National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

DPM3-CDG (CDG-Io)


Other Names:
Congenital disorder of glycosylation, type Io ; CDG Io; CDGIo; Congenital disorder of glycosylation, type Io ; CDG Io; CDGIo; CDG1(DPM3); CDG syndrome type Io; CDG-Io; Carbohydrate deficient glycoprotein syndrome type Io; DG1O; Congenital disorder of glycosylation type Io; CDG1O; DPM3-CDG; Congenital disorder of glycosylation type 1o See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 263494

Definition
DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2012

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Decreased sialylation of O-linked protein glycosylation 0012363
30%-79% of people have these symptoms
Babinski sign 0003487
Calf muscle hypertrophy
Increased size of calf muscles
0008981
Chest pain 0100749
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Elevated creatine kinase after exercise 0008331
Elevated hepatic transaminase
High liver enzymes
0002910
Intellectual disability, profound
IQ less than 20
0002187
Muscular dystrophy 0003560
Pelvic girdle muscle weakness 0003749
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Reduced tendon reflexes 0001315
Rimmed vacuoles 0003805
Stroke-like episode 0002401
Percent of people who have these symptoms is not available through HPO
Adult onset
Symptoms begin in adulthood
0003581
Autosomal recessive inheritance 0000007
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] 		0003236
Gowers sign 0003391
Increased variability in muscle fiber diameter 0003557
Muscle weakness
Muscular weakness
0001324
Type I transferrin isoform profile 0003642
Unsteady gait
Unsteady walk
0002317
Waddling gait
'Waddling' gait
Waddling walk
[ more ] 		0002515
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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