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muscular dystrophy-dystroglycanopathy type B1
Summary
- Synonym
-
- CMD due to dystroglycanopathy
- Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
- Definition
- A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4534 | MTM1 | myotubularin 1 | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 16795 | Large1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 68273 | Pomgnt1 | protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase | |
| 99011 | Pomt1 | protein-O-mannosyltransferase 1 | |
| 108902 | B4gat1 | beta-1,4-glucuronyltransferase 1 | |
| 243853 | Fkrp | fukutin related protein | |
| 246179 | Fktn | fukutin |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 84430 | Pomt1 | protein-O-mannosyltransferase 1 | |
| 293667 | B4gat1 | beta-1,4-glucuronyltransferase 1 | |
| 308390 | Fkrp | fukutin related protein | |
| 361368 | Large1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 362520 | Fktn | fukutin | |
| 362567 | Pomgnt1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 446213 | large1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 569769 | pomt1 | protein-O-mannosyltransferase 1 | |
| 571426 | fkrp | fukutin related protein | |
| 571876 | pomgnt1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 100006345 | fktn | fukutin | |
| 101669768 | b4gat1 | beta-1,4-glucuronyltransferase 1 |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 448433 | pomt1 | protein-O-mannosyltransferase 1 | Xenopus tropicalis (tropical clawed frog) | |
| 100124956 | fktn | fukutin | Xenopus tropicalis (tropical clawed frog) | |
| 100145309 | fkrp | fukutin related protein | Xenopus tropicalis (tropical clawed frog) | |
| 100158594 | pomgnt1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Xenopus tropicalis (tropical clawed frog) | |
| 100170600 | b4gat1 | beta-1,4-glucuronyltransferase 1 | Xenopus tropicalis (tropical clawed frog) | |
| 100498555 | large1 | LARGE xylosyl- and glucuronyltransferase 1 | Xenopus tropicalis (tropical clawed frog) | |
| 108699937 | pomt1.S | protein-O-mannosyltransferase 1 S homeolog | Xenopus laevis (African clawed frog) |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 173469 | T07D3.4 | Fukutin;Nucleotidyltransferase family protein | |
| 182795 | bgnt-1.4 | B3GNT1, Beta-1,3-N-acetylGucosamiNylTransferase 1, homolog;Glyco_trans_2-like domain-containing protein | |
| 187206 | lge-1 | Glycosyltransferase-like protein LARGE | |
| 188207 | T07A5.1 | Uncharacterized protein | |
| 189104 | W02B3.4 | Uncharacterized protein | |
| 3565692 | bgnt-1.5 | B3GNT1, Beta-1,3-N-acetylGucosamiNylTransferase 1, homolog |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002350 | Cerebellar cyst |
| HP:0002363 | Abnormal brainstem morphology |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0002465 | Poor speech |
| HP:0002505 | Loss of ambulation |
| HP:0002518 | Abnormal periventricular white matter morphology |
| HP:0002650 | Scoliosis |
| HP:0002827 | Hip dislocation |
| HP:0002828 | Multiple joint contractures |
| HP:0002878 | Respiratory failure |
| 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 |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
| 84197 | POMK | protein O-mannose kinase |
