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ORPHA:79329

MGAT2-CDG

low confidenceDisorder

Also known as: CDG syndrome type IIa · CDG-IIa · CDG2A · Carbohydrate deficient glycoprotein syndrome type IIa · Congenital disorder of glycosylation type 2a · Congenital disorder of glycosylation type IIa · N-acetylglucosaminyltransferase 2 deficiency

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

955

Trials

0

Interventional, condition-specific

Researchers

460

Distinct authors in sample

Gene link

MGAT2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of disorder of protein N-glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, , and varying degrees of . A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).

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 (3)

carbohydrate deficient glycoprotein syndrome type IIa · congenital disorder of glycosylation type 2a · congenital disorder of glycosylation type IIa

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.

  1. Gene identifiedPresent

    Definitive — MGAT2

  2. LiteraturePresent

    955 matched papers (591 in last 10 years) Source

  3. Phenotype characterisedPresent

    114 HPO annotations (e.g. Open mouth; Downslanted palpebral fissures; Generalized hypotonia) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (MGAT2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

114

Associated phenotypes · MONDO:0008908

  • Open mouth
  • Downslanted palpebral fissures
  • Generalized hypotonia
  • Abnormal heart morphology
  • Inverted nipples

Showing 5 of 114 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

955

955 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.

955 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).

591 in the last 10 years · low confidence

Phrase hits: 86 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

460

Distinct author names in 86 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.

  1. 01
    Jaeken J13 papers · 2023

    Department of Pediatrics, Centre for Metabolic Disease, University Hospital Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium. jaak.jaeken@uz.kuleuven.ac.be

    Papers in Europe PMC
  2. 02
    Freeze HH11 papers · 2024

    Genetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, California 92037, USA. hudson@sanfordburnham.org

    Papers in Europe PMC
  3. 03
    Lefeber DJ7 papers · 2020

    Translational Metabolic Laboratory, Radboud University Medical Center, Geert Grooteplein 10, Nijmegen, 6525 GA, The Netherlands. Dirk.Lefeber@Radboudumc.nl.

    Papers in Europe PMC
  4. 04
    Morava E6 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
  5. 05
    Ng BG6 papers · 2024

    Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.

    Papers in Europe PMC
  6. 06
    Schachter H6 papers · 2009

    Molecular Structure and Function Program, University of Toronto, Hospital for Sick Children, 555 University Avenue, Toronto, ON, Canada M5G 1X8. harry@sickkids.ca

    Papers in Europe PMC
  7. 07
    Ferreira CR5 papers · 2024

    Center for Genetic Medicine Research & Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia.

    Papers in Europe PMC
  8. 08
    Cobb BA4 papers · 2014

    Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, OH 44106 brian.cobb@case.edu.

    Papers in Europe PMC
  9. 09
    Vuillaumier-Barrot S4 papers · 2021

    AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France.

    Papers in Europe PMC
  10. 10
    Alkuraya FS3 papers · 2024

    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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.

low 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.

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 MGAT2-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.

("MGAT2-CDG" OR "CDG syndrome type IIa" OR "CDG-IIa" OR "CDG2A" OR "Carbohydrate deficient glycoprotein syndrome type IIa" OR "Congenital disorder of glycosylation type 2a" OR "Congenital disorder of the glycosylation type 2a" OR "Congenital disorder of glycosylation type IIa" OR "Congenital disorder of the glycosylation type IIa" OR "N-acetylglucosaminyltransferase 2 deficiency") OR (MESH:"Congenital disorder of glycosylation type 2A") OR ("MGAT2" OR "MGAT2 syndrome" OR "MGAT2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Congenital disorder of glycosylation type 2A

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

"MGAT2-CDG" OR "CDG syndrome type IIa" OR "CDG-IIa" OR "CDG2A" OR "Carbohydrate deficient glycoprotein syndrome type IIa" OR "Congenital disorder of glycosylation type 2a" OR "Congenital disorder of the glycosylation type 2a" OR "Congenital disorder of glycosylation type IIa" OR "Congenital disorder of the glycosylation type IIa" OR "N-acetylglucosaminyltransferase 2 deficiency"

Study-type breakdown: 0 interventional · 0 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 (955) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:18:33.711Z