COG7-CDG
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CDG2E Congenital disorder of glycosylation type 2e CDG syndrome type IIe CDGIIe Congenital disorder of glycosylation type IIe CDG-IIe CDG IIe Carbohydrate deficient glycoprotein syndrome type IIe |
| Number of Symptoms | 3 |
| OrphanetNr: | 79333 |
| OMIM Id: |
608779
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| ICD-10: |
E77.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 9 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital disorder of glycosylation with cardiac malformation as a major feature
-Rare developmental defect during embryogenesis -Rare genetic disease Congenital disorder of glycosylation with epilepsy as a major feature -Rare genetic disease -Rare neurologic disease Congenital disorder of glycosylation with skin involvement -Rare genetic disease -Rare skin disease Defect in conserved oligomeric Golgi complex -Rare genetic disease |
Symptom Information:
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(HPO:0001638) | Cardiomyopathy | Very frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
CDG IIe is caused by a mutation that impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways. For a general discussion of CDGs, ... |
| Clinical Description OMIM |
In 2 sibs with manifestations consistent with a congenital disorder of glycosylation, Wu et al. (2004) confirmed abnormal glycosylation on IEF analysis of their serum transferrin. The patients had perinatal asphyxia and dysmorphia, including low-set dysplastic ears, micrognathia, ... |
| Molecular genetics OMIM |
In 2 sibs with a fatal form of CDG, Wu et al. (2004) found disruption of multiple glycosylation pathways similar to that seen in Chinese hamster ovary cell lines with mutations in genes encoding COG1 (606973) and COG2 ... |