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congenital disorder of glycosylation Ie
Summary
- Synonym
-
- congenital disorder of glycosylation 1e
- Definition
- A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080557
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 414689 | dpm1.L | dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit L homeolog | Xenopus laevis (African clawed frog) | |
| 496884 | dpm1 | dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit | Xenopus tropicalis (tropical clawed frog) | |
| 734516 | dpm1.S | dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit S homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15305 | Phosphomannomutase 2 | |
| O60762 | Dolichol-phosphate mannosyltransferase subunit 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000243 | Trigonocephaly |
| HP:0000293 | Full cheeks |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000347 | Micrognathia |
| HP:0000486 | Strabismus |
| HP:0000488 | Retinopathy |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000565 | Esotropia |
| HP:0000639 | Nystagmus |
