COG7-CDG (CDG-IIe)

Title

Other Names:

CDG 2E; CDG2E; Congenital disorder of glycosylation type 2e; CDG 2E; CDG2E; Congenital disorder of glycosylation type 2e; Congenital disorder of glycosylation type IIe; Carbohydrate deficient glycoprotein syndrome type IIe; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation, type IIe See More

Categories:

Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders; Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders; Nervous System Diseases; 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: 79333

Definition

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

Visit the Orphanet disease page for more resources.

Last updated: 12/1/2006

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 immune system physiology		0010978
Hypertrophic cardiomyopathy	Enlarged and thickened heart muscle	0001639
Muscular hypotonia	Low or weak muscle tone	0001252
1%-4% of people have these symptoms
Seizure		0001250
Percent of people who have these symptoms is not available through HPO
Abnormal facial shape	Unusual facial appearance	0001999
Abnormal heart morphology	Abnormality of the heart Abnormally shaped heart Heart defect [ more ]	0001627
Abnormality of the pinna	Abnormally shaped ears Auricular malformation Deformed ears Malformed ears [ more ]	0000377
Adducted thumb	Inward turned thumb	0001181
Autosomal recessive inheritance		0000007
Cerebellar atrophy	Degeneration of cerebellum	0001272
Cerebral atrophy	Degeneration of cerebrum	0002059
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Decreased liver function	Liver dysfunction	0001410
Delayed myelination		0012448
Elevated hepatic transaminase	High liver enzymes	0002910
Elevated serum creatine kinase	Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ]	0003236
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Flat forehead	Flattened forehead	0004425
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hepatomegaly	Enlarged liver	0002240
Hydronephrosis		0000126
Hypertrichosis		0000998
Hypoglycemia	Low blood sugar	0001943
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Inverted nipples		0003186
Jaundice	Yellow skin Yellowing of the skin [ more ]	0000952
Low anterior hairline	Low frontal hairline Low-set frontal hairline [ more ]	0000294
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Narrow forehead	Decreased width of the forehead	0000341
Narrow mouth	Small mouth	0000160
Neurogenic bladder	Lack of bladder control due to nervous system injury	0000011
Overlapping fingers		0010557
Profound global developmental delay		0012736
Progressive microcephaly	Progressively abnormally small cranium Progressively abnormally small skull [ more ]	0000253
Protruding tongue	Prominent tongue Tongue sticking out of mouth [ more ]	0010808
Respiratory insufficiency	Respiratory impairment	0002093
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw [ more ]	0000278
Short neck	Decreased length of neck	0000470
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short palpebral fissure	Short opening between the eyelids	0012745
Short stature	Decreased body height Small stature [ more ]	0004322
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Smooth philtrum		0000319
Splenomegaly	Increased spleen size	0001744
Thick vermilion border	Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ]	0012471
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445

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

Last updated: 10/1/2020

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

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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/

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).

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.
PubMed is a searchable database of medical literature and lists journal articles that discuss COG7-CDG (CDG-IIe). Click on the link to view a sample search on this topic.

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