DOLK-CDG (CDG-Im)

Title

Other Names:

Congenital disorder of glycosylation, type Im ; CDG Im; CDGIm; Congenital disorder of glycosylation, type Im ; CDG Im; CDGIm; DOLICHOL KINASE DEFICIENCY; DK1 DEFICIENCY; Carbohydrate deficient glycoprotein syndrome type Im; Hypotonia and ichthyosis due to dolichol phosphate deficiency; CDG syndrome type Im; CDG-Im; CDG1M; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; DK1-CDG See More

Categories:

Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders; Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders; Skin Diseases See More

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: 91131

Definition

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

Visit the Orphanet disease page for more resources.

Last updated: 4/13/2007

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
Aplasia/Hypoplasia of the nipples	Absent/small nipples Absent/underdeveloped nipples [ more ]	0006709
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Dry skin		0000958
Ichthyosis		0008064
Lipoatrophy	Loss of fat tissue in localized area	0100578
30%-79% of people have these symptoms
Abnormality of coagulation	Abnormal blood clotting	0001928
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Hepatomegaly	Enlarged liver	0002240
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Splenomegaly	Increased spleen size	0001744
5%-29% of people have these symptoms
Adactyly		0009776
Congenital hepatic fibrosis	Excessive buildup of connective tissue and scarring of liver at birth	0002612
Elevated hepatic transaminase	High liver enzymes	0002910
Muscular hypotonia	Low or weak muscle tone	0001252
Percent of people who have these symptoms is not available through HPO
Abnormal isoelectric focusing of serum transferrin		0003160
Autosomal recessive inheritance		0000007
Death in infancy	Infantile death Lethal in infancy [ more ]	0001522
Dilated cardiomyopathy	Stretched and thinned heart muscle	0001644
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Hypoketotic hypoglycemia		0001985
Hypsarrhythmia		0002521
Postnatal microcephaly		0005484
Seizures	Seizure	0001250
Sparse and thin eyebrow	Thin, sparse eyebrows	0000535
Sparse eyelashes	Scant eyelashes Scanty eyelashes Thin eyelashes [ more ]	0000653

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

Last updated: 12/1/2019

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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.

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/
Portugese Association for CDG and other Rare Metabolic Diseases (APCDG-DMR)
Website: http://www.apcdg.com/

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.

Where to Start

Genetics Home Reference (GHR) contains information on DOLK-CDG (CDG-Im). This website is maintained by the National Library of Medicine.

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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