COG1-CDG
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME CDG2G CDG syndrome type IIg Carbohydrate deficient glycoprotein syndrome type IIg CDGIIg Congenital disorder of glycosylation type IIg CDG IIg CDG-IIg |
| Number of Symptoms | 14 |
| OrphanetNr: | 263508 |
| OMIM Id: |
611209
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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: |
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 deafness as a major feature -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease Congenital disorder of glycosylation-related bone disorder -Rare developmental defect during embryogenesis -Rare genetic disease Defect in conserved oligomeric Golgi complex -Rare genetic disease Dysostosis with predominant vertebral and costal involvement -Rare bone disease -Rare developmental defect during embryogenesis 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:0000319) | Smooth philtrum | 72 / 7739 | ||||
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(HPO:0000253) | Progressive microcephaly | 37 / 7739 | ||||
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(HPO:0000368) | Low-set, posteriorly rotated ears | 38 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0000938) | Osteopenia | 138 / 7739 | ||||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0003316) | Butterfly vertebrae | 6 / 7739 | ||||
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(HPO:0003422) | Vertebral segmentation defect | 95 / 7739 | ||||
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(HPO:0008905) | Rhizomelia | 85 / 7739 | ||||
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(HPO:0001531) | Failure to thrive in infancy | 26 / 7739 | ||||
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(HPO:0008897) | Postnatal growth retardation | 113 / 7739 | ||||
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(HPO:0003160) | Abnormal isoelectric focusing of serum transferrin | 10 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Foulquier et al. (2006) reported an infant girl who had failure to thrive, generalized hypotonia, growth retardation with rhizomelic short stature, and mild psychomotor retardation. At 21 months of age, she was noted to have progressive microcephaly and ... |
| Molecular genetics OMIM |
Foulquier et al. (2006) identified a homozygous mutation in the COG1 gene (606973.0001) in a girl with CDG type II. Zeevaert et al. (2009) described 2 patients with a cerebrocostomandibular-like syndrome, in whom they identified a ... |