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Disease Profile
COG6-CDG (CDG-IIL)
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
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ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
CDG2L; CDG IIl; CDGIIl;
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
1%-4% of people have these symptoms | ||
Abnormal bleeding |
Bleeding tendency
|
0001892 |
Abnormal cortical gyration | 0002536 | |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Cholestasis |
Slowed or blocked flow of bile from liver
|
0001396 |
Chronic diarrhea | 0002028 | |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Decreased specific anti-polysaccharide |
0002848 | |
Dry skin | 0000958 | |
Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ] |
0003155 |
Elevated gamma-glutamyltransferase level | 0030948 | |
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 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Esophageal varix |
Enlarged vein in esophagus
|
0002040 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hip dysplasia | 0001385 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hyperechogenic kidneys | 0004719 | |
Hyperkeratosis | 0000962 | |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] |
0000966 |
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Impaired T |
T-cell dysfunction
|
0005435 |
Inflammation of the large intestine | 0002037 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Optic atrophy | 0000648 | |
Pancytopenia |
Low blood cell count
|
0001876 |
Patent ductus arteriosus | 0001643 | |
Peau d'orange | 0025533 | |
Postaxial |
0100259 | |
Proximal tubulopathy | 0000114 | |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
0001250 | ||
Splenomegaly |
Increased spleen size
|
0001744 |
Low platelet count
|
0001873 | |
Type II transferrin isoform profile | 0012301 | |
Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ] |
0000122 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Ventriculomegaly | 0002119 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Symptoms present at birth
|
0003577 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
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
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CDG CARE
PO Box 38832
Colorado Springs, CO 80937
Toll-free: (866) 295-7910
E-mail: [email protected]
Website: https://cdgcare.com/
Social Networking Websites
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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).
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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss COG6-CDG (CDG-IIL). Click on the link to view a sample search on this topic.