ORPHA:329178
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Also known as: CDG syndrome type Iu · CDG-Iu · CDG1U · CMD with intellectual disability and severe epilepsy · Carbohydrate deficient glycoprotein syndrome type Iu · Congenital disorder of glycosylation type 1u · Congenital disorder of glycosylation type Iu · DPM2-CDG
Publications
586
Trials
0
Interventional, condition-specific
Researchers
193
Distinct authors in sample
Gene link
DPM2
Strong
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare, fatal, inborn error of metabolism disorder characterized by respiratory distress and severe at birth, severe global , early-onset intractable , myopathic facies with craniofacial dysmorphism (trigonocephaly/ microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild , and hypoplastic genitalia may also be associated.
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:0014023
- OMIM:615042
- UMLS:C5190603
Additional Mondo synonyms (3)
carbohydrate deficient glycoprotein syndrome type Iu · congenital disorder of glycosylation type 1u · congenital disorder of glycosylation type Iu
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — DPM2
- LiteraturePresent
586 matched papers (366 in last 10 years) Source
- Phenotype characterisedPresent
66 HPO annotations (e.g. Thin upper lip vermilion; High palate; Primitive reflex) 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 trialPartial
None under the specific name; 7 for broader category congenital muscular dystrophy
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 (DPM2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
66
Associated phenotypes · MONDO:0014023
- Thin upper lip vermilion
- High palate
- Primitive reflex
- Global developmental delay
- Decreased O-mannosyl glycans on alpha-dystroglycan
Showing 5 of 66 — 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?
586
586 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.
586 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).
366 in the last 10 years · low confidence
Phrase hits: 31 · MeSH hits: 0
Who's working on it?
193
Distinct author names in 31 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.
- 01Jaeken J6 papers · 2023
Metabolic Center, Department of Pediatrics, University Hospitals Leuven, Herestraat 49, B-3000, Leuven, Belgium.
Papers in Europe PMC - 02Morava 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 - 03He X4 papers · 2025
Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 04Hu Y4 papers · 2025
Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 05Huang Y4 papers · 2025
Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 06Zhang L4 papers · 2025
Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 07Zhao P4 papers · 2025
Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 08Barone R3 papers · 2016
Department of Pediatrics, Pediatric Neurology, University of Catania, Catania, Italy.
Papers in Europe PMC - 09Fiumara A3 papers · 2016
Department of Pediatrics, Pediatric Neurology, University of Catania, Catania, Italy.
Papers in Europe PMC - 10Freeze HH3 papers · 2024
Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, 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). 7 trials are registered for congenital muscular dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
7 interventional trials matched congenital muscular dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: congenital muscular dystrophy
7
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT05982119·RECRUITING·Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study
Conditions: Duchenne Muscular Dystrophy · Fascioscapulohumeral Muscular Dystrophy · Myotonic Dystrophy 1 · Charcot-Marie-Tooth·Matched via name phrase
- NCT05394506·RECRUITING·Modifying Factors in Striated Muscle Laminopathies
Conditions: Laminopathies · Emery Dreifuss Muscular Dystrophy 2 · LMNA-Related Congenital Muscular Dystrophy · Dilated Cardiomyopathy-1A·Matched via name phrase
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 Congenital muscular dystrophy with intellectual disability and severe epilepsy — 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.
("Congenital muscular dystrophy with intellectual disability and severe epilepsy" OR "CDG syndrome type Iu" OR "CDG-Iu" OR "CDG1U" OR "CMD with intellectual disability and severe epilepsy" OR "Carbohydrate deficient glycoprotein syndrome type Iu" OR "Congenital disorder of glycosylation type 1u" OR "Congenital disorder of the glycosylation type 1u" OR "Congenital disorder of glycosylation type Iu" OR "Congenital disorder of the glycosylation type Iu" OR "DPM2-CDG") OR ("DPM2" OR "DPM2 syndrome" OR "DPM2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital muscular dystrophy with intellectual disability and severe epilepsy" OR "CDG syndrome type Iu" OR "CDG-Iu" OR "CDG1U" OR "CMD with intellectual disability and severe epilepsy" OR "Carbohydrate deficient glycoprotein syndrome type Iu" OR "Congenital disorder of glycosylation type 1u" OR "Congenital disorder of the glycosylation type 1u" OR "Congenital disorder of glycosylation type Iu" OR "Congenital disorder of the glycosylation type Iu" OR "DPM2-CDG"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"congenital muscular dystrophy"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (586) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T13:45:21.281Z