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congenital muscular dystrophy
Summary
- Definition
- A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.
- Super Class
- muscular dystrophy physical disorder
External Links
- Disease Ontology
- DOID:0050557
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 5553 | PRG2 | proteoglycan 2, pro eosinophil major basic protein | |
| 6383 | SDC2 | syndecan 2 | |
| 6476 | SI | sucrase-isomaltase | |
| 8813 | DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | |
| 8818 | DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | |
| 8867 | SYNJ1 | synaptojanin 1 | |
| 8871 | SYNJ2 | synaptojanin 2 | |
| 8972 | MGAM | maltase-glucoamylase |
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 | |
| Q14118 | Dystroglycan 1 | |
| Q8N3Y3 | Xylosyl- and glucuronyltransferase LARGE2 |
