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congenital disorder of glycosylation Iq
Summary
- Synonym
-
- congenital disorder of glycosylation 1q
- Definition
- A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080568
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4351 | MPI | mannose phosphate isomerase | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 7841 | MOGS | mannosyl-oligosaccharide glucosidase | |
| 8813 | DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | |
| 9526 | MPDU1 | mannose-P-dolichol utilization defect 1 | |
| 10559 | SLC35A1 | solute carrier family 35 member A1 | |
| 22845 | DOLK | dolichol kinase | |
| 79644 | SRD5A3 | steroid 5 alpha-reductase 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15305 | Phosphomannomutase 2 | |
| O60762 | Dolichol-phosphate mannosyltransferase subunit 1 | |
| O75352 | Mannose-P-dolichol utilization defect 1 protein | |
| P34949 | Mannose-6-phosphate isomerase | |
| P78382 | CMP-sialic acid transporter | |
| Q13724 | Mannosyl-oligosaccharide glucosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0000677 | Oligodontia |
| HP:0002334 | Abnormal cerebellar vermis morphology |
| HP:0000572 | Visual loss |
| HP:0001928 | Abnormality of coagulation |
| HP:0005107 | Abnormal sacrum morphology |
| HP:0000998 | Hypertrichosis |
| HP:0000510 | Rod-cone dystrophy |
| HP:0001976 | Reduced antithrombin III activity |
