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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 |
|---|---|---|---|
| 9663 | LPIN2 | lipin 2 | |
| 10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
| 10327 | AKR1A1 | aldo-keto reductase family 1 member A1 | |
| 10555 | AGPAT2 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 23175 | LPIN1 | lipin 1 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 |
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 |
