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congenital disorder of glycosylation Ic
Summary
- Synonym
-
- congenital disorder of glycosylation 1c
- Definition
- A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080555
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 446684 | alg6.S | ALG6, alpha-1,3-glucosyltransferase S homeolog | Xenopus laevis (African clawed frog) | |
| 496948 | alg6 | ALG6, alpha-1,3-glucosyltransferase | Xenopus tropicalis (tropical clawed frog) | |
| 100049135 | alg6.L | ALG6, alpha-1,3-glucosyltransferase L homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y672 | Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001508 | Failure to thrive |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0000486 | Strabismus |
| HP:0002625 | Deep venous thrombosis |
| HP:0005543 | Reduced protein C activity |
| HP:0001251 | Ataxia |
| HP:0000316 | Hypertelorism |
| HP:0001999 | Abnormal facial shape |
