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ORPHA:79319

MPI-CDG

medium confidenceDisorder

Also known as: CDG syndrome type Ib · CDG-Ib · CDG1B · Carbohydrate deficient glycoprotein syndrome type Ib · Congenital disorder of glycosylation type 1b · Congenital disorder of glycosylation type Ib · Phosphomannose isomerase deficiency

Publications

360

66.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,076

Distinct authors in sample

Gene link

MPI

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

MPI-CDG is a form of disorders of N-linked glycosylation, characterized by cyclic vomiting, profound , , liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombin III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

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 (5)

CDG syndrome type IB · carbohydrate deficient glycoprotein syndrome type IB · congenital disorder of glycosylation type 1b · congenital disorder of glycosylation type IB · phosphomannose isomerase 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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — MPI

  2. LiteraturePresent

    360 matched papers (184 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Hypoalbuminemia; Abnormality of the coagulation cascade; Reduced antithrombin antigen) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

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

  6. 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 (MPI).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

46

Associated phenotypes · MONDO:0011257

  • Hypoalbuminemia
  • Abnormality of the coagulation cascade
  • Reduced antithrombin antigen
  • Hyperinsulinemic hypoglycemia
  • Edema

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)

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

1

Drugs / clinical candidates · MONDO_0011257

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

360

360 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=3967) is 59.

360 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).

184 in the last 10 years · medium confidence · 66.7th percentile (publications denominator)

Phrase hits: 327 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,076

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
    Freeze HH34 papers · 2025

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

    Papers in Europe PMC
  2. 02
    Jaeken J26 papers · 2023

    Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  3. 03
    Morava E24 papers · 2026

    Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium. peter.witters@uzleuven.be.

    Papers in Europe PMC
  4. 04
    Ng BG14 papers · 2025

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

    Papers in Europe PMC
  5. 05
    Matthijs G13 papers · 2022

    Department of Human Genetics, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  6. 06
    De Lonlay P10 papers · 2026

    Département de Pédiatrie, Hôpital des Enfants-Malades, Paris, France.

    Papers in Europe PMC
  7. 07
    Lefeber DJ10 papers · 2025

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

    Papers in Europe PMC
  8. 08
    Witters P10 papers · 2024

    Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

    Papers in Europe PMC
  9. 09
    He M9 papers · 2024

    Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

    Papers in Europe PMC
  10. 10
    Edmondson AC8 papers · 2025

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

    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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th 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

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 MPI-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.

("MPI-CDG" OR "CDG syndrome type Ib" OR "CDG-Ib" OR "CDG1B" OR "Carbohydrate deficient glycoprotein syndrome type Ib" OR "Congenital disorder of glycosylation type 1b" OR "Congenital disorder of the glycosylation type 1b" OR "Congenital disorder of glycosylation type Ib" OR "Congenital disorder of the glycosylation type Ib" OR "Phosphomannose isomerase deficiency") OR (MESH:"Congenital disorder of glycosylation type 1B") OR ("MPI syndrome" OR "MPI-related")

Run this search on Europe PMC

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

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

"MPI-CDG" OR "CDG syndrome type Ib" OR "CDG-Ib" OR "CDG1B" OR "Carbohydrate deficient glycoprotein syndrome type Ib" OR "Congenital disorder of glycosylation type 1b" OR "Congenital disorder of the glycosylation type 1b" OR "Congenital disorder of glycosylation type Ib" OR "Congenital disorder of the glycosylation type Ib" OR "Phosphomannose isomerase deficiency"

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

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 2026-07-27T02:16:18.237Z