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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital disorder of glycosylation Iw
Summary
- Synonym
-
- congenital disorder of glycosylation 1w
- Definition
- A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080572
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 399234 | stt3a.L | STT3A, subunit of the oligosaccharyltransferase complex (catalytic) L homeolog | Xenopus laevis (African clawed frog) | |
| 407861 | stt3a | STT3A, subunit of the oligosaccharyltransferase complex (catalytic) | Xenopus tropicalis (tropical clawed frog) | |
| 779022 | stt3a.S | STT3A, subunit of the oligosaccharyltransferase complex (catalytic) S homeolog | Xenopus laevis (African clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012345 | Abnormal glycosylation |
| HP:0001249 | Intellectual disability |
| HP:0001290 | Generalized hypotonia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003593 | Infantile onset |
| HP:0001252 | Hypotonia |
