Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|
| 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 |
