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congenital disorder of glycosylation Ii
Summary
- Synonym
-
- congenital disorder of glycosylation 1i
- Definition
- A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080561
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 9382 | COG1 | component of oligomeric golgi complex 1 | |
| 11253 | MAN1B1 | mannosidase alpha class 1B member 1 | |
| 25839 | COG4 | component of oligomeric golgi complex 4 | |
| 64116 | SLC39A8 | solute carrier family 39 member 8 | |
| 84342 | COG8 | component of oligomeric golgi complex 8 | |
| 85365 | ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8WTW3 | Conserved oligomeric Golgi complex subunit 1 | |
| Q96MW5 | Conserved oligomeric Golgi complex subunit 8 | |
| Q9C0K1 | Metal cation symporter ZIP8 | |
| Q9UKM7 | Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002521 | Hypsarrhythmia |
| HP:0000707 | Abnormality of the nervous system |
| HP:0012751 | Abnormal basal ganglia MRI signal intensity |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0011344 | Severe global developmental delay |
| HP:0001928 | Abnormality of coagulation |
| HP:0000286 | Epicanthus |
| HP:0006808 | Cerebral hypomyelination |
| HP:0001250 | Seizure |
| HP:0012469 | Infantile spasms |
