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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:0002650 | Scoliosis |
| HP:0006118 | Shortening of all distal phalanges of the fingers |
| HP:0001252 | Hypotonia |
| HP:0008150 | Elevated serum transaminases during infections |
| HP:0003621 | Juvenile onset |
| HP:0001263 | Global developmental delay |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001284 | Areflexia |
| HP:0008936 | Axial hypotonia |
| HP:0001976 | Reduced antithrombin III activity |
