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amyotrophic lateral sclerosis type 1
Summary
- Synonym
-
- ALS1
- amyotrophic lateral sclerosis 1
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS.
- Super Class
- amyotrophic lateral sclerosis autosomal dominant disease autosomal recessive disease
External Links
- Disease Ontology
- DOID:0060193
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 13191 | Dctn1 | dynactin 1 | |
| 20618 | Sncg | synuclein, gamma | |
| 20655 | Sod1 | superoxide dismutase 1, soluble | |
| 20656 | Sod2 | superoxide dismutase 2, mitochondrial | |
| 22339 | Vegfa | vascular endothelial growth factor A | |
| 380684 | Nefh | neurofilament, heavy polypeptide |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004326 | Cachexia |
| HP:0100543 | Cognitive impairment |
| HP:0003484 | Upper limb muscle weakness |
| HP:0009067 | Progressive spinal muscular atrophy |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0007354 | Amyotrophic lateral sclerosis |
