National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

COG8-CDG (CDG-IIh)



Other Names:
Congenital disorder of glycosylation, type IIh ; CDG syndrome type IIh; CDG-IIh; Congenital disorder of glycosylation, type IIh ; CDG syndrome type IIh; CDG-IIh; CDG2H; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type 2h; Congenital disorder of glycosylation type IIh; CDG IIh; COG8-CDG See More
Categories:
This disease is grouped under:

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

Orpha Number: 95428

Definition
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.

Epidemiology
So far, only two cases have been described.

Etiology
The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2007

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
30%-79% of people have these symptoms
Ataxia 0001251
Chronic axonal neuropathy 0007267
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
0002376
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Food intolerance 0012537
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Intellectual disability
Mental-retardation
Mental retardation, nonspecific
Mental retardation
Mental deficiency
[ more ]
0001249
Poor head control 0002421
Poor speech 0002465
Protein-losing enteropathy 0002243
Seizure 0001250
Severe global developmental delay 0011344
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
5%-29% of people have these symptoms
Acute encephalopathy 0006846
Alternating esotropia
Alternating cross eyes
0001137
Atrophy/Degeneration affecting the brainstem 0007366
Cerebellar atrophy
Degeneration of cerebellum
0001272
Elevated hepatic transaminase
High liver enzymes
0002910
Hypoglycemia
Low blood sugar
0001943
Myoclonus 0001336
Progressive microcephaly
Progressively abnormally small cranium
Progressively abnormally small skull
[ more ]
0000253
Prolonged prothrombin time 0008151
Spontaneous hematomas 0007420
Ventriculomegaly 0002119
1%-4% of people have these symptoms
Abnormal brain lactate level by MRS 0025045
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ]
0001344
Bilateral coxa valga 0010665
Clinodactyly of the 3rd toe 0008115
Clinodactyly of the 4th toe 0011918
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
0005280
Elevated serum aspartate aminotransferase 0031956
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
Elevated serum transaminases during infections 0008150
Epicanthus
Eye folds
Prominent eye folds
[ more ]
0000286
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ]
0001531
Finger clinodactyly 0040019
Global developmental delay 0001263
Interface hepatitis 0032220
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Scoliosis 0002650
Status epilepticus
Repeated seizures without recovery between them
0002133
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
0001762
Type II transferrin isoform profile 0012301
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Encephalopathy 0001298
Muscular hypotonia
Low or weak muscle tone
0001252
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Last updated: 7/1/2020

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


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


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.

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