Rare Rheumatology News

Disease Profile

COG4-CDG (CDG-IIj)

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

Infancy

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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)

CDG syndrome type IIj; CDG-IIj; CDG2J;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders;

Summary

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.

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 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
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
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

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.