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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
myotonic dystrophy type 1
Summary
- Synonym
-
- Dystrophia myotonica
- Steinert disease
- congenital myotonic dystrophy
- myotonic dystrophy of Steinert
- Definition
- A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.
- Super Class
- myotonic disease
External Links
- Disease Ontology
- DOID:11722
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6517 | SLC2A4 | solute carrier family 2 member 4 | |
| 7368 | UGT8 | UDP glycosyltransferase 8 | |
| 7903 | ST8SIA4 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | |
| 8776 | MTMR1 | myotubularin related protein 1 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 9993 | DGCR2 | DiGeorge syndrome critical region gene 2 | |
| 23236 | PLCB1 | phospholipase C beta 1 | |
| 26033 | ATRNL1 | attractin like 1 | |
| 51548 | SIRT6 | sirtuin 6 | |
| 159371 | SLC35G1 | solute carrier family 35 member G1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| A6NDG6 | Glycerol-3-phosphate phosphatase | |
| O43451 | Maltase-glucoamylase | |
| P04040 | Catalase | |
| P04156 | Major prion protein | |
| P05187 | Alkaline phosphatase, placental type | |
| P06858 | Lipoprotein lipase | |
| P12821 | Angiotensin-converting enzyme | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P14672 | Solute carrier family 2, facilitated glucose transporter member 4 | |
| P16109 | P-selectin |
