ALG8-CDG
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CDG1H CDG-Ih Carbohydrate deficient glycoprotein syndrome Ih CDG syndrome type Ih CDGIh CDG Ih Congenital disorder of glycosylation Ih Glucosyltransferase 2 deficiency Congenital disorder of glycosylation 1h |
| Number of Symptoms | 4 |
| OrphanetNr: | 79325 |
| OMIM Id: |
608104
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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: | 8 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital disorder of glycosylation with hepatic involvement
-Rare genetic disease -Rare hepatic disease Congenital disorder of glycosylation with intestinal involvement -Rare gastroenterologic disease -Rare genetic disease Congenital disorder of glycosylation with nephropathy as a major feature -Rare genetic disease -Rare renal disease Disorder of protein N-glycosylation -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:0000124) | Renal tubular dysfunction | Very frequent [Orphanet] | 46 / 7739 | |||
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0001399) | Hepatic failure | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0001004) | Lymphedema | Very frequent [Orphanet] | 62 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
CDGs, previously called carbohydrate-deficient glycoprotein syndromes, grew from hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing of serum ... |
| Clinical Description OMIM |
Chantret et al. (2003) described a novel subtype of CDG I that they designated CDG Ih. The patient was a girl, the first child of unrelated healthy parents, who was referred at 4 months of age for edematoascitic ... |
| Molecular genetics OMIM |
Chantret et al. (2003) identified compound heterozygosity for a 1-bp deletion and a 1-bp insertion in the ALG8 gene (see 608103.0001) in the patient they reported with CDG Ih. Cells from the patient were successfully complemented with wildtype ... |