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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003593 | Infantile onset |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0003645 | Prolonged partial thromboplastin time |
| HP:0003676 | Progressive |
| HP:0003828 | Variable expressivity |
| HP:0004279 | Short palm |
| HP:0006466 | Ankle flexion contracture |
| HP:0009824 | Upper limb undergrowth |
| HP:0200055 | Small hand |
| HP:0011344 | Severe global developmental delay |
