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rippling muscle disease 2
Summary
- Synonym
-
- autosomal dominant limb-girdle muscular dystrophy type 1C
- Definition
- A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
- Super Class
- autosomal dominant disease muscle tissue disease
External Links
- Disease Ontology
- DOID:0060255
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 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 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
| 54344 | DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P17931 | Galectin-3 | |
| P22303 | Acetylcholinesterase | |
| P29218 | Inositol monophosphatase 1 | |
| P32019 | Type II inositol 1,4,5-trisphosphate 5-phosphatase | |
| P32189 | Glycerol kinase | |
| P34741 | Syndecan-2 | |
| P35573 | Glycogen debranching enzyme | |
| P48735 | Isocitrate dehydrogenase [NADP], mitochondrial | |
| P49327 | Fatty acid synthase | |
| Q14118 | Dystroglycan 1 |
