COG5-CDG
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CDG2I Carbohydrate deficient glycoprotein syndrome type IIi CDGIIi Congenital disorder of glycosylation type IIi CDG IIi CDG-IIi CDG syndrome type IIi |
| Number of Symptoms | 7 |
| OrphanetNr: | 263487 |
| OMIM Id: |
613612
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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: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
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:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002078) | Truncal ataxia | 41 / 7739 | ||||
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(HPO:0003642) | Type I transferrin isoform profile | 16 / 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:0001272) | Cerebellar atrophy | 197 / 7739 | ||||
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(HPO:0007366) | Atrophy/Degeneration affecting the brainstem | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Paesold-Burda et al. (2009) described a 14-year-old Iraqi girl, born to remotely consanguineous parents, who at age 8 years demonstrated moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. Brain MRI revealed pronounced atrophy ... |
| Molecular genetics OMIM | In an Iraqi girl with a congenital disorder of glycosylation, Paesold-Burda et al. (2009) identified a homozygous intronic substitution (606821.0001) leading to exon skipping and severely reduced expression of the COG5 protein. |