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ORPHA:356961

SLC35A2-CDG

low confidenceDisorder

Also known as: CDG-IIm · CDG2M · Congenital disorder of glycosylation type 2m · Congenital disorder of glycosylation type IIm · CDG syndrome type IIm

Publications

1,259

Trials

2

Interventional, condition-specific

Researchers

1,013

Distinct authors in sample

Gene link

SLC35A2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, disorder of glycosylation characterized by severe or profound global , early epileptic , muscular , features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).

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)

SLC35A2-congenital disorder of glycosylation · congenital disorder of glycosylation type 2m · congenital disorder of glycosylation type IIm · congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant

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 — SLC35A2

  2. LiteraturePresent

    1,259 matched papers (877 in last 10 years) Source

  3. Phenotype characterisedPresent

    115 HPO annotations (e.g. Gastroesophageal reflux; Seizure; Hypotonia) 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

    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 (SLC35A2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

115

Associated phenotypes · MONDO:0010478

  • Gastroesophageal reflux
  • Seizure
  • Hypotonia
  • Oligohydramnios
  • Cerebral atrophy

Showing 5 of 115 — 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

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?

1,259

1,259 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.

1,259 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).

877 in the last 10 years · low confidence

Phrase hits: 141 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,013

Distinct author names in 141 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 E20 papers · 2025

    Center of Individualized Medicine, Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium. Electronic address: morava-kozicz.eva@mayo.edu.

    Papers in Europe PMC
  2. 02
    Freeze HH15 papers · 2025

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

    Papers in Europe PMC
  3. 03
    Jaeken J12 papers · 2026

    CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, 2825-149 Lisbon, Portugal.

    Papers in Europe PMC
  4. 04
    Ng BG12 papers · 2025

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

    Papers in Europe PMC
  5. 05
    Barone R10 papers · 2025

    Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

    Papers in Europe PMC
  6. 06
    Lefeber DJ10 papers · 2026

    United for Metabolic Diseases, Amsterdam, Netherlands.

    Papers in Europe PMC
  7. 07
    Witters P9 papers · 2025

    Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium.

    Papers in Europe PMC
  8. 08
    Cassiman D6 papers · 2025

    Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Aging, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium.

    Papers in Europe PMC
  9. 09
    Edmondson AC6 papers · 2024

    Division of Human Genetics, Department of Pediatrics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

    Papers in Europe PMC
  10. 10
    Ferreira CR6 papers · 2026

    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Rare Disease Institute, Children's National Health System, Washington, DC, United States.

    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.

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 SLC35A2-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.

("SLC35A2-CDG" OR "CDG-IIm" OR "CDG2M" OR "Congenital disorder of glycosylation type 2m" OR "Congenital disorder of the glycosylation type 2m" OR "Congenital disorder of glycosylation type IIm" OR "Congenital disorder of the glycosylation type IIm" OR "CDG syndrome type IIm" OR "SLC35A2-congenital disorder of glycosylation" OR "SLC35A2-congenital disorder of the glycosylation" OR "congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant" OR "congenital disorder of the glycosylation, type IIm, Somatic mosaicism, X-linked dominant") OR ("SLC35A2" OR "SLC35A2 syndrome" OR "SLC35A2-related")

Run this search on Europe PMC

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

"SLC35A2-CDG" OR "CDG-IIm" OR "CDG2M" OR "Congenital disorder of glycosylation type 2m" OR "Congenital disorder of the glycosylation type 2m" OR "Congenital disorder of glycosylation type IIm" OR "Congenital disorder of the glycosylation type IIm" OR "CDG syndrome type IIm" OR "SLC35A2-congenital disorder of glycosylation" OR "SLC35A2-congenital disorder of the glycosylation" OR "congenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominant" OR "congenital disorder of the glycosylation, type IIm, Somatic mosaicism, X-linked dominant"

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

Query health: ok — strategies attempted: phrase; 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 (1259) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T14:28:00.462Z