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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
31
37.8th percentile
Trials
0
Interventional, condition-specific
Researchers
193
Distinct authors in sample
Gene link
DPM2
Strong
Readiness
3/6
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — DPM2
- LiteraturePresent
31 matched papers (21 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 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)
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?
31
31 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.
31 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).
21 in the last 10 years · high confidence · 37.8th percentile (publications denominator)
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 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.
high 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.
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
- 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
- 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
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.
"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"
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" OR "DPM2" OR "muscular dystrophy-dystroglycanopathy"
Recall-expansion terms: DPM2, muscular dystrophy-dystroglycanopathy
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: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T13:45:21.281Z