ORPHA:448010
CAD-CDG
Also known as: CDG syndrome type Iz · CDG-Iz · CDG1Z · Carbohydrate deficient glycoprotein syndrome type Iz · Congenital disorder of glycosylation type 1z
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
41
50.1th percentile
Trials
0
Interventional, condition-specific
Researchers
235
Distinct authors in sample
Gene link
CAD
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic , global , normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.
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:0014647
- OMIM:616457
- UMLS:C4225320
Additional Mondo synonyms (6)
DEE50 · EIEE50 · carbohydrate deficient glycoprotein syndrome type Iz · congenital disorder of glycosylation type 1z · developmental and epileptic encephalopathy 50 · epileptic encephalopathy, early infantile, 50
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 — CAD
- LiteraturePresent
41 matched papers (41 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 (CAD).
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?
41
41 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.
41 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).
41 in the last 10 years · medium confidence · 50.1th percentile (publications denominator)
Phrase hits: 41 · MeSH hits: 0
Who's working on it?
235
Distinct author names in 41 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 E6 papers · 2023
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium. Morava-Kozicz.Eva@MAYO.edu.
Papers in Europe PMC - 02Freeze HH5 papers · 2024
Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address: hudson@sbpdiscovery.org.
Papers in Europe PMC - 03Jaeken J5 papers · 2023
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.
Papers in Europe PMC - 04Ng BG5 papers · 2024
Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
Papers in Europe PMC - 05Andreotti G3 papers · 2023
Istituto di Chimica Biomolecolare-Consiglio Nazionale delle Ricerche (CNR), 80078 Pozzuoli, Italy. gandreotti@icb.cnr.it.
Papers in Europe PMC - 06Ferreira CR3 papers · 2024
Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 07Francisco R3 papers · 2022
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Lisboa, Portugal.
Papers in Europe PMC - 08He M3 papers · 2026
Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 09Bao X2 papers · 2024
Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China. zwhang@pku.edu.cn.
Papers in Europe PMC - 10Brasil S2 papers · 2022
Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal. s.arduim@gmail.com.
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.
"CAD-CDG" OR "CDG syndrome type Iz" OR "CDG-Iz" OR "CDG1Z" OR "Carbohydrate deficient glycoprotein syndrome type Iz" OR "Congenital disorder of glycosylation type 1z" OR "Congenital disorder of the glycosylation type 1z" OR "DEE50" OR "EIEE50" OR "developmental and epileptic encephalopathy 50" OR "epileptic encephalopathy, early infantile, 50"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CAD-CDG" OR "CDG syndrome type Iz" OR "CDG-Iz" OR "CDG1Z" OR "Carbohydrate deficient glycoprotein syndrome type Iz" OR "Congenital disorder of glycosylation type 1z" OR "Congenital disorder of the glycosylation type 1z" OR "DEE50" OR "EIEE50" OR "developmental and epileptic encephalopathy 50" OR "epileptic encephalopathy, early infantile, 50" OR "CAD"
Recall-expansion terms: CAD
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 2026-07-27T16:36:04.549Z