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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 |
|---|---|---|---|
| 1605 | DAG1 | dystroglycan 1 | |
| 2218 | FKTN | fukutin | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 10678 | B3GNT2 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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:0003577 | Congenital onset |
| HP:0006829 | Severe muscular hypotonia |
| HP:0006888 | Meningoencephalocele |
| HP:0007033 | Cerebellar dysplasia |
| HP:0007260 | Type II lissencephaly |
| HP:0007291 | Posterior fossa cyst |
| HP:0008551 | Microtia |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0010864 | Intellectual disability, severe |
| HP:0012793 | Kinked brainstem |
