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

DOLK-CDG (CDG-Im)


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:
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: 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: 4/1/2007

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 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
Seizure 0001250
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ] 		0000653
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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.

Where to Start

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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