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congenital muscular dystrophy-dystroglycanopathy type A1
Summary
- Synonym
-
- MDDGA1
- Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111237
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 56052 | ALG1 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | |
| 79147 | FKRP | fukutin related protein | |
| 84197 | POMK | protein O-mannose kinase | |
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000238 | Hydrocephalus |
| HP:0000486 | Strabismus |
| HP:0000501 | Glaucoma |
| HP:0000505 | Visual impairment |
| HP:0000518 | Cataract |
| HP:0000545 | Myopia |
| HP:0000648 | Optic atrophy |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001276 | Hypertonia |
