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ORPHA:319646

PGM1-CDG

low confidenceDisorder

Also known as: CDG syndrome type It · CDG-It · CDG1T · Congenital disorder of glycosylation type 1t · Congenital disorder of glycosylation type It · PGM1-related congenital disorder of glycosylation · Phosphoglucomutase-1 deficiency

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

7,137

Trials

2

Interventional, condition-specific

Researchers

1,223

Distinct authors in sample

Gene link

PGM1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent , and dilated and/or cardiac arrest, due to decreased phosphoglucomutase 1 activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty.

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 (4)

PGM1-congenital disorder of glycosylation · congenital disorder of glycosylation type 1t · congenital disorder of glycosylation type It · phosphoglucomutase-1 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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — PGM1

  2. LiteraturePresent

    7,137 matched papers (4,766 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (PGM1).

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?

7,137

7,137 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=5449) is 41.

7,137 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).

4,766 in the last 10 years · low confidence

Phrase hits: 7,137 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,223

Distinct author names in 200 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.

  1. 01
    Morava E37 papers · 2026

    Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  2. 02
    Radenkovic S15 papers · 2026

    Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  3. 03
    Edmondson AC14 papers · 2026

    Section of Biochemical Genetics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

    Papers in Europe PMC
  4. 04
    Kozicz T14 papers · 2026

    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  5. 05
    Budhraja R11 papers · 2026

    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  6. 06
    Pandey A11 papers · 2026

    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  7. 07
    Lam C9 papers · 2026

    Division of Genetic Medicine, University of Washington, Seattle, WA, USA.

    Papers in Europe PMC
  8. 08
    Shah R8 papers · 2026

    Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

    Papers in Europe PMC
  9. 09
    Witters P8 papers · 2026

    Department of Development and Regeneration, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.

    Papers in Europe PMC
  10. 10
    Barone R7 papers · 2026

    Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

low confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

1 observational study matches 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.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"PGM1-CDG" OR "CDG syndrome type It" OR "CDG-It" OR "CDG1T" OR "Congenital disorder of glycosylation type 1t" OR "Congenital disorder of the glycosylation type 1t" OR "Congenital disorder of glycosylation type It" OR "Congenital disorder of the glycosylation type It" OR "PGM1-related congenital disorder of glycosylation" OR "PGM1-related congenital disorder of the glycosylation" OR "Phosphoglucomutase-1 deficiency" OR "PGM1-congenital disorder of glycosylation" OR "PGM1-congenital disorder of the glycosylation"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Glycogen Storage Disease XIV

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"PGM1-CDG" OR "CDG syndrome type It" OR "CDG-It" OR "CDG1T" OR "Congenital disorder of glycosylation type 1t" OR "Congenital disorder of the glycosylation type 1t" OR "Congenital disorder of glycosylation type It" OR "Congenital disorder of the glycosylation type It" OR "PGM1-related congenital disorder of glycosylation" OR "PGM1-related congenital disorder of the glycosylation" OR "Phosphoglucomutase-1 deficiency" OR "PGM1-congenital disorder of glycosylation" OR "PGM1-congenital disorder of the glycosylation" OR "Glycogen Storage Disease XIV" OR "PGM1"

Recall-expansion terms: PGM1

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: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase

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
  • Publication count (7137) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:31:02.931Z