ORPHA:79320
ALG6-CDG
Also known as: CDG syndrome type Ic · CDG-Ic · CDG1C · Carbohydrate deficient glycoprotein syndrome type Ic · Congenital disorder of glycosylation type 1c · Congenital disorder of glycosylation type Ic · Glucosyltransferase 1 deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
158
60.6th percentile
Trials
0
Interventional, condition-specific
Researchers
897
Distinct authors in sample
Gene link
ALG6
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A form of disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with , poor head control, , , strabismus, and , ranging from febrile convulsions to . Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).
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:0011291
- MeSH:C535741
- OMIM:603147
- UMLS:C2930997
- NCIT:C126869
Additional Mondo synonyms (10)
ALG6 congenital disorder of glycosylation · ALG6-CDG (CDG-Ic) · ALG6-CDG1C · ALG6-congenital disorder of glycosylation 1C · CDGIc · carbohydrate deficient glycoprotein syndrome type Ic · congenital disorder of glycosylation caused by mutation in ALG6 · congenital disorder of glycosylation type 1C · congenital disorder of glycosylation type Ic · glucosyltransferase 1 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.”
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
Definitive — ALG6
- LiteraturePresent
158 matched papers (72 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 (ALG6).
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?
158
158 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.
158 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).
72 in the last 10 years · medium confidence · 60.6th percentile (publications denominator)
Phrase hits: 158 · MeSH hits: 0
Who's working on it?
897
Distinct author names in 158 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.
- 01Jaeken J31 papers · 2024
Center for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium.
Papers in Europe PMC - 02Morava E25 papers · 2025
Radboud University Nijmegen Medical Centre, Institute for Genetic and Metabolic Disease, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl
Papers in Europe PMC - 03Freeze HH23 papers · 2024
Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Papers in Europe PMC - 04Matthijs G17 papers · 2016
Center for Human Genetics, University of Leuven, Leuven, Belgium.
Papers in Europe PMC - 05Lefeber DJ12 papers · 2023
Laboratory of Pediatrics & Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands. d.lefeber@cukz.umcn.nl
Papers in Europe PMC - 06Wevers RA10 papers · 2016
Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. ron.wevers@radboudumc.nl.
Papers in Europe PMC - 07Hennet T9 papers · 2016
Institute of Physiology, University of Zürich, Winterthurerstrasse 190, 8057 Zürich, Switzerland.
Papers in Europe PMC - 08Ng BG9 papers · 2024
Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Papers in Europe PMC - 09Witters P8 papers · 2024
Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
Papers in Europe PMC - 10Edmondson AC7 papers · 2025
Division of Human Genetics Department of Pediatrics Children's Hospital of Philadelphia Philadelphia PA.
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.
"ALG6-CDG" OR "CDG syndrome type Ic" OR "CDG-Ic" OR "CDG1C" OR "Carbohydrate deficient glycoprotein syndrome type Ic" OR "Congenital disorder of glycosylation type 1c" OR "Congenital disorder of the glycosylation type 1c" OR "Congenital disorder of glycosylation type Ic" OR "Congenital disorder of the glycosylation type Ic" OR "Glucosyltransferase 1 deficiency" OR "ALG6 congenital disorder of glycosylation" OR "ALG6 congenital disorder of the glycosylation" OR "ALG6-CDG (CDG-Ic)" OR "ALG6-CDG1C" OR "ALG6-congenital disorder of glycosylation 1C" OR "ALG6-congenital disorder of the glycosylation 1C" OR "CDGIc" OR "congenital disorder of glycosylation caused by mutation in ALG6" OR "congenital disorder of the glycosylation caused by mutation in ALG6"
MeSH descriptor terms unioned into the query: Congenital disorder of glycosylation type 1C
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"ALG6-CDG" OR "CDG syndrome type Ic" OR "CDG-Ic" OR "CDG1C" OR "Carbohydrate deficient glycoprotein syndrome type Ic" OR "Congenital disorder of glycosylation type 1c" OR "Congenital disorder of the glycosylation type 1c" OR "Congenital disorder of glycosylation type Ic" OR "Congenital disorder of the glycosylation type Ic" OR "Glucosyltransferase 1 deficiency" OR "ALG6 congenital disorder of glycosylation" OR "ALG6 congenital disorder of the glycosylation" OR "ALG6-CDG (CDG-Ic)" OR "ALG6-CDG1C" OR "ALG6-congenital disorder of glycosylation 1C" OR "ALG6-congenital disorder of the glycosylation 1C" OR "CDGIc" OR "congenital disorder of glycosylation caused by mutation in ALG6" OR "congenital disorder of the glycosylation caused by mutation in ALG6" OR "ALG6"
Recall-expansion terms: ALG6
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 2026-07-27T02:16:39.677Z