WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
a Danish author remembered for his fairy stories (1805-1875) (同)Hans Christian Andersen

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
アンデルセン(Hans Christian Andedersen;1805‐75;デンマークの童話作家)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/04/12 19:19:52」(JST)

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Andersen–Tawil syndrome, also called Andersen syndrome and Long QT syndrome 7, is a form of long QT syndrome. It is a rare genetic disorder, and is inherited in an autosomal dominant pattern.

Presentation

Andersen–Tawil syndrome affects the heart, symptoms are a disruption in the rhythm of the heart's lower chambers (ventricular arrhythmia) in addition to the symptoms of long QT syndrome. There are also physical abnormalities associated with Andersen–Tawil syndrome, these typically affect the head, face, and limbs. These features often include an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.

Type 1 and type 2

Two types of Andersen–Tawil syndrome are distinguished by their genetic causes.

Type 1, which accounts for about 60 percent of all cases of the disorder, is caused by mutations in the KCNJ2 gene.^[1]^[2]^[3]

The remaining 40 percent of cases are designated as type 2; the cause of the condition in these cases is unknown.

The protein made by the KCNJ2 gene forms a channel that transports potassium ions into muscle cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of skeletal muscles which are used for movement and cardiac muscle. Mutations in the KCNJ2 gene alter the usual structure and function of potassium channels or prevent the channels from being inserted correctly into the cell membrane. Many mutations prevent a molecule called PIP2 from binding to the channels and effectively regulating their activity. These changes disrupt the flow of potassium ions in skeletal and cardiac muscle, leading to the periodic paralysis and irregular heart rhythm characteristic of Andersen–Tawil syndrome.

Researchers have not yet determined the role of the KCNJ2 gene in bone development, and it is not known how mutations in the gene lead to the developmental abnormalities often found in Andersen–Tawil syndrome.

Symptoms

Widely spaced eyes (hypertelorism)
Short stature
Scoliosis
Webbed toes or fingers
Unusual short fingers
Low set ears
Broad forehead
Small jaw
Protruding jaw
Broad nasal root

Clinical signs

Prolongation of QT interval
Cardiac arrhythmias
Weakness: attacks or permanent

Treatment

High dose of K+ has been used with different results.

Eponym

It is named for Ellen Andersen^[4] and Al-Rabi Tawil.^[5]^[6]

External links

GeneReviews/NCBI/NIH/UW entry on Andersen-Tawil syndrome
OMIM entries on Anderson-Tawil syndrome
Consortium for Clinical Investigation of Neurologic Channelopathies entry on Andersen-Tawil Syndrome (ATS)

References

^ Tristani-Firouzi M, Jensen JL, Donaldson MR, et al. (2002). "Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)". J. Clin. Invest. 110 (3): 381–8. doi:10.1172/JCI15183. PMC 151085. PMID 12163457.
^ Pegan S, Arrabit C, Slesinger PA, Choe S (2006). "Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1". Biochemistry 45 (28): 8599–606. doi:10.1021/bi060653d. PMID 16834334.
^ Kim, JB; Chung, KW (December 2009). "Novel de novo Mutation in the KCNJ2 Gene in a Patient With Andersen-Tawil Syndrome". Pediatric Neurology 41 (6): 464–466. doi:10.1016/j.pediatrneurol.2009.07.010. PMID 19931173.
^ Andersen ED, Krasilnikoff PA, Overvad H (1971). "Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?". Acta paediatrica Scandinavica 60 (5): 559–64. doi:10.1111/j.1651-2227.1971.tb06990.x. PMID 4106724.
^ Tawil R, Ptacek LJ, Pavlakis SG, et al. (1994). "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features". Ann. Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.
^ synd/3410 at Who Named It?

This article incorporates public domain text from The U.S. National Library of Medicine

UpToDate Contents

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1. 低カリウム性周期性四肢麻痺 hypokalemic periodic paralysis
2. 先天性QT延長症候群の臨床的特徴 clinical features of congenital long qt syndrome
3. 先天性および後天性ＱＴ延長症候群の遺伝学 genetics of congenital and acquired long qt syndrome
4. 高カリウム性周期性四肢麻痺 hyperkalemic periodic paralysis
5. 先天性ＱＴ延長症候群の診断 diagnosis of congenital long qt syndrome

English Journal

The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study).

Hedley PL, Havndrup O, Andersen PS, Aidt FH, Jensen M, Moolman-Smook JC, Bundgaard H, Christiansen M.AbstractABSTRACT:
Journal of negative results in biomedicine.J Negat Results Biomed.2011 Oct 3;10(1):12. [Epub ahead of print]
ABSTRACT:BACKGROUND: The gene family KCNE1-5, which encode modulating beta-subunits of several repolarising K+-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and Brugada syndrome. The minK peptide, encoded by KCNE1, is attached to the Z-
PMID 21967835

NCX is an important determinant for premature ventricular activity in a drug-induced model of Andersen-Tawil syndrome.

Radwanski PB, Poelzing S.SourceNora Eccles Harrison Cardiovascular Research and Training Institute, University of Utah, 95 South 2000 East, Salt Lake City, UT 84112-5000, USA.
Cardiovascular research.Cardiovasc Res.2011 Oct 1;92(1):57-66. Epub 2011 Jun 21.
AIMS: Andersen-Tawil syndrome (ATS1)-associated ventricular arrhythmias are initiated by premature ventricular activity (PVA) resulting from diastolic Ca(2+) (Ca(D)) accumulation. We hypothesized that relatively high Na(+)-Ca(2+) exchanger (NCX) expression coupled with slower Ca(2+) uptake may const
PMID 21697145

Japanese Journal

A novel neuropsychiatric phenotype of KCNJ2 mutation in one Taiwanese family with Andersen-Tawil syndrome

Chan Hoi-Fong,Chen Meng-Ling,Su Jen-Jen [他]
Journal of human genetics 55(3), 186-188, 2010-03
NAID 40017021927

PJ-046 Genotype-Phenotype Correlations of KCNJ2 Mutations in Japanese Patients with Andersen-Tawil Syndrome(Arrhythmia, diagnosis/pathophysiology/EPS-10, The 71st Annual Scientific Meeting of the Japanese Circulation Society)

Haruna Yoshisumi,Makiyama Takeru,Kobon Atsushi,Yoshida Hidetada,Doi Takahiro,Tsuji keiko,Oono Seiko,Nishio Yukiko,Akao Masaharu,Kita Toru,Horie Minoru
Circulation journal : official journal of the Japanese Circulation Society 71(Supplement_I), 481, 2007-03-01
NAID 110006397721

Related Pictures

★リンクテーブル★

リンク元	「アンデルセン症候群」
関連記事	「syndrome」

「アンデルセン症候群」

Andersen–Tawil syndrome
	Classification and external resources
ICD-10	I45.8
ICD-9	426.82, 794.31
OMIM	170390
DiseasesDB	700
MeSH	D050030
GeneReviews	Andersen-Tawil syndrome;

　　[★]

英: Andersen syndrome
同: Andersen症候群、アンダーソン症候群、アンダーセン症候群

[show details]

アンダーソン症候群 : 32 件
アンダーセン症候群 : 53 件
アンデルセン症候群 : 約 520 件

概念

Andersen syndromeはいくつかの疾患で用いられている

1. カリウムチャネル変異による先天性不整脈
2. 頭部形成異常、後側彎、高血圧を呈する常染色体劣性遺伝疾患
3. βリポ蛋白血症を呈する常染色体劣性遺伝疾患

1. カリウムチャネル変異による先天性不整脈

同: Andersen--Tawil syndrome, ATS
関: QT延長症候群

周期性四肢麻痺、軽度の風貌異常、心室性不整脈とQT延長/QU延長が認められることが特徴的な遺伝疾患である。(参考1)
ヒトの内向き整流カリウムチャネルKir 2.1の遺伝子であるKCNJ2の遺伝子異常が約60-70%の症例に認められる。(参考1)

参考

1.

http://repository.kulib.kyoto-u.ac.jp/dspace/bitstream/2433/135693/1/yigak03073.pdf

「syndrome」

　　[★]

n.

症候群

[1] Tristani-Firouzi M, Jensen JL, Donaldson MR, et al. (2002). "Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)". J. Clin. Invest. 110 (3): 381–8. doi:10.1172/JCI15183. PMC 151085. PMID 12163457.

[2] Pegan S, Arrabit C, Slesinger PA, Choe S (2006). "Andersen's syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1". Biochemistry 45 (28): 8599–606. doi:10.1021/bi060653d. PMID 16834334.

[3] Kim, JB; Chung, KW (December 2009). "Novel de novo Mutation in the KCNJ2 Gene in a Patient With Andersen-Tawil Syndrome". Pediatric Neurology 41 (6): 464–466. doi:10.1016/j.pediatrneurol.2009.07.010. PMID 19931173.

[4] Andersen ED, Krasilnikoff PA, Overvad H (1971). "Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?". Acta paediatrica Scandinavica 60 (5): 559–64. doi:10.1111/j.1651-2227.1971.tb06990.x. PMID 4106724.

[pmid8080508-5] Tawil R, Ptacek LJ, Pavlakis SG, et al. (1994). "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features". Ann. Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.

[6] synd/3410 at Who Named It?

匿名

検索

案内

案内

Andersen syndrome