ORPHA:79327
ALG1-CDG
Also known as: Carbohydrate deficient glycoprotein syndrome type Ik · Congenital disorder of glycosylation type 1k · Congenital disorder of glycosylation type Ik · Mannosyltransferase 1 deficiency · CDG syndrome type Ik · CDG-Ik · CDG1K
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
261
79.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,076
Distinct authors in sample
Gene link
ALG1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A severe form of disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular , intractable early-onset , and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, , , ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).
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:0012052
- MeSH:C535749
- OMIM:608540
- UMLS:C2931005
Additional Mondo synonyms (5)
ALG1-congenital disorder of glycosylation · carbohydrate deficient glycoprotein syndrome type Ik · congenital disorder of glycosylation type 1k · congenital disorder of glycosylation type Ik · mannosyltransferase 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 — ALG1
- LiteraturePresent
261 matched papers (205 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 (ALG1).
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?
261
261 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.
261 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).
205 in the last 10 years · medium confidence · 79.1th percentile (publications denominator)
Phrase hits: 261 · MeSH hits: 0
Who's working on it?
1,076
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.
- 01Morava E17 papers · 2026
Laboratory of Paediatrics and Neurology, Department of Paediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. E.Morava@cukz.umcn.nl
Papers in Europe PMC - 02Freeze HH15 papers · 2026
Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Papers in Europe PMC - 03Jaeken J15 papers · 2023
CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.
Papers in Europe PMC - 04Dua HS9 papers · 2026
Academic Ophthalmology, School of Medicine, University of Nottingham, Nottingham, UK.
Papers in Europe PMC - 05Ng BG9 papers · 2026
Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Papers in Europe PMC - 06Said DG9 papers · 2026
Academic Ophthalmology, School of Medicine, University of Nottingham, Nottingham, UK.
Papers in Europe PMC - 07Matthijs G8 papers · 2016
Center for Human Genetics, University of Leuven, Leuven, Belgium.
Papers in Europe PMC - 08Ting DSJ8 papers · 2024
Birmingham and Midland Eye Centre, Sandwell and West Birmingham NHS Trust, Birmingham, UK.
Papers in Europe PMC - 09He M7 papers · 2024
Division of Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA; hem@email.chop.edu.
Papers in Europe PMC - 10Kozicz T7 papers · 2025
Department of Clinical Genomics, Laboratory of Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
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.
"ALG1-CDG" OR "Carbohydrate deficient glycoprotein syndrome type Ik" OR "Congenital disorder of glycosylation type 1k" OR "Congenital disorder of the glycosylation type 1k" OR "Congenital disorder of glycosylation type Ik" OR "Congenital disorder of the glycosylation type Ik" OR "Mannosyltransferase 1 deficiency" OR "CDG syndrome type Ik" OR "CDG-Ik" OR "CDG1K" OR "ALG1-congenital disorder of glycosylation" OR "ALG1-congenital disorder of the glycosylation"
MeSH descriptor terms unioned into the query: Congenital disorder of glycosylation type 1K
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"ALG1-CDG" OR "Carbohydrate deficient glycoprotein syndrome type Ik" OR "Congenital disorder of glycosylation type 1k" OR "Congenital disorder of the glycosylation type 1k" OR "Congenital disorder of glycosylation type Ik" OR "Congenital disorder of the glycosylation type Ik" OR "Mannosyltransferase 1 deficiency" OR "CDG syndrome type Ik" OR "CDG-Ik" OR "CDG1K" OR "ALG1-congenital disorder of glycosylation" OR "ALG1-congenital disorder of the glycosylation" OR "ALG1"
Recall-expansion terms: ALG1
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 2026-07-27T02:18:10.285Z