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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 |
|---|---|---|---|
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 55750 | AGK | acylglycerol kinase | |
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 | |
| 64419 | MTMR14 | myotubularin related protein 14 | |
| 79147 | FKRP | fukutin related protein | |
| 81035 | COLEC12 | collectin subfamily member 12 | |
| 85365 | ALG2 | ALG2 alpha-1,3/1,6-mannosyltransferase | |
| 113189 | CHST14 | carbohydrate sulfotransferase 14 | |
| 114780 | PKD1L2 | polycystin 1 like 2 (gene/pseudogene) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q14055 | Collagen alpha-2(IX) chain | |
| Q14118 | Dystroglycan 1 | |
| Q5KU26 | Collectin-12 | |
| Q6YHK3 | CD109 antigen | |
| Q7Z442 | Polycystin-1-like protein 2 | |
| Q8IWL2 | Pulmonary surfactant-associated protein A1 | |
| Q8NCE2 | Myotubularin-related protein 14 | |
| Q8NCH0 | Carbohydrate sulfotransferase 14 | |
| Q8NCR0 | UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| Q96AD5 | Patatin-like phospholipase domain-containing protein 2 |
