ORPHA:356961
SLC35A2-CDG
Also known as: CDG-IIm · CDG2M · Congenital disorder of glycosylation type 2m · Congenital disorder of glycosylation type IIm · CDG syndrome type IIm
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
141
70.8th percentile
Trials
2
Interventional, condition-specific
Researchers
1,013
Distinct authors in sample
Gene link
SLC35A2
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010478
- OMIM:300896
- UMLS:C3806688
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — SLC35A2
- LiteraturePresent
141 matched papers (129 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
141
141 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=5449) is 41.
141 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
129 in the last 10 years · medium confidence · 70.8th percentile (publications denominator)
Phrase hits: 141 · MeSH hits: 0
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.
- 01Morava 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 - 02Freeze HH15 papers · 2025
Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Papers in Europe PMC - 03Jaeken 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 - 04Ng BG12 papers · 2025
Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Papers in Europe PMC - 05Barone R10 papers · 2025
Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Papers in Europe PMC - 06Lefeber DJ10 papers · 2026
United for Metabolic Diseases, Amsterdam, Netherlands.
Papers in Europe PMC - 07Witters P9 papers · 2025
Metabolic Center, University Hospitals Leuven, 3000 Leuven, Belgium.
Papers in Europe PMC - 08Cassiman 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 - 09Edmondson AC6 papers · 2024
Division of Human Genetics, Department of Pediatrics, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Papers in Europe PMC - 10Ferreira 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 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th 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.
- NCT05402384·NOT YET RECRUITING·AVTX-801 D-galactose Supplementation in SLC35A2-CDG
Conditions: SLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of Glycosylation·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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" OR "SLC35A2"
Recall-expansion terms: SLC35A2
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: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T14:28:00.462Z