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amyotrophic lateral sclerosis type 6
Summary
- Synonym
-
- ALS6
- amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
- autosomal recessive amyotrophic lateral sclerosis 6
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16.
- Super Class
- amyotrophic lateral sclerosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15327 | Inositol polyphosphate 4-phosphatase type II | |
| P48740 | Mannan-binding lectin serine protease 1 | |
| Q14982 | Opioid-binding protein/cell adhesion molecule | |
| Q6SZW1 | NAD(+) hydrolase SARM1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000217 | Xerostomia |
| HP:0000708 | Atypical behavior |
| HP:0000712 | Emotional lability |
| HP:0000713 | Agitation |
| HP:0000716 | Depression |
| HP:0000739 | Anxiety |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001347 | Hyperreflexia |
| HP:0002015 | Dysphagia |
