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amyotrophic lateral sclerosis type 2
Summary
- Synonym
-
- ALS2
- amyotrophic lateral sclerosis 2
- amyotrophic lateral sclerosis 2, juvenile
- Definition
- An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2.
- Super Class
- amyotrophic lateral sclerosis
External Links
- Disease Ontology
- DOID:0060194
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 847 | CAT | catalase | |
| 2220 | FCN2 | ficolin 2 | |
| 2674 | GFRA1 | GDNF family receptor alpha 1 | |
| 3074 | HEXB | hexosaminidase subunit beta | |
| 3099 | HK2 | hexokinase 2 | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6SZW1 | NAD(+) hydrolase SARM1 | |
| Q8IUN9 | C-type lectin domain family 10 member A | |
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 | |
| Q92562 | Polyphosphoinositide phosphatase | |
| Q9BVK6 | Transmembrane emp24 domain-containing protein 9 | |
| Q9NQ88 | Fructose-2,6-bisphosphatase TIGAR |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003429 | CNS hypomyelination |
| HP:0003693 | Distal amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0003722 | Neck flexor weakness |
| HP:0004326 | Cachexia |
| HP:0005750 | Lower-limb joint contracture |
| HP:0006986 | Upper limb spasticity |
| HP:0007354 | Amyotrophic lateral sclerosis |
| HP:0011471 | Gastrostomy tube feeding in infancy |
| HP:0012048 | Oromandibular dystonia |
