ORPHA:435934
COG2-CDG
Also known as: COG2-related congenital disorder of glycosylation
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
8
23.5th percentile
Trials
0
Interventional, condition-specific
Researchers
30
Distinct authors in sample
Gene link
COG2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, disorder of glycosylation caused by mutations in the COG2 gene and characterized by normal presentation at birth, followed by deterioration with postnatal microcephaly, , , , spastic quadriplegia, liver dysfunction, hypocupremia and hypoceruloplasminemia in the first year of life. Diffuse cerebral atrophy and thin corpus callosum may be observed on brain MRI.
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:0054559
- OMIM:617395
- UMLS:C4479353
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
Strong — COG2
- LiteraturePresent
8 matched papers (7 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 (COG2).
GenCC classification: Strong.
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?
8
8 papers have ever been indexed 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.
8 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).
7 in the last 10 years · medium confidence · 23.5th percentile (publications denominator)
Phrase hits: 8 · MeSH hits: 0
Who's working on it?
30
Distinct author names in 8 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.
- 01Climer LK2 papers · 2018
College of Medicine, Physiology and Biophysics, UAMS, Little Rock, AR, USA.
Papers in Europe PMC - 02Ferreira CR2 papers · 2024
Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 03Freeze HH2 papers · 2024
Human Genetics Program, Sanford Children's Health Research Center, La Jolla, CA, USA. Electronic address: hudson@sbpdiscovery.org.
Papers in Europe PMC - 04Lupashin VV2 papers · 2019
Department of Physiology and Biophysics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Papers in Europe PMC - 05Altassan R1 paper · 2018
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.
Papers in Europe PMC - 06Blackburn JB1 paper · 2019
Department of Physiology and Biophysics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Papers in Europe PMC - 07Blau N1 paper · 2024
Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.
Papers in Europe PMC - 08Colantuono R1 paper · 2021
Postgraduate School of Pediatrics, Department of Medicine, Surgery and Dentistry, "Scuola Medica Salernitana", University of Salerno, Baronissi, SA, Italy.
Papers in Europe PMC - 09D'Acunto E1 paper · 2021
Postgraduate School of Pediatrics, Department of Medicine, Surgery and Dentistry, "Scuola Medica Salernitana", University of Salerno, Baronissi, SA, Italy.
Papers in Europe PMC - 10D'Souza Z1 paper · 2019
Department of Physiology and Biophysics, University of Arkansas for Medical Sciences, Little Rock, AR, 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.
"COG2-CDG" OR "COG2-related congenital disorder of glycosylation" OR "COG2-related congenital disorder of the glycosylation"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"COG2-CDG" OR "COG2-related congenital disorder of glycosylation" OR "COG2-related congenital disorder of the glycosylation" OR "COG2"
Recall-expansion terms: COG2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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 2026-07-27T16:03:52.792Z