COG8-CDG
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CDG2H CDG syndrome type IIh Carbohydrate deficient glycoprotein syndrome type IIh CDGIIh Congenital disorder of glycosylation type 2h CDG syndrome type 2h Congenital disorder of glycosylation type IIh CDG IIh CDG-IIh |
| Number of Symptoms | 10 |
| OrphanetNr: | 95428 |
| OMIM Id: |
611182
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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: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital disorder of glycosylation with epilepsy as a major feature
-Rare genetic disease -Rare neurologic disease Defect in conserved oligomeric Golgi complex -Rare genetic disease Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0001137) | Alternating esotropia | 4 / 7739 | ||||
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(HPO:0002133) | Status epilepticus | 59 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001298) | Encephalopathy | 72 / 7739 | ||||
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(HPO:0008150) | Elevated serum transaminases during infections | 2 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | 253 / 7739 | ||||
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(HPO:0001272) | Cerebellar atrophy | 197 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Foulquier et al. (2007) described an 8 year-old Spanish female with a congenital disorder of glycosylation who was the product of a consanguineous relationship. Although the neonatal period and early infancy were normal, at age 6 months she ... |
| Molecular genetics OMIM |
The patient described by Foulquier et al. (2007) was homozygous for a nonsense mutation in the COG8 gene (606979.0001). The patient described by Kranz et al. (2007) was compound heterozygous for 2 mutations in COG8: a ... |