ORPHA:79240
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Also known as: GSD due to liver and muscle phosphorylase kinase deficiency · GSD type 9B · GSD type IXb · Glycogen storage disease type 9B · Glycogen storage disease type IXb · Glycogenosis due to liver and muscle phosphorylase kinase deficiency · Glycogenosis type 9B · Glycogenosis type IXb
Publications
745
83.9th percentile
Trials
0
Interventional, condition-specific
Researchers
514
Distinct authors in sample
Gene link
PHKB
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009868
- MeSH:C563008
- OMIM:261750
- UMLS:C0543514
Additional Mondo synonyms (12)
GSD IXb · GSD9B · PHKB glycogen storage disease · PHKB-related glycogen storage disease type IX · glycogen storage disease 9B · glycogen storage disease IXb · glycogen storage disease caused by mutation in PHKB · glycogen storage disease type 9B · glycogen storage disease type IXb · glycogenosis due to liver and muscle phosphorylase kinase deficiency · glycogenosis type 9B · glycogenosis type IXb
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.
- Gene identifiedPresent
Definitive — PHKB
- LiteraturePresent
745 matched papers (540 in last 10 years) Source
- Phenotype characterisedPresent
56 HPO annotations (e.g. Diarrhea; Short stature; Reduced hepatic phosphorylase kinase activity) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (PHKB).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
56
Associated phenotypes · MONDO:0009868
- Diarrhea
- Short stature
- Reduced hepatic phosphorylase kinase activity
- Reduced tissue phosphorylase kinase activity
- Increased muscle glycogen content
Showing 5 of 56 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Phkbem1(IMPC)J/Phkb+ [background:] C57BL/6NJ-Phkbem1(IMPC)J/Mmjax·MGI:6263156·Mus musculus
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?
745
745 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.
745 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).
540 in the last 10 years · high confidence · 83.9th percentile (publications denominator)
Phrase hits: 67 · MeSH hits: 0
Who's working on it?
514
Distinct author names in 67 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.
- 01Geramizadeh B5 papers · 2024
Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran. geramib@gmail.com.
Papers in Europe PMC - 02Beyzaei Z4 papers · 2024
Shiraz Transplant Research Center (STRC), Shiraz University of Medical Sciences, Shiraz, Iran.
Papers in Europe PMC - 03Derks TGJ3 papers · 2025
Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, PO box 30 001, 9700, RB, Groningen, the Netherlands.
Papers in Europe PMC - 04Dionisi-Vici C3 papers · 2022
Division of Metabolism, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 05Ezgu F3 papers · 2024
Department of Pediatric Metabolism and Genetic, Gazi University Faculty of Medicine, Ankara, Turkey.
Papers in Europe PMC - 06Kishnani PS3 papers · 2024
Division of Medical Genetics, Department of Pediatrics, Duke University Medical School, Durham, North Carolina, USA.
Papers in Europe PMC - 07Maiorana A3 papers · 2022
Division of Metabolism, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. arianna.maiorana@opbg.net.
Papers in Europe PMC - 08Afroze B2 papers · 2022
Dr. Bushra Afroze, FCPS. Department of Paediatrics & Child Health, Aga Khan University, Karachi, Pakistan.
Papers in Europe PMC - 09Ahmed S2 papers · 2022
Dr. Sibtain Ahmed, FCPS. Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.
Papers in Europe PMC - 10Alborzi A2 papers · 2021
Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
high 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.
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
- NCT04454216·RECRUITING·GSD VI and GSD IX Natural History
Conditions: Glycogen Storage Disease VI · GLYCOGEN STORAGE DISEASE IXa1 · GLYCOGEN STORAGE DISEASE IXa2 · Glycogen Storage Disease IXB·Matched via name + MeSH
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 2026-07-30
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).
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 liver and muscle phosphorylase kinase deficiency — check Associations / patient organisations on that page.
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 liver and muscle phosphorylase kinase deficiency" OR "GSD due to liver and muscle phosphorylase kinase deficiency" OR "GSD type 9B" OR "GSD type IXb" OR "Glycogen storage disease type 9B" OR "Glycogen storage disease type IXb" OR "Glycogenosis due to liver and muscle phosphorylase kinase deficiency" OR "Glycogenosis type 9B" OR "Glycogenosis type IXb" OR "GSD IXb" OR "GSD9B" OR "PHKB glycogen storage disease" OR "PHKB-related glycogen storage disease type IX" OR "glycogen storage disease 9B" OR "glycogen storage disease IXb") OR (MESH:"Glycogen Storage Disease IXB") OR ("PHKB" OR "PHKB syndrome" OR "PHKB-related")MeSH descriptor terms unioned into the query: Glycogen Storage Disease IXB
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" OR "GSD due to liver and muscle phosphorylase kinase deficiency" OR "GSD type 9B" OR "GSD type IXb" OR "Glycogen storage disease type 9B" OR "Glycogen storage disease type IXb" OR "Glycogenosis due to liver and muscle phosphorylase kinase deficiency" OR "Glycogenosis type 9B" OR "Glycogenosis type IXb" OR "GSD IXb" OR "GSD9B" OR "PHKB glycogen storage disease" OR "PHKB-related glycogen storage disease type IX" OR "glycogen storage disease 9B" OR "glycogen storage disease IXb"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: glycogen storage disease caused by mutation in PHKB
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 2026-07-27T02:07:15.589Z