ORPHA:79324
ALG12-CDG
Also known as: Congenital disorder of glycosylation type Ig · Mannosyltransferase 8 deficiency · CDG syndrome type Ig · CDG-Ig · CDG1G · Carbohydrate deficient glycoprotein syndrome type Ig · Congenital disorder of glycosylation type 1g
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
322
79th percentile
Trials
0
Interventional, condition-specific
Researchers
1,368
Distinct authors in sample
Gene link
ALG12
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A form of disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized , feeding difficulties, moderate to severe , microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).
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:0011783
- MeSH:C535745
- OMIM:607143
- UMLS:C2931001
- NCIT:C126873
Additional Mondo synonyms (6)
ALG12-congenital disorder of glycosylation · CDGIg · carbohydrate deficient glycoprotein syndrome type Ig · congenital disorder of glycosylation type 1g · congenital disorder of glycosylation type Ig · mannosyltransferase 8 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 — ALG12
- LiteraturePresent
322 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 (ALG12).
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?
322
322 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.
322 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: 322 · MeSH hits: 0
Who's working on it?
1,368
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 J12 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 - 02Morava E12 papers · 2024
Department of Clinical Genomics, Laboratory of Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. Morava-Kozicz.Eva@Mayo.edu.
Papers in Europe PMC - 03Freeze HH10 papers · 2024
Laboratory of Immunology, National Institutes of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Papers in Europe PMC - 04Chantret I5 papers · 2025
INSERM U1149, Faculté de Médecine Xavier Bichat, 16 rue Henri Huchard, Paris, France.
Papers in Europe PMC - 05Edmondson AC5 papers · 2024
Division of Human Genetics Department of Pediatrics Children's Hospital of Philadelphia Philadelphia PA.
Papers in Europe PMC - 06Ferreira CR5 papers · 2024
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.
Papers in Europe PMC - 07Ng BG5 papers · 2024
Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA.
Papers in Europe PMC - 08
- 09Barone R4 papers · 2024
Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute, IRCCS, Troina, Italy.
Papers in Europe PMC - 10Dupré T4 papers · 2025
INSERM U1149, Faculté de Médecine Xavier Bichat, 16 rue Henri Huchard, Paris, France.
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.
"ALG12-CDG" OR "Congenital disorder of glycosylation type Ig" OR "Congenital disorder of the glycosylation type Ig" OR "Mannosyltransferase 8 deficiency" OR "CDG syndrome type Ig" OR "CDG-Ig" OR "CDG1G" OR "Carbohydrate deficient glycoprotein syndrome type Ig" OR "Congenital disorder of glycosylation type 1g" OR "Congenital disorder of the glycosylation type 1g" OR "ALG12-congenital disorder of glycosylation" OR "ALG12-congenital disorder of the glycosylation" OR "CDGIg"
MeSH descriptor terms unioned into the query: Congenital disorder of glycosylation type 1G
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"ALG12-CDG" OR "Congenital disorder of glycosylation type Ig" OR "Congenital disorder of the glycosylation type Ig" OR "Mannosyltransferase 8 deficiency" OR "CDG syndrome type Ig" OR "CDG-Ig" OR "CDG1G" OR "Carbohydrate deficient glycoprotein syndrome type Ig" OR "Congenital disorder of glycosylation type 1g" OR "Congenital disorder of the glycosylation type 1g" OR "ALG12-congenital disorder of glycosylation" OR "ALG12-congenital disorder of the glycosylation" OR "CDGIg" OR "ALG12"
Recall-expansion terms: ALG12
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 2026-07-27T02:17:33.153Z