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ORPHA:715

Glycogen storage disease due to muscle phosphorylase kinase deficiency

low confidenceDisorder

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

Publications

728

Trials

0

Interventional, condition-specific

Researchers

403

Distinct authors in sample

Gene link

PHKA1

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — PHKA1

  2. LiteraturePresent

    728 matched papers (470 in last 10 years) Source

  3. Phenotype characterisedPresent

    34 HPO annotations (e.g. Elevated circulating creatine kinase activity; Difficulty climbing stairs; Camptocormia) Source

  4. Animal modelPresent

    2 genotype models (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 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)

34

Associated phenotypes · MONDO:0010362

  • Elevated circulating creatine kinase activity
  • Difficulty climbing stairs
  • Camptocormia
  • Exercise intolerance
  • Increased muscle glycogen content

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

Animal models (Monarch / Alliance)

2

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?

728

728 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.

728 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).

470 in the last 10 years · low confidence

Phrase hits: 68 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Chae 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
  2. 02
    Huard 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
  3. 03
    Kishnani PS3 papers · 2025

    Division of Medical Genetics, Department of Pediatrics, Duke University Medical School, Durham, North Carolina, USA.

    Papers in Europe PMC
  4. 04
    Kolovou G3 papers · 2019

    Cardiology Department, Onassis Cardiac Surgery Center, Athens, Greece.

    Papers in Europe PMC
  5. 05
    Lee 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
  6. 06
    Mavrogeni S3 papers · 2019

    Cardiology Department, Onassis Cardiac Surgery Center, Athens, Greece.

    Papers in Europe PMC
  7. 07
    Baronio F2 papers · 2026

    Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.

    Papers in Europe PMC
  8. 08
    Bhattarai 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
  9. 09
    Biasucci G2 papers · 2026

    Pediatrics and Neonatology Unit, Guglielmo da Saliceto Hospital, 29121 Piacenza, Italy.

    Papers in Europe PMC
  10. 10
    Candela 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 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 2026-07-29

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 muscle phosphorylase kinase 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 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 "PHKA1 syndrome" OR "PHKA1-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 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"

Study-type breakdown: 0 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

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
  • Publication count (728) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T15:00:42.890Z