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congenital disorder of glycosylation Ik
Summary
- Synonym
-
- congenital disorder of glycosylation 1k
- Definition
- A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080563
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 594994 | alg1 | ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase | Xenopus tropicalis (tropical clawed frog) | |
| 100037043 | alg1.L | ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase L homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9BT22 | Chitobiosyldiphosphodolichol beta-mannosyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003073 | Hypoalbuminemia |
| HP:0001263 | Global developmental delay |
| HP:0000478 | Abnormality of the eye |
| HP:0002028 | Chronic diarrhea |
| HP:0011344 | Severe global developmental delay |
| HP:0001376 | Limitation of joint mobility |
| HP:0000639 | Nystagmus |
| HP:0002243 | Protein-losing enteropathy |
| HP:0000100 | Nephrotic syndrome |
| HP:0001871 | Abnormality of blood and blood-forming tissues |
