ORPHA:79330
MOGS-CDG
Also known as: CDG syndrome type IIb · CDG-IIb · CDG2B · Carbohydrate deficient glycoprotein syndrome type IIb · Congenital disorder of glycosylation type 2b · Congenital disorder of glycosylation type IIb · Glucosidase 1 deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Clinical definition (Orphanet)
MOGS-CDG is a form of disorders of N-linked glycosylation characterized by generalized , craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, , feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).
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.
Is anyone studying this?
120
120 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=183) is 38.
120 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
80 in the last 10 years · medium confidence · 63.1th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (MOGS).
GenCC classification: Definitive.
Who's working on it?
871
Distinct author names in 120 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.
- 01Freeze HH11 papers · 2025
Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA. hudson@sanfordburnham.org
Papers in Europe PMC - 02Jaeken J10 papers · 2023
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.
Papers in Europe PMC - 03Morava E8 papers · 2025
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium. Morava-Kozicz.Eva@MAYO.edu.
Papers in Europe PMC - 04Cunningham-Rundles C6 papers · 2025
Department of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
Papers in Europe PMC - 05Lefeber DJ6 papers · 2023
Department of Neurology, Laboratory for Genetic, Endocrine and Metabolic Disease, Nijmegen, The Netherlands
Papers in Europe PMC - 06Ng BG6 papers · 2025
Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
Papers in Europe PMC - 07Picard C6 papers · 2025
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.
Papers in Europe PMC - 08Sullivan KE6 papers · 2025
Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 09Adams DR5 papers · 2022
National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
Papers in Europe PMC - 10Francisco R5 papers · 2024
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisboa, Portugal.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"MOGS-CDG" OR "CDG syndrome type IIb" OR "CDG-IIb" OR "CDG2B" OR "Carbohydrate deficient glycoprotein syndrome type IIb" OR "Congenital disorder of glycosylation type 2b" OR "Congenital disorder of glycosylation type IIb" OR "Glucosidase 1 deficiency" OR "MOGS-congenital disorder of glycosylation"
MeSH descriptor terms unioned into the query: Congenital Disorder Of Glycosylation, Type IIB
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"MOGS-CDG" OR "CDG syndrome type IIb" OR "CDG-IIb" OR "CDG2B" OR "Carbohydrate deficient glycoprotein syndrome type IIb" OR "Congenital disorder of glycosylation type 2b" OR "Congenital disorder of the glycosylation type 2b" OR "Congenital disorder of glycosylation type IIb" OR "Congenital disorder of the glycosylation type IIb" OR "Glucosidase 1 deficiency" OR "MOGS-congenital disorder of glycosylation" OR "MOGS-congenital disorder of the glycosylation" OR "Congenital Disorder Of Glycosylation, Type IIB" OR "MOGS"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C565264 OMIM:606056 UMLS:C1853736
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