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
Publications
1,319
Trials
0
Interventional, condition-specific
Researchers
1,272
Distinct authors in sample
Gene link
ALG2
Strong
Readiness
3/6
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.”
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 — ALG2
- LiteraturePresent
1,319 matched papers (855 in last 10 years) Source
- Phenotype characterisedPresent
89 HPO annotations (e.g. Abnormal circulating enzyme concentration or activity; Microcephaly; Seizure) 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 (ALG2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
89
Associated phenotypes · MONDO:0011933
- Abnormal circulating enzyme concentration or activity
- Microcephaly
- Seizure
- Widened subarachnoid space
- Hyperintensity of cerebral white matter on MRI
Showing 5 of 89 — 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?
1,319
1,319 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.
1,319 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).
855 in the last 10 years · low confidence
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 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 ALG2-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.
("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" OR "ALG2 syndrome" OR "ALG2-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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 (1319) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T02:17:57.331Z