Rare Ophthalmology News

Disease Profile

COG8-CDG (CDG-IIh)

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Congenital disorder of glycosylation, type IIh ; CDG syndrome type IIh; CDG-IIh;

Categories

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

Summary

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.

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
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

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

    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.