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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 |
|---|---|---|---|
| 5837 | PYGM | glycogen phosphorylase, muscle associated | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A | |
| 6440 | SFTPC | surfactant protein C | |
| 6476 | SI | sucrase-isomaltase | |
| 7108 | TM7SF2 | transmembrane 7 superfamily member 2 | |
| 7167 | TPI1 | triosephosphate isomerase 1 | |
| 8694 | DGAT1 | diacylglycerol O-acyltransferase 1 | |
| 8898 | MTMR2 | myotubularin related protein 2 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00443 | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha | |
| O43451 | Maltase-glucoamylase | |
| O60760 | Hematopoietic prostaglandin D synthase | |
| O75072 | Ribitol-5-phosphate transferase FKTN | |
| O95461 | Xylosyl- and glucuronyltransferase LARGE1 | |
| P00338 | L-lactate dehydrogenase A chain | |
| P00558 | Phosphoglycerate kinase 1 | |
| P04040 | Catalase | |
| P04156 | Major prion protein | |
| P07585 | Decorin |
