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 2 strategies returned hits (phrase).
Publications
1,757
Trials
0
Interventional, condition-specific
Researchers
515
Distinct authors in sample
Gene link
B4GALT1
Strong
Readiness
3/6
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.”
3/6 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
1,757 matched papers (1,370 in last 10 years) Source
- Phenotype characterisedPresent
45 HPO annotations (e.g. Prolonged partial thromboplastin time; Hydrocephalus; Hypertelorism) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
45
Associated phenotypes · MONDO:0011772
- Prolonged partial thromboplastin time
- Hydrocephalus
- Hypertelorism
- Diarrhea
- Hepatomegaly
Showing 5 of 45 — 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?
1,757
1,757 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.
1,757 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).
1,370 in the last 10 years · low confidence
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)
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 B4GALT1-CDG — check Associations / patient organisations on that page.
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") OR (MESH:"Congenital disorder of glycosylation type 2D") OR ("B4GALT1" OR "B4GALT1 syndrome" OR "B4GALT1-related")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"
Study-type breakdown: 0 interventional · 0 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 (1757) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T02:19:05.866Z