KEGG   DISEASE: H00748Help
Entry
H00748                      Disease                                

Name
Andersen-Tawil syndrome (ATS)
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
Musculoskeletal disease; Nervous system disease; Inherited metabolic disease
BRITE hierarchy
Pathway
Cholinergic synapse
Gene
KCNJ2 [HSA:3759] [KO:K04996]
Drug
Acetazolamide [DR:D00218 D01196]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:20634695 (description, gene, drug)
  Authors
Raja Rayan DL, Hanna MG
  Title
Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
  Journal
Curr Opin Neurol 23:466-76 (2010)
Reference
PMID:19571750 (description, gene)
  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)

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