Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
muscular dystrophy-dystroglycanopathy type B15
Summary
- Synonym
-
- MDDGB15
- congenital muscular dystrophy DPM3-related
- Definition
- A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
- Disease Ontology
- DOID:0112376
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001263 | Global developmental delay |
| HP:0008443 | Neuropathic spinal arthropathy |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0010864 | Intellectual disability, severe |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0003712 | Skeletal muscle hypertrophy |
| HP:0000545 | Myopia |
| HP:0002650 | Scoliosis |
| HP:0000028 | Cryptorchidism |
| Gene ID | Gene Symbol | Description |
|---|---|---|
| 10585 | POMT1 | protein O-mannosyltransferase 1 |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B |
| 29954 | POMT2 | protein O-mannosyltransferase 2 |
| 79147 | FKRP | fukutin related protein |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
| 54344 | DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory |
