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ORPHA:79318

PMM2-CDG

low confidenceDisorder

Also known as: CDG syndrome type Ia · CDG-Ia · CDG1A · Carbohydrate deficient glycoprotein syndrome type Ia · Congenital disorder of glycosylation type 1a · Congenital disorder of glycosylation type Ia · Phosphomannomutase 2 deficiency

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

Publications

1,999

Trials

5

Interventional, condition-specific

Researchers

1,021

Distinct authors in sample

Gene link

PMM2

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and . 3 forms of PMM2-CDG can be distinguished: the multisystem type, late- and childhood - type (3-10 yrs old), and the adult stable disability type. Infants usually develop , psychomotor delay and extraneurological manifestations including , enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (7)

CDG 1A · CDG-IA · PMM2-congenital disorder of glycosylation · carbohydrate deficient glycoprotein syndrome type Ia · congenital disorder of glycosylation type 1a · congenital disorder of glycosylation type Ia · phosphomannomutase 2 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 — PMM2

  2. LiteraturePresent

    1,999 matched papers (1,291 in last 10 years) Source

  3. Phenotype characterisedPresent

    157 HPO annotations (e.g. Joint hypermobility; High palate; Strabismus) 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. 2-(4-oxo-3-((5-(trifluoromethyl)benzo[d]thiazol-2-yl)methyl)-3,4-dihydrothieno[3,4-d]pyridazin-1-yl)acetic acid Source

  6. Interventional trialPresent

    5 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 (PMM2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

157

Associated phenotypes · MONDO:0008907

  • Joint hypermobility
  • High palate
  • Strabismus
  • Wide mouth
  • Thin upper lip vermilion

Showing 5 of 157 — 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 2-(4-oxo-3-((5-(trifluoromethyl)benzo[d]thiazol-2-yl)methyl)-3,4-dihydrothieno[3,4-d]pyridazin-1-yl)acetic acidPhosphomannomutase 2 deficiency · 2020-09-21 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0008907

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,999

1,999 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.

1,999 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).

1,291 in the last 10 years · low confidence

Phrase hits: 947 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,021

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 E38 papers · 2026

    Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, KU Leuven, Leuven, Belgium; Tulane University Medical School, Department of Pediatrics, New Orleans, LA, USA. Electronic address: emoravakozicz@tulane.edu.

    Papers in Europe PMC
  2. 02
    Jaeken J18 papers · 2025

    Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  3. 03
    Lam C18 papers · 2026

    Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA.

    Papers in Europe PMC
  4. 04
    Edmondson AC17 papers · 2026

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

    Papers in Europe PMC
  5. 05
    Kozicz T17 papers · 2026

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

    Papers in Europe PMC
  6. 06
    Serrano M13 papers · 2025

    Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.

    Papers in Europe PMC
  7. 07
    Radenkovic S12 papers · 2025

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

    Papers in Europe PMC
  8. 08
    Witters P11 papers · 2025

    Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  9. 09
    Pérez B10 papers · 2024

    Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Investigación Sanitaria IdiPAZ, Madrid, Spain.

    Papers in Europe PMC
  10. 10
    Budhraja R9 papers · 2025

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

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 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

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

low confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

5 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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).

Uncertain / not reviewed (3)

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 PMM2-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.

("PMM2-CDG" OR "CDG syndrome type Ia" OR "CDG-Ia" OR "CDG1A" OR "Carbohydrate deficient glycoprotein syndrome type Ia" OR "Congenital disorder of glycosylation type 1a" OR "Congenital disorder of the glycosylation type 1a" OR "Congenital disorder of glycosylation type Ia" OR "Congenital disorder of the glycosylation type Ia" OR "Phosphomannomutase 2 deficiency" OR "CDG 1A" OR "PMM2-congenital disorder of glycosylation" OR "PMM2-congenital disorder of the glycosylation") OR (MESH:"Congenital disorder of glycosylation type 1A") OR ("PMM2" OR "PMM2 syndrome" OR "PMM2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Congenital disorder of glycosylation type 1A

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

"PMM2-CDG" OR "CDG syndrome type Ia" OR "CDG-Ia" OR "CDG1A" OR "Carbohydrate deficient glycoprotein syndrome type Ia" OR "Congenital disorder of glycosylation type 1a" OR "Congenital disorder of the glycosylation type 1a" OR "Congenital disorder of glycosylation type Ia" OR "Congenital disorder of the glycosylation type Ia" OR "Phosphomannomutase 2 deficiency" OR "CDG 1A" OR "PMM2-congenital disorder of glycosylation" OR "PMM2-congenital disorder of the glycosylation"

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: 5 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 (1999) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T02:15:59.471Z