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autosomal dominant Emery-Dreifuss muscular dystrophy 2
Summary
- Synonym
-
- EDMD2
- EMD2
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Emery-Dreifuss muscular dystrophy, autosomal dominant
- Hauptmann-Thannhauser muscular dystrophy
- autosomal dominant limb-girdle muscular dystrophy type 1B
- muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
- scapuloilioperoneal atrophy with cardiopathy
- Definition
- An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.
- Super Class
- Emery-Dreifuss muscular dystrophy autosomal dominant disease
External Links
- Disease Ontology
- DOID:0070247
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 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 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
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 |
