ORPHA:86309
DPAGT1-CDG
Also known as: CDG syndrome type Ij · CDG-Ij · CDG1J · Carbohydrate deficient glycoprotein syndrome type Ij · Congenital disorder of glycosylation type 1j · Congenital disorder of glycosylation type Ij · Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
691
Trials
0
Interventional, condition-specific
Researchers
620
Distinct authors in sample
Gene link
DPAGT1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
DPAGT1-CDG is a form of disorders of N-linked glycosylation characterized by , intractable , , microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).
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:0011964
- MeSH:C535748
- OMIM:608093
- UMLS:C2931004
- NCIT:C126874
Additional Mondo synonyms (6)
CDGIj · DPAGT1-congenital disorder of glycosylation · carbohydrate deficient glycoprotein syndrome type Ij · congenital disorder of glycosylation type 1j · congenital disorder of glycosylation type Ij · dolichyl-phosphate N-acetylgalactosamine phosphotransferase 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 — DPAGT1
- LiteraturePresent
691 matched papers (498 in last 10 years) Source
- Phenotype characterisedPresent
98 HPO annotations (e.g. Decreased fetal movement; Fetal akinesia sequence; Seizure) 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 (DPAGT1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
98
Associated phenotypes · MONDO:0011964
- Decreased fetal movement
- Fetal akinesia sequence
- Seizure
- Failure to thrive
- Hypsarrhythmia
Showing 5 of 98 — 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 2026-07-29
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?
691
691 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.
691 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).
498 in the last 10 years · low confidence
Phrase hits: 88 · MeSH hits: 0
Who's working on it?
620
Distinct author names in 88 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 HH14 papers · 2024
Human Genetics Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA;
Papers in Europe PMC - 02Morava E9 papers · 2025
Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.
Papers in Europe PMC - 03Ng BG9 papers · 2024
Human Genetics Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA;
Papers in Europe PMC - 04Jaeken J8 papers · 2023
Center for Metabolic Disease, Katholieke Universiteit Leuven, BE-3000 Leuven, Belgium. jaak.jaeken@uzleuven.be
Papers in Europe PMC - 05Beeson D7 papers · 2019
Nuffield Department fo Clinical Neuroscience, Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford, UK.
Papers in Europe PMC - 06Belaya K6 papers · 2018
Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, UK.
Papers in Europe PMC - 07Eklund EA5 papers · 2024
Department of Cell and Molecular Biology, Lund University, Lund, Sweden.
Papers in Europe PMC - 08Liu WW5 papers · 2018
Neurosciences Group, Nuffield Department of Clinical Neuroscience, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK.
Papers in Europe PMC - 09Tylki-Szymańska A5 papers · 2021
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Papers in Europe PMC - 10Chow CY4 papers · 2024
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, United States of America.
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 11 September 2026 · last trial check 11 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 2026-07-30
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 DPAGT1-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.
("DPAGT1-CDG" OR "CDG syndrome type Ij" OR "CDG-Ij" OR "CDG1J" OR "Carbohydrate deficient glycoprotein syndrome type Ij" OR "Congenital disorder of glycosylation type 1j" OR "Congenital disorder of the glycosylation type 1j" OR "Congenital disorder of glycosylation type Ij" OR "Congenital disorder of the glycosylation type Ij" OR "Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency" OR "CDGIj" OR "DPAGT1-congenital disorder of glycosylation" OR "DPAGT1-congenital disorder of the glycosylation") OR (MESH:"Congenital disorder of glycosylation type 1J") OR ("DPAGT1" OR "DPAGT1 syndrome" OR "DPAGT1-related")MeSH descriptor terms unioned into the query: Congenital disorder of glycosylation type 1J
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"DPAGT1-CDG" OR "CDG syndrome type Ij" OR "CDG-Ij" OR "CDG1J" OR "Carbohydrate deficient glycoprotein syndrome type Ij" OR "Congenital disorder of glycosylation type 1j" OR "Congenital disorder of the glycosylation type 1j" OR "Congenital disorder of glycosylation type Ij" OR "Congenital disorder of the glycosylation type Ij" OR "Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency" OR "CDGIj" OR "DPAGT1-congenital disorder of glycosylation" OR "DPAGT1-congenital disorder of the glycosylation"
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 (691) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:04:31.848Z