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 2 strategies returned hits (phrase).
Publications
1,433
Trials
0
Interventional, condition-specific
Researchers
871
Distinct authors in sample
Gene link
MOGS
Definitive
Readiness
3/6
Stages with a signal
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011629
- MeSH:C565264
- OMIM:606056
- UMLS:C1853736
Additional Mondo synonyms (5)
MOGS-congenital disorder of glycosylation · carbohydrate deficient glycoprotein syndrome type IIb · congenital disorder of glycosylation type 2b · congenital disorder of glycosylation type IIb · glucosidase 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.”
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
Definitive — MOGS
- LiteraturePresent
1,433 matched papers (957 in last 10 years) Source
- Phenotype characterisedPresent
74 HPO annotations (e.g. Hirsutism; Seizure; Abnormal facial shape) 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 (MOGS).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
74
Associated phenotypes · MONDO:0011629
- Hirsutism
- Seizure
- Abnormal facial shape
- Decreased circulating IgA concentration
- Decreased circulating IgM concentration
Showing 5 of 74 — 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 2026-07-27
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?
1,433
1,433 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.
1,433 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).
957 in the last 10 years · low confidence
Phrase hits: 120 · MeSH hits: 0
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
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 9 September 2026 · last trial check 9 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 2026-07-27
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 MOGS-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.
("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 (MESH:"Congenital Disorder Of Glycosylation, Type IIB") OR ("MOGS" OR "MOGS syndrome" OR "MOGS-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 (1433) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T02:16:22.785Z