Andersen-Tawil syndrome type 1
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:skeletal_muscle
heart face |
| gptkbp:alsoKnownAs |
ATS1
|
| gptkbp:category |
channelopathy
periodic paralysis disorder |
| gptkbp:characterizedBy |
cardiac arrhythmias
periodic paralysis distinctive physical features |
| gptkbp:firstDescribed |
gptkb:Ellen_Andersen
gptkb:Rabi_Tawil |
| https://www.w3.org/2000/01/rdf-schema#label |
Andersen-Tawil syndrome type 1
|
| gptkbp:ICD-10_code |
G72.3
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:KCNJ2_gene
|
| gptkbp:OMIM |
170390
|
| gptkbp:partOf |
gptkb:Andersen-Tawil_syndrome
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
muscle weakness
clinodactyly hypertelorism low-set ears ventricular arrhythmias |
| gptkbp:treatment |
gptkb:acetazolamide
antiarrhythmic drugs |
| gptkbp:bfsParent |
gptkb:KIR2.1
|
| gptkbp:bfsLayer |
7
|