ORPHA:443811
PGM3-CDG
Also known as: CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency · PGM3-related congenital disorder of glycosylation
Publications
199
74.1th percentile
Trials
1
Interventional, condition-specific
Researchers
1,527
Distinct authors in sample
Gene link
PGM3
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of glycosylation caused by mutations in the PGM3 gene and characterized by to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including , , , dysarthria, sensorineural hearing loss, myoclonus and .
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:0014353
- MeSH:C565684
- OMIM:216920
- OMIM:615816
- UMLS:C4014371
Additional Mondo synonyms (10)
IMD23 · PGM3-EXACT congenital disorder of glycosylation · combined immunodeficiency due to PGM3 deficiency · combined inflammatory and immunologic defect · immunodeficiency 23 · immunodeficiency type 23 · immunodeficiency with hyper IgE and cognitive impairment · immunodeficiency-vasculitis-myoclonus syndrome · phosphoglucomutase 3 deficiency · phosphoglucomutase deficiency type 3
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — PGM3
- LiteraturePresent
199 matched papers (151 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 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 (PGM3).
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?
199
199 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.
199 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).
151 in the last 10 years · medium confidence · 74.1th percentile (publications denominator)
Phrase hits: 199 · MeSH hits: 0
Who's working on it?
1,527
Distinct author names in 199 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.
- 01Jaeken J9 papers · 2023
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.
Papers in Europe PMC - 02Francisco R6 papers · 2024
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisboa, Portugal.
Papers in Europe PMC - 03Videira PA6 papers · 2024
CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, 2825-149 Lisbon, Portugal.
Papers in Europe PMC - 04Dos Reis Ferreira V5 papers · 2024
CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, 2825-149 Lisbon, Portugal.
Papers in Europe PMC - 05Ferreira CR5 papers · 2024
Skeletal Genomics Unit, Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 06Freeze HH5 papers · 2024
Laboratory of Immunology, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Papers in Europe PMC - 07Milner JD5 papers · 2026
Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Building 10/CRC, Room 5-3950, Bethesda, MD 20892, USA.
Papers in Europe PMC - 08Morava E5 papers · 2023
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium. Morava-Kozicz.Eva@MAYO.edu.
Papers in Europe PMC - 09Pascoal C5 papers · 2024
CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, 2825-149 Lisbon, Portugal.
Papers in Europe PMC - 10Freeman AF4 papers · 2026
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Building 10/CRC, Room 12C103, Bethesda, MD 20892, USA. Electronic address: freemaal@mail.nih.gov.
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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th 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.
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.
None of the matched observational studies is currently listed as recruiting.
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.
"PGM3-CDG" OR "CID due to PGM3 deficiency" OR "Combined immunodeficiency due to PGM3 deficiency" OR "PGM3-related congenital disorder of glycosylation" OR "PGM3-related congenital disorder of the glycosylation" OR "IMD23" OR "PGM3-EXACT congenital disorder of glycosylation" OR "PGM3-EXACT congenital disorder of the glycosylation" OR "combined inflammatory and immunologic defect" OR "immunodeficiency 23" OR "immunodeficiency type 23" OR "immunodeficiency with hyper IgE and cognitive impairment" OR "immunodeficiency-vasculitis-myoclonus syndrome" OR "phosphoglucomutase 3 deficiency" OR "phosphoglucomutase deficiency type 3"
MeSH descriptor terms unioned into the query: Combined Inflammatory and Immunologic Defect
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"PGM3-CDG" OR "CID due to PGM3 deficiency" OR "Combined immunodeficiency due to PGM3 deficiency" OR "PGM3-related congenital disorder of glycosylation" OR "PGM3-related congenital disorder of the glycosylation" OR "IMD23" OR "PGM3-EXACT congenital disorder of glycosylation" OR "PGM3-EXACT congenital disorder of the glycosylation" OR "combined inflammatory and immunologic defect" OR "immunodeficiency 23" OR "immunodeficiency type 23" OR "immunodeficiency with hyper IgE and cognitive impairment" OR "immunodeficiency-vasculitis-myoclonus syndrome" OR "phosphoglucomutase 3 deficiency" OR "phosphoglucomutase deficiency type 3" OR "PGM3"
Recall-expansion terms: PGM3
Interventional trials matched via: recall-expansion (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 · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T16:27:20.170Z