ORPHA:300536
DDOST-CDG
Also known as: CDG syndrome type Ir · CDG-Ir · CDG1R · Carbohydrate deficient glycoprotein syndrome type Ir · Congenital disorder of glycosylation type 1r · Congenital disorder of glycosylation type Ir
Publications
715
Trials
0
Interventional, condition-specific
Researchers
258
Distinct authors in sample
Gene link
DDOST
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
DDOST-CDG is a form of disorders of N-linked glycosylation characterized by , , , strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).
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:0013789
- OMIM:614507
- UMLS:C3281084
Additional Mondo synonyms (4)
DDOST-congenital disorder of glycosylation · carbohydrate deficient glycoprotein syndrome type Ir · congenital disorder of glycosylation type 1r · congenital disorder of glycosylation type Ir
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 — DDOST
- LiteraturePresent
715 matched papers (534 in last 10 years) Source
- Phenotype characterisedPresent
35 HPO annotations (e.g. Failure to thrive; Constipation; Elevated circulating hepatic transaminase concentration) 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 (DDOST).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
35
Associated phenotypes · MONDO:0013789
- Failure to thrive
- Constipation
- Elevated circulating hepatic transaminase concentration
- Abnormality of the coagulation cascade
- CNS hypomyelination
Showing 5 of 35 — 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?
715
715 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.
715 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).
534 in the last 10 years · low confidence
Phrase hits: 34 · MeSH hits: 0
Who's working on it?
258
Distinct author names in 34 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 HH8 papers · 2026
Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA. hudson@sanfordburnham.org
Papers in Europe PMC - 02Ng BG7 papers · 2026
Human Genetics Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA;
Papers in Europe PMC - 03Morava E6 papers · 2024
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium. Morava-Kozicz.Eva@MAYO.edu.
Papers in Europe PMC - 04He M5 papers · 2026
Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pathology and Laboratory of Medicine, University of Pennsylvania, Philadelphia, PA. hem@email.chop.edu.
Papers in Europe PMC - 05Jaeken J3 papers · 2023
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.
Papers in Europe PMC - 06Raymond K3 papers · 2021
Mayo Biochemical Genetics Laboratory, Mayo Medical School, Rochester, MN;
Papers in Europe PMC - 07Starosta RT3 papers · 2024
Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. r.starosta@wustl.edu.
Papers in Europe PMC - 08Edmondson AC2 papers · 2024
Section of Biochemical Genetics, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Papers in Europe PMC - 09Eklund EA2 papers · 2024
Department of Clinical Sciences, Lund University, Lund, Sweden; Department of Pediatrics, Skåne University Hospital, Lund, Sweden.
Papers in Europe PMC - 10Ferreira CR2 papers · 2024
Medical Genetics Branch National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 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 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 DDOST-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.
("DDOST-CDG" OR "CDG syndrome type Ir" OR "CDG-Ir" OR "CDG1R" OR "Carbohydrate deficient glycoprotein syndrome type Ir" OR "Congenital disorder of glycosylation type 1r" OR "Congenital disorder of the glycosylation type 1r" OR "Congenital disorder of glycosylation type Ir" OR "Congenital disorder of the glycosylation type Ir" OR "DDOST-congenital disorder of glycosylation" OR "DDOST-congenital disorder of the glycosylation") OR ("DDOST" OR "DDOST syndrome" OR "DDOST-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"DDOST-CDG" OR "CDG syndrome type Ir" OR "CDG-Ir" OR "CDG1R" OR "Carbohydrate deficient glycoprotein syndrome type Ir" OR "Congenital disorder of glycosylation type 1r" OR "Congenital disorder of the glycosylation type 1r" OR "Congenital disorder of glycosylation type Ir" OR "Congenital disorder of the glycosylation type Ir" OR "DDOST-congenital disorder of glycosylation" OR "DDOST-congenital disorder of the glycosylation"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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 (715) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T12:41:40.949Z