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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital muscular dystrophy-dystroglycanopathy A14
Summary
- Synonym
-
- MDDGA14
- Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111233
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001558 | Decreased fetal movement |
| HP:0003593 | Infantile onset |
| HP:0001249 | Intellectual disability |
| HP:0012110 | Hypoplasia of the pons |
| HP:0001263 | Global developmental delay |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0003551 | Difficulty climbing stairs |
| HP:0000252 | Microcephaly |
| HP:0003623 | Neonatal onset |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 10585 | POMT1 | protein O-mannosyltransferase 1 |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 |
| 2218 | FKTN | fukutin |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B |
| 29954 | POMT2 | protein O-mannosyltransferase 2 |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
| 79147 | FKRP | fukutin related protein |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
