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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 |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
| 952 | CD38 | CD38 molecule | |
| 1120 | CHKB | choline kinase beta | |
| 1272 | CNTN1 | contactin 1 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 2218 | FKTN | fukutin | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 3098 | HK1 | hexokinase 1 |
| 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:0001250 | Seizure |
| HP:0001256 | Intellectual disability, mild |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001315 | Reduced tendon reflexes |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001347 | Hyperreflexia |
| 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 |
