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Disease Profile
COG4-CDG (CDG-IIj)
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.
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Age of onset
Infancy
ICD-10
E77.8
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)
CDG syndrome type IIj; CDG-IIj; CDG2J;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders;
Summary
Orpha Number: 263501
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal |
0012358 | |
30%-79% of people have these symptoms | ||
Abnormality of the coagulation cascade | 0003256 | |
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
0001251 | ||
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Complex febrile |
0011172 | |
Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ] |
0003155 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Frontotemporal cerebral atrophy | 0006892 | |
Generalized neonatal |
Generalized low muscle tone in neonate
|
0008935 |
Global |
0001263 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Enlarged liver and spleen
|
0001433 | |
Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] |
0003124 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Intermittent diarrhea | 0002254 | |
Irritability |
Irritable
|
0000737 |
Limb hypertonia |
Increased muscle tone of arm or leg
|
0002509 |
Decreased circumference of cranium
Abnormally small skull
Small head circumference
Reduced head circumference
Decreased size of skull
[ more ] |
0000252 | |
Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
Sloping forehead |
Inclined forehead
Receding forehead
[ more ] |
0000340 |
Thick hair |
Increased hair density
|
0100874 |
Low platelet count
|
0001873 | |
Type II transferrin isoform profile | 0012301 | |
5%-29% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Chronic diarrhea | 0002028 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Fatal liver failure in infancy | 0006583 | |
Hepatic failure |
Liver failure
|
0001399 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Neonatal sepsis | 0040187 | |
Recurrent infection of the gastrointestinal tract |
Recurrent gastrointestinal infections
|
0004798 |
Seizure | 0001250 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hypertonia | 0001276 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
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: [email protected]
Website: https://cdgcare.com/
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.