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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 |
|---|---|---|---|
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 4023 | LPL | lipoprotein lipase | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4534 | MTM1 | myotubularin 1 | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 6401 | SELE | selectin E | |
| 6403 | SELP | selectin P | |
| 6476 | SI | sucrase-isomaltase |
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 |
