DPM3-congenital disorder of glycosylation
Findings
No curated finding names DPM3-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.
Definition from the Mondo Disease Ontology (MONDO:0013049), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset · Juvenile onset
HPO, annotations 2026-09-02
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Dilated cardiomyopathyHPOHP:0001644
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Gowers signHPOHP:0003391
- 1 of 1 reported patient
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 1 reported patient
- Limb-girdle muscular dystrophyHPOHP:0006785
- 1 of 1 reported patient
Show the remaining 12
- Waddling gaitHPOHP:0002515
- 1 of 1 reported patient
- Decreased sialylation of O-linked protein glycosylationHPOHP:0012363
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- Calf muscle hypertrophyHPOHP:0008981
- Frequent (30% to 79% of cases)
- Chest painHPOHP:0100749
- Frequent (30% to 79% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DPM3HGNC:3007
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: DPM3-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IoCDG syndrome type IoCDG-IoCDG1Ocongenital disorder of glycosylation type 1ocongenital disorder of glycosylation type IoDPM3-CDGmuscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15