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Disease Profile
COG5-CDG (CDG-IIi)
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.
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
Childhood
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 IIi; COG5-CDG (CDG-Iii). ; CDG syndrome type IIi;
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.
Orpha Number: 263487
Definition
COG5-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia , and mild hypotonia .
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 | ||
| Delayed speech and language development |
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
[ more ] |
0000750 |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| Motor delay | 0001270 | |
| 30%-79% of people have these symptoms | ||
|
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| 5%-29% of people have these symptoms | ||
| Abnormal isoelectric focusing of serum transferrin | 0003160 | |
| Abnormality of the frontal hairline |
Abnormality of hairline at front of head
|
0000599 |
| Atrophy/Degeneration affecting the brainstem | 0007366 | |
| Autistic behavior | 0000729 | |
| Brisk reflexes | 0001348 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
| Cerebral visual impairment | 0100704 | |
| Cerebral white matter atrophy | 0012762 | |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
| Delayed myelination | 0012448 | |
| Diffuse cerebral atrophy | 0002506 | |
| Dilation of lateral ventricles | 0006956 | |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Finger clinodactyly | 0040019 | |
| Gastrostomy tube feeding in infancy | 0011471 | |
| Genu valgum |
Knock knees
|
0002857 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
|
Enlarged liver and spleen
|
0001433 | |
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 |
| Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
| Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
| Neurogenic bladder |
Lack of bladder control due to nervous system injury
|
0000011 |
| Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
| Premature skin wrinkling | 0100678 | |
| Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
| 0001250 | ||
| Sensorineural hearing impairment | 0000407 | |
| Short neck |
Decreased length of neck
|
0000470 |
|
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
| Truncal |
Instability or lack of coordination of central trunk muscles
|
0002078 |
| Urinary incontinence |
Loss of bladder control
|
0000020 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
| 1%-4% of people have these symptoms | ||
| Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Type II transferrin isoform profile | 0012301 | |
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.