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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 |
|---|---|---|---|
| 1120 | CHKB | choline kinase beta | |
| 1497 | CTNS | cystinosin, lysosomal cystine transporter | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1634 | DCN | decorin | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1800 | DPEP1 | dipeptidase 1 | |
| 2023 | ENO1 | enolase 1 | |
| 2218 | FKTN | fukutin | |
| 2548 | GAA | alpha glucosidase | |
| 2710 | GK | glycerol kinase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12821 | Angiotensin-converting enzyme | |
| P13727 | Bone marrow proteoglycan | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P16070 | CD44 antigen | |
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase | |
| P16444 | Dipeptidase 1 | |
| P17931 | Galectin-3 | |
| P18054 | Polyunsaturated fatty acid lipoxygenase ALOX12 | |
| P22303 | Acetylcholinesterase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0002027 | Abdominal pain |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0001249 | Intellectual disability |
| HP:0003391 | Gowers sign |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0002515 | Waddling gait |
| HP:0000729 | Autistic behavior |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003701 | Proximal muscle weakness |
