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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:0005543 | Reduced protein C activity |
| HP:0006380 | Knee flexion contracture |
| HP:0006879 | Pontocerebellar atrophy |
| HP:0007333 | Hypoplasia of the frontal lobes |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0009826 | Limb undergrowth |
| HP:0009830 | Peripheral neuropathy |
| HP:0010804 | Tented upper lip vermilion |
| HP:0010806 | U-Shaped upper lip vermilion |
| HP:0010818 | Generalized tonic seizure |
