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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 |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 176 | ACAN | aggrecan | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 239 | ALOX12 | arachidonate 12-lipoxygenase, 12S type | |
| 250 | ALPP | alkaline phosphatase, placental | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1119 | CHKA | choline kinase alpha |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN | |
| O95461 | Xylosyl- and glucuronyltransferase LARGE1 | |
| P05187 | Alkaline phosphatase, placental type | |
| P06733 | Alpha-enolase | |
| P07585 | Decorin | |
| P07741 | Adenine phosphoribosyltransferase | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P10253 | Lysosomal alpha-glucosidase | |
| P11217 | Glycogen phosphorylase, muscle form | |
| P11226 | Mannose-binding protein C |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002098 | Respiratory distress |
| HP:0010794 | Impaired visuospatial constructive cognition |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0001638 | Cardiomyopathy |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0000252 | Microcephaly |
| HP:0003306 | Spinal rigidity |
| HP:0003700 | Generalized amyotrophy |
| HP:0002094 | Dyspnea |
| HP:0008981 | Calf muscle hypertrophy |
