ORPHA:713
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Also known as: GSD due to phosphoglycerate kinase 1 deficiency · Glycogenosis due to phosphoglycerate kinase 1 deficiency
Publications
15,432
Trials
1
Interventional, condition-specific
Researchers
508
Distinct authors in sample
Gene link
PGK1
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare inborn errors of metabolism characterized by variable combinations of non-spherocytic hemolytic anemia, , and various central nervous system abnormalities.
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:0010392
- MeSH:C567067
- OMIM:300653
- UMLS:C1970848
- NCIT:C126738
Additional Mondo synonyms (6)
PGK1 glycogen storage disease · Phosphoglycerate Kinase Deficiency · glycogen storage disease caused by mutation in PGK1 · glycogen storage disease due to phosphoglycerate kinase 1 deficiency · glycogenosis due to phosphoglycerate kinase 1 deficiency · phosphoglycerate kinase 1 deficiency, X-linked recessive
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — PGK1
- LiteraturePresent
15,432 matched papers (10,316 in last 10 years) Source
- Phenotype characterisedPresent
40 HPO annotations (e.g. Delayed speech and language development; Intellectual disability; Muscle weakness) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (PGK1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
40
Associated phenotypes · MONDO:0010392
- Delayed speech and language development
- Intellectual disability
- Muscle weakness
- Tremor
- Hemolytic anemia
Showing 5 of 40 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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?
15,432
15,432 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
15,432 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).
10,316 in the last 10 years · low confidence
Phrase hits: 137 · MeSH hits: 0
Who's working on it?
508
Distinct author names in 137 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.
- 01DiMauro S10 papers · 2018
Department of Neurology, Columbia University Medical Center, New York, USA. sd12@columbia.edu
Papers in Europe PMC - 02Sugie H10 papers · 2022
Department of Pediatrics, Hamamatsu University School of Medicine, Japan.
Papers in Europe PMC - 03Sugie Y7 papers · 2001Papers in Europe PMC
- 04Ito M5 papers · 1998
Department of Pediatrics, Hamamatsu University School of Medicine.
Papers in Europe PMC - 05Paglia DE5 papers · 2017
d UCLA Hematology Research Laboratory , UCLA School of Medicine , Little River , CA , USA.
Papers in Europe PMC - 06Tsurui S5 papers · 1995
Department of Pediatric Neurology, Hamamatsu City Medical Center for Developmental Medicine.
Papers in Europe PMC - 07Valentine WN5 papers · 1975Papers in Europe PMC
- 08Barcellini W4 papers · 2021
Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 09Bianchi P4 papers · 2020
UOC Ematologia, UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy.
Papers in Europe PMC - 10Fermo E4 papers · 2020
UOC Ematologia, UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy.
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 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 phosphoglycerate kinase 1 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 phosphoglycerate kinase 1 deficiency" OR "GSD due to phosphoglycerate kinase 1 deficiency" OR "Glycogenosis due to phosphoglycerate kinase 1 deficiency" OR "PGK1 glycogen storage disease" OR "Phosphoglycerate Kinase Deficiency" OR "phosphoglycerate kinase 1 deficiency, X-linked recessive") OR ("PGK1" OR "PGK1 syndrome" OR "PGK1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Glycogen storage disease due to phosphoglycerate kinase 1 deficiency" OR "GSD due to phosphoglycerate kinase 1 deficiency" OR "Glycogenosis due to phosphoglycerate kinase 1 deficiency" OR "PGK1 glycogen storage disease" OR "Phosphoglycerate Kinase Deficiency" OR "phosphoglycerate kinase 1 deficiency, X-linked recessive"
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
Synonyms dropped by stoplist: glycogen storage disease caused by mutation in PGK1
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 (15432) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T15:00:08.598Z