Details of Disease

General Information of Disease (ID: DIS3IWZ7)

• Disease Name: Andersen-Tawil syndrome
• Synonyms: cardiodysrhythmic potassium-sensitive periodic paralysis; periodic paralysis, Potassium-sensitive cardiodysrhythmic type; Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features; ATS; long QT syndrome type 7; Andersen syndrome; Potassium-sensitive cardiodysrhythmic type; long QT syndrome 7; LQT7; Andersen-Tawil syndrome; Andersen cardiodysrhythmic periodic paralysis
• Definition: Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.
• Disease Hierarchy:
  DISLG2RO: Hereditary neuromuscular disease
  DISRNNCY: Familial long QT syndrome
  DISD9YAA: Familial periodic paralysis
  DISI6CLK: Muscular channelopathy
  DIS3IWZ7: Andersen-Tawil syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008222
  MESH ID: D050030
  UMLS CUI: C1563715
  OMIM ID: 170390
  MedGen ID: 327586
  Orphanet ID: 37553
  SNOMED CT ID: 422348008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN5A	TTZOVE0	Limited	Genetic Variation	[1]
KCNJ5	TTEO25X	Supportive	Autosomal dominant	[2]
KCNJ5	TTEO25X	moderate	Genetic Variation	[3]
CACNA1S	TT94HRF	Strong	Genetic Variation	[4]
CLCN1	TTUYAF3	Strong	Genetic Variation	[5]
KCNH2	TTQ6VDM	Strong	Genetic Variation	[1]
KCNJ2	TTH7UO3	Definitive	Autosomal dominant	[6]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNE1	OTZNQUW9	Limited	Biomarker	[7]
KCNE2	OTUO214Y	Limited	Biomarker	[7]
RYR2	OT0PF19E	Limited	Genetic Variation	[7]
KCNJ5	OTA2MBIE	Supportive	Autosomal dominant	[2]
ANK2	OTWB4R1Y	Strong	Biomarker	[7]
COL4A3	OT6SB8X5	Strong	Biomarker	[8]
COL4A4	OT9G0MCT	Strong	Biomarker	[8]
KCNJ12	OTYN1E1R	Strong	Biomarker	[9]
KCNJ2	OT2OQEZS	Definitive	Autosomal dominant	[6]

References

• [1] Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family.Ann Noninvasive Electrocardiol. 2016 Mar;21(2):189-95. doi: 10.1111/anec.12283. Epub 2015 Jun 24.
• [2] A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. Neurology. 2014 Mar 25;82(12):1058-64. doi: 10.1212/WNL.0000000000000239. Epub 2014 Feb 26.
• [3] Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.J Cardiol. 2017 Nov;70(5):504-510. doi: 10.1016/j.jjcc.2017.01.009. Epub 2017 Mar 21.
• [4] Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands.Neuromuscul Disord. 2018 May;28(5):402-407. doi: 10.1016/j.nmd.2018.03.006. Epub 2018 Mar 9.
• [5] Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.Curr Opin Neurol. 2014 Oct;27(5):583-90. doi: 10.1097/WCO.0000000000000127.
• [6] Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 Aug;110(3):381-8. doi: 10.1172/JCI15183.
• [7] Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.Heart Rhythm. 2006 Jul;3(7):800-5. doi: 10.1016/j.hrthm.2006.03.025. Epub 2006 Mar 28.
• [8] Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.Pediatr Nephrol. 2016 Jun;31(6):941-55. doi: 10.1007/s00467-015-3302-4. Epub 2016 Jan 25.
• [9] Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome.Proc Natl Acad Sci U S A. 2002 May 28;99(11):7774-9. doi: 10.1073/pnas.102609499.