B4GALT1-CDG
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CDG2D Congenital disorder of glycosylation type 2d CDG syndrome type IId CDGIId Congenital disorder of glycosylation type IId Carbohydrate deficient glycoprotein syndrome type IId Beta-1,4-galactosyltransferase deficiency CDG IId CDG-IId |
| Number of Symptoms | 16 |
| OrphanetNr: | 79332 |
| OMIM Id: |
607091
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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: | 1 case [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital disorder of glycosylation with developmental anomaly
-Rare developmental defect during embryogenesis -Rare genetic disease Congenital disorder of glycosylation with hepatic involvement -Rare genetic disease -Rare hepatic disease Congenital disorder of glycosylation with neurological involvement -Rare genetic disease -Rare neurologic disease Disorder of multiple glycosylation -Rare genetic disease Genetic syndrome with a Dandy-Walker malformation as major feature -Rare genetic disease Syndrome with a Dandy-Walker malformation as major feature -Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
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(HPO:0001305) | Dandy-Walker malformation | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0004482) | Relative macrocephaly | 44 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001928) | Abnormality of coagulation | 44 / 7739 | ||||
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(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0003198) | Myopathy | Very frequent [Orphanet] | 151 / 7739 | |||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(OMIM) | Abnormal serum transferrin pattern by isoelectric focusing (hyposialylation) | 1 / 7739 | ||||
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(HPO:0001355) | Megalencephaly | 39 / 7739 | ||||
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(OMIM) | Prolonged activated partial prothrombin time (aPPT) | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | Very frequent [Orphanet] | 278 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Congenital disorders of glycosylation (CDG), previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is ... |
| Clinical Description OMIM |
The clinical phenotype of all CDGs is dominated by severe psychomotor and mental retardation, as well as blood coagulation abnormalities presenting as thrombosis, bleeding, or stroke-like episodes (Jaeken et al., 1980). Peters et al. (2002) reported ... |
| Molecular genetics OMIM |
In the patient reported by Peters et al. (2002), Hansske et al. (2002) identified a single nucleotide insertion (137060.0001), predicted to result in a premature translation stop with loss of 50 amino acids at the C terminus. The ... |