ORPHA:79332
B4GALT1-CDG
Also known as: Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId · CDG-IId · CDG2D · Carbohydrate deficient glycoprotein syndrome type IId · Congenital disorder of glycosylation type 2d · Congenital disorder of glycosylation type IId
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
81
52.7th percentile
Trials
0
Interventional, condition-specific
Researchers
515
Distinct authors in sample
Gene link
B4GALT1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
B4GALT1-CDG is a disorder of glycosylation characterised by macrocephaly due to Dandy-Walker , hydrocephaly, , and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus beta-1,4-galactosyl transferase.
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:0011772
- MeSH:C535753
- OMIM:607091
- UMLS:C2931009
Additional Mondo synonyms (4)
B4GALT1-congenital disorder of glycosylation · carbohydrate deficient glycoprotein syndrome type IId · congenital disorder of glycosylation type 2d · congenital disorder of glycosylation type IId
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — B4GALT1
- LiteraturePresent
81 matched papers (48 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 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 (B4GALT1).
GenCC classification: Strong.
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?
81
81 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.
81 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).
48 in the last 10 years · medium confidence · 52.7th percentile (publications denominator)
Phrase hits: 81 · MeSH hits: 0
Who's working on it?
515
Distinct author names in 81 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.
- 01Freeze HH9 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 - 02Morava E8 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 - 03Jaeken J7 papers · 2023
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.
Papers in Europe PMC - 04Lefeber 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 - 05Ng BG6 papers · 2024
Human Genetics Program, Sanford Children's Health Research Center, La Jolla, CA, USA.
Papers in Europe PMC - 06van Scherpenzeel M4 papers · 2018
Translational Metabolic Laboratory, Radboud University Medical Center, Geert Grooteplein 10, Nijmegen, 6525 GA, The Netherlands.
Papers in Europe PMC - 07Abu Bakar N3 papers · 2025
Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Geert Grooteplein 10, Nijmegen, 6525 DA, The Netherlands.
Papers in Europe PMC - 08Ferreira CR3 papers · 2024
Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 09Francisco R3 papers · 2024
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisboa, Portugal.
Papers in Europe PMC - 10Thiel C3 papers · 2025
Pediatric I, Center for Pediatric and Adolescent Medicine, Medical Faculty of Heidelberg, Heidelberg, Germany.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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.
"B4GALT1-CDG" OR "Beta-1,4-galactosyltransferase deficiency" OR "CDG syndrome type IId" OR "CDG-IId" OR "CDG2D" OR "Carbohydrate deficient glycoprotein syndrome type IId" OR "Congenital disorder of glycosylation type 2d" OR "Congenital disorder of the glycosylation type 2d" OR "Congenital disorder of glycosylation type IId" OR "Congenital disorder of the glycosylation type IId" OR "B4GALT1-congenital disorder of glycosylation" OR "B4GALT1-congenital disorder of the glycosylation"
MeSH descriptor terms unioned into the query: Congenital disorder of glycosylation type 2D
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"B4GALT1-CDG" OR "Beta-1,4-galactosyltransferase deficiency" OR "CDG syndrome type IId" OR "CDG-IId" OR "CDG2D" OR "Carbohydrate deficient glycoprotein syndrome type IId" OR "Congenital disorder of glycosylation type 2d" OR "Congenital disorder of the glycosylation type 2d" OR "Congenital disorder of glycosylation type IId" OR "Congenital disorder of the glycosylation type IId" OR "B4GALT1-congenital disorder of glycosylation" OR "B4GALT1-congenital disorder of the glycosylation" OR "B4GALT1"
Recall-expansion terms: B4GALT1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T02:19:05.866Z