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autosomal recessive limb-girdle muscular dystrophy type 2K
Summary
- Synonym
-
- LGMD2K
- MDDGC1
- limb-girdle muscular dystrophy-intellectual disability syndrome
- muscular dystrophy limb-girdle type 2K
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110297
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 120071 | LARGE2 | LARGE xylosyl- and glucuronyltransferase 2 | |
| 124872 | B4GALNT2 | beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P2X0 | Dolichol-phosphate mannosyltransferase subunit 3 | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y259 | Choline/ethanolamine kinase | |
| 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:0002650 | Scoliosis |
| HP:0001319 | Neonatal hypotonia |
| HP:0003551 | Difficulty climbing stairs |
| HP:0012735 | Cough |
| HP:0003198 | Myopathy |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0003560 | Muscular dystrophy |
| HP:0000750 | Delayed speech and language development |
| HP:0003388 | Easy fatigability |
| HP:0003733 | Thigh hypertrophy |
