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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:0002017 | Nausea and vomiting |
| HP:0002094 | Dyspnea |
| HP:0002145 | Frontotemporal dementia |
| HP:0002180 | Neurodegeneration |
| HP:0002360 | Sleep abnormality |
| HP:0002380 | Fasciculations |
| HP:0002463 | Language impairment |
| HP:0002795 | Abnormal respiratory system physiology |
| HP:0002878 | Respiratory failure |
| HP:0003202 | Skeletal muscle atrophy |
