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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
X-linked distal spinal muscular atrophy 3
Summary
- Synonym
-
- ATP7A-related distal motor neuropathy
- DSMAX
- SMAX3
- X-linked dHMN3
- X-linked dSMA3
- X-linked distal hereditary motor neuropathy type 3
- X-linked recessive distal spinal muscular atrophy
- Definition
- A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1.
- Super Class
- X-linked recessive disease spinal muscular atrophy
External Links
- Disease Ontology
- DOID:0111196
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00558 | Phosphoglycerate kinase 1 |
