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

DDOST-CDG (CDG-Ir)


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:
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: 300536

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: 7/1/2016

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
Seizure 0001250
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Tremor 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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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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