kinase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to muscle phosphorylase kinase deficiency" OR "GSD due to muscle phosphorylase kinase deficiency" OR "GSD type 9D" OR "GSD type 9E" OR "GSD type IXd" OR "GSD type IXe" OR "Glycogen storage disease type 9D" OR "Glycogen storage disease type 9E" OR "Glycogen storage disease type IXd" OR "Glycogen storage disease type IXe" OR "Glycogenosis due to muscle phosphorylase kinase deficiency" OR "Glycogenosis type 9D" OR "Glycogenosis type 9E" OR "Glycogenosis type IXd" OR "Glycogenosis type IXe" OR "GSD IXd" OR "GSD9D" OR "PHKA1 glycogen storage disease" OR "PHKA1-related glycogen storage disease type IX" OR "muscle glycogenosis, X-linked recessive" OR "muscle phosphorylase kinase deficiency" OR "PHKA1" OR "disorder of glycogen metabolism"
Recall-expansion terms: PHKA1, disorder of glycogen metabolism
Study-type breakdown: 0 interventional · 0 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 PHKA1
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 2026-07-26T15:00:42.890Z