| H00748 | |
| H number | H00748 |
| Name | Andersen-Tawil syndrome |
| Description | Andersen-Tawil syndrome (ATS) is a distinct type of periodic paralysis characterized in its full form by a triad of cardiac abnormalities, distinctive facial and skeletal features, and periodic paralysis. The distinctive physical features considered characteristic of ATS are: broad forehead, hypoplastic mandible, hypotelorism, low-set ears, digit clinodactyly, and 2-3 syndactyly of the toes. It is obvious that ATS has a high degree of phenotypic heterogeneity. ATS patients have loss-of-function mutations in the KCNJ2 gene, which encodes the voltage-gated inward rectifier potassium channel, Kir2.1. However, described KCNJ2 mutations only account for approximately 60% of diagnoses, suggesting genetic heterogeneity. |
| Category | Congenital malformation |
| Network | - |
| Gene | KCNJ2 [HSA:3759] [KO:K04996] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C74.1Y BC65.0 ICD-10: G72.3 MeSH: D050030 OMIM: 170390 |
| Reference | PMID:20634695 AUTHORS Raja Rayan DL, Hanna MG TITLE Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. JOURNAL Curr Opin Neurol 23:466-76 (2010) DOI:10.1097/WCO.0b013e32833cc97e PMID:19571750 AUTHORS Platt D, Griggs R TITLE Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. JOURNAL Curr Opin Neurol 22:524-31 (2009) DOI:10.1097/WCO.0b013e32832efa8f |