ORPHA:79326
ALG2-CDG
Also known as: CDG syndrome type Ii · CDG-Ii · CDG1I · Carbohydrate deficient glycoprotein syndrome type Ii · Congenital disorder of glycosylation type 1i · Congenital disorder of glycosylation type Ii · Mannosyltransferase 2 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
367
79th percentile
Trials
0
Interventional, condition-specific
Researchers
1,272
Distinct authors in sample
Gene link
ALG2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A form of disorders of N-linked glycosylation characterized by iris coloboma, cataract, spasms, and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is .
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:0011933
- OMIM:607906
- UMLS:C1842836
Additional Mondo synonyms (8)
ALG2-congenital disorder of glycosylation · CDG 1I · CDG Ii · carbohydrate deficient glycoprotein syndrome type Ii · congenital disorder of glycosylation type 1i · congenital disorder of glycosylation type Ii · congenital disorder of glycosylation, type Ii · mannosyltransferase 2 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
Strong — ALG2
- LiteraturePresent
367 matched papers (204 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 (ALG2).
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?
367
367 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.
367 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).
204 in the last 10 years · medium confidence · 79th percentile (publications denominator)
Phrase hits: 367 · MeSH hits: 0
Who's working on it?
1,272
Distinct author names in 200 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 J27 papers · 2023
Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
Papers in Europe PMC - 02Morava E22 papers · 2024
Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium. peter.witters@uzleuven.be.
Papers in Europe PMC - 03Matthijs G19 papers · 2022
Department of Human Genetics, Centre for Human Genetics, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 04Foulquier F16 papers · 2022
CNRS, UMR 8576, Unité de Glycobiologie Structurale et Fonctionnelle (UGSF), Université de Lille, Lille, France.
Papers in Europe PMC - 05Freeze HH16 papers · 2024
Glycobiology and Carbohydrate Chemistry Program, Burnham Institute for Medical Research, 10901 N. Torrey Pines Rd., La Jolla, CA, 92037, USA. hudson@burnham.org
Papers in Europe PMC - 06Lefeber DJ15 papers · 2023
Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, 6525 AJ Nijmegen, The Netherlands.
Papers in Europe PMC - 07Ng BG11 papers · 2024
Sanford I Burnham Medical Research Institute, 10901 N. Torrey Pines Rd., La Jolla, CA 92037, USA.
Papers in Europe PMC - 08Sturiale L10 papers · 2022
CNR - Institute of Chemistry and Technology of Polymers, Via P. Gaifami 18, 95126, Catania, Italy.
Papers in Europe PMC - 09Thiel C10 papers · 2025
Georg-August-Universität Göttingen, Biochemie II, Heinrich-Düker-Weg 12, D-37073 Göttingen, Germany.
Papers in Europe PMC - 10Barone R9 papers · 2024
Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
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.
"ALG2-CDG" OR "CDG syndrome type Ii" OR "CDG-Ii" OR "CDG1I" OR "Carbohydrate deficient glycoprotein syndrome type Ii" OR "Congenital disorder of glycosylation type 1i" OR "Congenital disorder of the glycosylation type 1i" OR "Congenital disorder of glycosylation type Ii" OR "Congenital disorder of the glycosylation type Ii" OR "Mannosyltransferase 2 deficiency" OR "ALG2-congenital disorder of glycosylation" OR "ALG2-congenital disorder of the glycosylation" OR "CDG 1I" OR "CDG Ii" OR "congenital disorder of glycosylation, type Ii" OR "congenital disorder of the glycosylation, type Ii"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"ALG2-CDG" OR "CDG syndrome type Ii" OR "CDG-Ii" OR "CDG1I" OR "Carbohydrate deficient glycoprotein syndrome type Ii" OR "Congenital disorder of glycosylation type 1i" OR "Congenital disorder of the glycosylation type 1i" OR "Congenital disorder of glycosylation type Ii" OR "Congenital disorder of the glycosylation type Ii" OR "Mannosyltransferase 2 deficiency" OR "ALG2-congenital disorder of glycosylation" OR "ALG2-congenital disorder of the glycosylation" OR "CDG 1I" OR "CDG Ii" OR "congenital disorder of glycosylation, type Ii" OR "congenital disorder of the glycosylation, type Ii" OR "ALG2"
Recall-expansion terms: ALG2
Study-type breakdown: 0 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 2026-07-27T02:17:57.331Z