Congenital disorders of glycosylation

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Other Names:

CDG; Carbohydrate-deficient glycoprotein syndromes; Congenital disorder of glycosylation

Categories:

Digestive Diseases; Eye diseases

Subtypes:

ALG11-CDG (CDG-Ip); ALG12-CDG (CDG-Ig); ALG13-CDG; ALG11-CDG (CDG-Ip); ALG12-CDG (CDG-Ig); ALG13-CDG; ALG1-CDG (CDG-Ik); ALG2-CDG (CDG-Ii); ALG3-CDG (CDG-Id); ALG6-CDG (CDG-Ic); ALG8-CDG (CDG-Ih); ALG9-CDG (CDG-IL); B4GALT1-CDG (CDG-IId); CAD-CDG; COG1-CDG (CDG-IIg); COG4-CDG (CDG-IIj); COG5-CDG (CDG-IIi); COG6-CDG (CDG-IIL); COG7-CDG (CDG-IIe); COG8-CDG (CDG-IIh); Congenital disorder of glycosylation type I/IIX; DDOST-CDG (CDG-Ir); DHDDS-CDG; DOLK-CDG (CDG-Im); DPAGT1-CDG (CDG-Ij); DPM1-CDG (CDG-Ie); DPM2-CDG; DPM3-CDG (CDG-Io); GM3 synthase deficiency; GMPPA-CDG; MAN1B1-CDG; MGAT2-CDG (CDG-IIa); MOGS-CDG (CDG-IIb); MPDU1-CDG (CDG-If); MPI-CDG (CDG-Ib); PMM2-CDG (CDG-Ia); RFT1-CDG (CDG-In); SLC35A1-CDG (CDG-IIf); SLC35C1-CDG (CDG-IIc); SRD5A3-CDG (CDG-Iq) ; SSR4-CDG; STT3A-CDG and STT3B-CDG; TMEM165-CDG (CDG-IIk); TUSC3-CDG See More

Summary Summary

Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG.^[1] CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.^[2]

Last updated: 9/21/2011

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
Abnormal circulating carbohydrate concentration		0011013
Abnormal subcutaneous fat tissue distribution	Abnormal fat tissue distribution below the skin	0007552
Abnormality of coagulation		0001928
Abnormality of immune system physiology		0010978
Abnormality of retinal pigmentation		0007703
Aplasia/Hypoplasia of the cerebellum	Absent/small cerebellum Absent/underdeveloped cerebellum [ more ]	0007360
Aplasia/Hypoplasia of the nipples	Absent/small nipples Absent/underdeveloped nipples [ more ]	0006709
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Elevated hepatic transaminase	High liver enzymes	0002910
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Global developmental delay		0001263
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Wide intermamillary distance	Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ]	0006610
30%-79% of people have these symptoms
Abnormal pericardium morphology		0001697
Abnormality of vision	Abnormality of sight Vision issue [ more ]	0000504
Broad forehead	Increased width of the forehead Wide forehead [ more ]	0000337
Cardiomyopathy	Disease of the heart muscle	0001638
Hypergonadotropic hypogonadism		0000815
Hypoglycemia	Low blood sugar	0001943
Seizure		0001250
5%-29% of people have these symptoms
Abnormal intestine morphology	Abnormality of the intestine	0002242
Ascites	Accumulation of fluid in the abdomen	0001541
Decreased liver function	Liver dysfunction	0001410
Nephropathy		0000112
Peripheral neuropathy		0009830

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

Last updated: 1/1/2021

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Prognosis Prognosis

Because CDG type Ix can be caused by different enzyme deficiencies (and the deficiency in this type is typically not known), the symptoms and prognosis cannot be predicted. The various types of CDG often have different symptoms and a different prognosis. Even individuals with the same type of CDG may not have the same symptoms and prognosis.

Last updated: 9/23/2013

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/

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).

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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

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
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.
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 Congenital disorders of glycosylation. Click on the link to view a sample search on this topic.

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. Submit a new question

What are the symptoms and prognosis for individuals with CDG Ix? We are pending tests results from an institute in Belgium to obtain a more specific diagnosis for my 13-month-old son. He has had a liver transplant at 6 months due to liver failure, coagulopathy, ascites, protein losing enteropathy (?), failure to thrive, and hypoglycemia. CT and MRI do not show any brain abnormalities. He does not yet crawl or stand on his own, possibly because he was hospitalized for four months. I am worried about his developmental delay. He does have minimal delay in speech. See answer

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References References

About CDG. The CDG Family Network. August 2010; http://www.cdgs.com/_about.html. Accessed 9/21/2011.
Sparks E, Krasnewich DM. Congenital Disorders of Glycosylation Overview. GeneReviews . August 2011; http://www.ncbi.nlm.nih.gov/books/NBK1332/. Accessed 9/21/2011.

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