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congenital disorder of glycosylation Ij
Summary
- Synonym
-
- Congenital disorder of glycosylation 1j
- Definition
- A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080562
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100487779 | dpagt1 | dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) | Xenopus tropicalis (tropical clawed frog) | |
| 108696438 | dpagt1.L | dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) L homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H3H5 | UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002342 | Intellectual disability, moderate |
| HP:0002401 | Stroke-like episode |
| HP:0002521 | Hypsarrhythmia |
| HP:0002540 | Inability to walk |
| HP:0002650 | Scoliosis |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003186 | Inverted nipples |
| HP:0003429 | CNS hypomyelination |
| HP:0004855 | Reduced protein S activity |
| HP:0008947 | Infantile muscular hypotonia |
