DDOST-CDG (CDG-Ir)

Title

Other Names:

Congenital disorder of glycosylation, type Ir ; CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation, type Ir ; CDG syndrome type Ir; CDG-Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type ; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders; Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders; Nervous System 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: 300536

Disease definition

DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).

Visit the Orphanet disease page for more resources.

Last updated: 7/25/2016

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 the coagulation cascade		0003256
Accelerated skeletal maturation	Advanced bone age Early bone maturation [ more ]	0005616
CNS hypomyelination		0003429
Constipation		0002019
Elevated hepatic transaminase	High liver enzymes	0002910
Esotropia	Inward turning cross eyed	0000565
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hepatic steatosis	Fatty infiltration of liver Fatty liver [ more ]	0001397
Neurodevelopmental delay		0012758
Neurological speech impairment	Speech disorder Speech impairment Speech impediment [ more ]	0002167
Oromotor apraxia		0007301
Osteopenia		0000938
Recurrent ear infections	Frequent ear infections	0410018
Seizures	Seizure	0001250
Short stature	Decreased body height Small stature [ more ]	0004322
Tremor	Tremors	0001337
Type I transferrin isoform profile		0003642
5%-29% of people have these symptoms
Dry skin		0000958
Lipodystrophy	Inability to make and keep healthy fat tissue	0009125
1%-4% of people have these symptoms
Nephrotic range proteinuria		0012593
Primary hypothyroidism		0000832
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance		0000007
Decreased liver function	Liver dysfunction	0001410
Global developmental delay		0001263
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486

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

Last updated: 6/1/2019

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

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.

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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

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