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familial periodic paralysis
Summary
- Definition
- A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells.
- Super Class
- metal metabolism disorder
External Links
- Disease Ontology
- DOID:1029
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 34 | ACADM | acyl-CoA dehydrogenase medium chain | |
| 35 | ACADS | acyl-CoA dehydrogenase short chain | |
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 308 | ANXA5 | annexin A5 | |
| 847 | CAT | catalase | |
| 952 | CD38 | CD38 molecule | |
| 1272 | CNTN1 | contactin 1 | |
| 1298 | COL9A2 | collagen type IX alpha 2 chain |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96F25 | UDP-N-acetylglucosamine transferase subunit ALG14 | |
| Q9H3H5 | UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
