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  3. COG4-CDG (CDG-IIj)
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COG4-CDG (CDG-IIj)


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Other Names:
CDG syndrome type IIj; CDG-IIj; CDG2J; CDG syndrome type IIj; CDG-IIj; CDG2J; Carbohydrate deficient glycoprotein syndrome type IIj; Congenital disorder of glycosylation type IIj; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; COG4-CDG; Congenital disorder of glycosylation type 2j See More
Categories:
Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders; Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders; Nervous System Diseases See More
This disease is grouped under:
Congenital disorders of glycosylation

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 263501

Definition
COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2012

Symptoms Symptoms


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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.

Showing of 44 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal protein O-linked glycosylation 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
Ataxia 0001251
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Complex febrile seizure 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 hypotonia
Generalized low muscle tone in neonate
0008935
Global developmental delay 0001263
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
0001510
Hepatosplenomegaly
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
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Nystagmus
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
Thrombocytopenia
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 corpus callosum
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
Autosomal recessive inheritance 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
Showing of 44 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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


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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/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.
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You can help advance rare disease research!
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