DPM1-CDG (CDG-Ie)

Title

Other Names:

CDG 1E; CDG1E; Carbohydrate-deficient glycoprotein syndrome type 1E; CDG 1E; CDG1E; Carbohydrate-deficient glycoprotein syndrome type 1E; DPM1-CDG (CDG-Ie); CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG syndrome type Ie; CDG-Ie; Dol-P-mannosyltransferase deficiency; Congenital disorder of glycosylation type 1e; Carbohydrate deficient glycoprotein syndrome type Ie; Congenital disorder of glycosylation type Ie; DPM1-CDG See More

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

This disease is grouped under:

Congenital disorders of glycosylation

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 79322

Disease definition

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

Epidemiology

The syndrome has been described in seven children.

Etiology

It is caused by mutations in the DPM gene (localised to the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1.

Visit the Orphanet disease page for more resources.

Last updated: 12/15/2006

Symptoms Symptoms

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
Abnormality of vision	Abnormality of sight Vision issue [ more ]	0000504
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Muscular hypotonia	Low or weak muscle tone	0001252
Seizures	Seizure	0001250
Severe global developmental delay		0011344
Percent of people who have these symptoms is not available through HPO
Abnormal macular morphology		0001103
Ankle contracture		0006466
Ataxia		0001251
Autosomal recessive inheritance		0000007
Camptodactyly	Permanent flexion of the finger or toe	0012385
Cerebral visual impairment		0100704
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
EEG abnormality		0002353
Elevated serum creatine phosphokinase	Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine kinase 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
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Flat occiput		0005469
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hemangioma	Strawberry mark	0001028
Hepatomegaly	Enlarged liver	0002240
High, narrow palate	Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ]	0002705
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Knee flexion contracture		0006380
Lower limb hyperreflexia	Overactive lower leg reflex	0002395
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Muscular dystrophy		0003560
Nail dysplasia	Atypical nail growth	0002164
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Optic atrophy		0000648
Patent ductus arteriosus		0001643
Pontocerebellar atrophy		0006879
Postnatal microcephaly		0005484
Progressive	Worsens with time	0003676
Prolonged partial thromboplastin time		0003645
Reduced antithrombin III activity		0001976
Reduced protein C activity		0005543
Reduced protein S activity		0004855
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
Retinopathy	Noninflammatory retina disease	0000488
Short palm		0004279
Small hand	Disproportionately small hands	0200055
Smooth philtrum		0000319
Splenomegaly	Increased spleen size	0001744
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Telangiectasia		0001009
Tremor	Tremors	0001337
Type I transferrin isoform profile		0003642
Upper limb undergrowth	Short arms Shortening of the arms [ more ]	0009824
Variable expressivity		0003828

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to DPM1-CDG (CDG-Ie). Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

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

CDG CARE
PO Box 38832
Colorado Springs, CO 80937
Toll-free: (866) 295-7910
E-mail: info@cdgcare.com
Website: http://cdgcare.com/

Social Networking Websites

RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Do you know of an organization? We want to hear from you.

Learn More Learn More

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.
PubMed is a searchable database of medical literature and lists journal articles that discuss DPM1-CDG (CDG-Ie). Click on the link to view a sample search on this topic.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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