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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 2 strategies returned hits (phrase).

Publications

10,737

Trials

2

Interventional, condition-specific

Researchers

1,223

Distinct authors in sample

Gene link

PGM1

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — PGM1

  2. LiteraturePresent

    10,737 matched papers (6,685 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Elevated circulating creatine kinase activity; Aborted sudden cardiac death; Short stature) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. D-Galactose Source

  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)

46

Associated phenotypes · MONDO:0013968

  • Elevated circulating creatine kinase activity
  • Aborted sudden cardiac death
  • Short stature
  • Decreased circulating insulin-like growth factor 1 concentration
  • Hypotonia

Showing 5 of 46 — 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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA D-GalactosePHOSPHOGLUCOMUTASE 1 DEFICIENCY · 2019-01-14 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

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?

10,737

10,737 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.

10,737 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).

6,685 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 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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

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 PGM1-CDG — 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.

("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 (MESH:"Glycogen Storage Disease XIV") OR ("PGM1" OR "PGM1 syndrome" OR "PGM1-related")

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"

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; 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 (10737) 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