WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

(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

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/02/08 11:29:56」(JST)

wiki en

Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall syndrome) is a rare autosomal recessive,^[1] congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.^[2] Hearing loss and eye abnormalities (pigmentary retinopathy) are other common features, but problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies. The underlying disorder is a defect in a DNA repair mechanism.^[3]

It is named after English physician Edward Alfred Cockayne (1880–1956) and English dermatologist Frederick Parkes Weber (1863–1962). Neill-Dingwall syndrome was named after Mary M. Dingwall and Catherine A. Neill.^[4]

Forms of Cockayne syndrome (CS)

CS Type I, the classic form, is characterized by normal fetal growth with the onset of abnormalities in the first two years of life. Impairment of vision, hearing, and the central and peripheral nervous systems progressively degenerate until death in the first or second decade of life.
CS Type II, otherwise known as connatal CS, involves very little neurological development after birth. Death usually occurs by age seven. This specific type has also been designated as cerebro-oculo-facio-skeletal (COFS) syndrome.^[5]^[6] COFS syndrome can be further subdivided into several conditions (COFS types 1, 2, 3 (associated with xeroderma pigmentosum) and 4).^[7]
CS Type III, characterized by late onset, is rare and milder than Types I and II.
Xeroderma pigmentosum-Cockayne syndrome (XP-CS) occurs when an individual also suffers from xeroderma pigmentosum, another DNA repair disease. Some symptoms of each disease are expressed.

Genetics

Cockayne syndrome has an autosomal recessive pattern of inheritance.

Cockayne syndrome is classified genetically as follows:

Type	OMIM	Gene
A	216400	ERCC8
B	133540	ERCC6
C	216411	none known

Mutations in the ERCC6 and ERCC8 genes are the cause of Cockayne syndrome. The proteins made by these genes are involved in repairing damaged DNA via the transcription-coupled repair mechanism, particularly the DNA in active genes. If either the ERCC6 or the ERCC8 gene is altered, DNA damage is not repaired. As this damage accumulates, it can lead to malfunctioning cells or cell death.

Mutations in the ERCC6 gene mutation makes up ~70% of cases.

Physical appearance

Persons with this syndrome have smaller than normal head sizes, are of short stature, their eyes appear sunken, and they have an "aged" look.

External links

'Amy and Friends' — a friendly charity based in the UK supporting children with Cockayne Syndome
Share and Care Cockayne Syndrome Network
cockayne at NIH/UW GeneTests
This article incorporates some public domain text from The U.S. National Library of Medicine

References

^ Bertola, Dr; Cao, H; Albano, Lm; Oliveira, Dp; Kok, F; Marques-Dias, Mj; Kim, Ca; Hegele, Ra (2006). "Cockayne syndrome type A: novel mutations in eight typical patients". Journal of human genetics 51 (8): 701–5. doi:10.1007/s10038-006-0011-7. PMID 16865293.
^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 575. ISBN 0-7216-2921-0.
^ Hoeijmakers JH (October 2009). "DNA damage, aging, and cancer". N. Engl. J. Med. 361 (15): 1475–85. doi:10.1056/NEJMra0804615. PMID 19812404. http://www.nejm.org/doi/abs/10.1056/NEJMra0804615?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed.
^ Cockayne's syndrome at Who Named It?
^ http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1649&Disease_Disease_Search_diseaseGroup=Cerebro-oculo-facio-skeletal-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s) concerned=COFS-syndrome--Cerebrooculofacioskeletal-syndrome-&title=COFS-syndrome--Cerebrooculofacioskeletal-syndrome-&search=Disease_Search_Simple
^ Online 'Mendelian Inheritance in Man' (OMIM) Cerebrooculofacioskeletal Syndrome 1; COFS1 -214150
^ Online 'Mendelian Inheritance in Man' (OMIM) Cerebrooculofacioskeletal Syndrome 2; COFS2 -610756
Online 'Mendelian Inheritance in Man' (OMIM) Xeroderma Pigmentosum, Complementation Group G; XPG -278780
Online 'Mendelian Inheritance in Man' (OMIM) Cerebrooculofacioskeletal Syndrome 4; COFS4 -610758
^ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1317

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. Neuropathies associated with hereditary disorders
2. 光線過敏症（光線皮膚症）：臨床症状、診断、および治療 photosensitivity disorders photodermatoses clinical manifestations diagnosis and treatment
3. 遺伝性ニューロパチーの概要 overview of hereditary neuropathies
4. 遺伝性運動失調の概要 overview of the hereditary ataxias
5. 成人における小脳性運動失調の概要 overview of cerebellar ataxia in adults

English Journal

Pathways for repairing and tolerating the spectrum of oxidative DNA lesions.

Berquist BR, Wilson DM 3rd.SourceDepartment of Molecular and Cellular Medicine, College of Medicine, Texas A&M Health Science Center, 455 Reynolds Medical Building, College Station, TX 77843, United States.
Cancer letters.Cancer Lett.2012 Dec 31;327(1-2):61-72. doi: 10.1016/j.canlet.2012.02.001. Epub 2012 Feb 19.
Reactive oxygen species (ROS) arise from both endogenous and exogenous sources. These reactive molecules possess the ability to damage both the DNA nucleobases and the sugar phosphate backbone, leading to a wide spectrum of lesions, including non-bulky (8-oxoguanine and formamidopyrimidine) and bulk
PMID 22353689

Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models.

van de Ven M, Andressoo JO, van der Horst GT, Hoeijmakers JH, Mitchell JR.SourceMedical Genetics Center, Department of Cell Biology and Genetics, Center of Biomedical Genetics, P.O. Box 1738, Erasmus MC, 3000DR Rotterdam, The Netherlands. Electronic address: m.vd.ven@nki.nl.
DNA repair.DNA Repair (Amst).2012 Nov 1;11(11):874-83. doi: 10.1016/j.dnarep.2012.08.003. Epub 2012 Oct 7.
XPD is a helicase subunit of transcription factor IIH, an eleven-protein complex involved in a wide range of cellular activities including transcription and nucleotide excision DNA repair (NER). Mutations in NER genes including XPD can lead to a variety of overlapping syndromes with three general ca
PMID 23046824

Japanese Journal

Cockayne症候群における臨床的腎機能評価

脳と発達 46(4), 311-314, 2014
NAID 130004728669

Cockayne 症候群I型における合併症出現時期と全身管理

日本小児科学会雑誌 117(4), 760-765, 2013-04-01
NAID 10031163642

PARP and CSB modulate the processing of transcription-mediated DNA strand breaks

Genes & genetic systems 87(4), 265-272, 2012-08-25
NAID 10031126619

「網膜色素変性症」

Cockayne syndrome
	Classification and external resources
ICD-10	Q87.1 (ILDS Q87.110)
ICD-9	759.8
OMIM	216400 133540 216411
DiseasesDB	2907
eMedicine	ped/424
MeSH	D003057

　　[★]

英: pigmentary degeneration of the retina
ラ: degeneratio pigmentosa retinae, retinitis pigmentosa
関: 網膜色素変性、色素性網膜症、色素性網膜炎、桿体錐体ジストロフィー、色素上皮網膜変性、夜盲症、難病

[show details]

網膜色素変性症 : 約 222,000 件
網膜色素変性 : 約 235,000 件

概念

特定疾患治療研究事業の対象疾患である難病である。

遺伝形式

常染色体劣性遺伝　＞　常染色体優性遺伝　＞　X連鎖劣性遺伝

症状

症状は通常両眼性である。進行は緩徐に進行する。

夜盲
視野狭窄：輪状暗点(初期)、求心性視野狭窄(末期)
視力低下：周辺視力低下、最終的には失明、。

検査

眼底検査：網膜動脈狭細化、蝋状の視神経乳頭萎縮、骨小体様色素沈着(必ずしも見られない)
傾向眼底検査
暗順応検査
網膜電図：(初期から見られる)振幅低下・消失
視野検査：(初期)輪状暗点、求心性視野狭窄

認定基準

参考1

1 自覚症状

1) 夜盲
2) 視野狭窄
3) 視力低下

2 臨床検査所見

1) 眼底所見

網膜血管狭小
粗糙胡麻塩状網膜(ごま塩眼底？？)
骨小体様色素沈着
白点状

2) 網膜電図の振幅低下又は消失
3) 蛍光眼底造影所見で網膜色素上皮萎縮による過蛍光

合併症

嚢胞様黄斑浮腫、白内障、緑内障
難聴を伴う物が少なからずある。(参考2)

網膜色素変性を伴う疾患

網膜色素変性の類変疾患(網脈絡膜変性疾患)

→網脈絡膜ジストロフィー

参考

1. 網膜色素変性症 - 難病情報センター

http://www.nanbyou.or.jp/entry/337

2. 難聴＋網膜色素変性

http://homepage1.nifty.com/jibiaka50/nantyoumoumaku.htm

3. [charged] Retinitis pigmentosa: Clinical presentation and diagnosis - uptodate [1]

国試

101H039

「コケイン症候群」

　　[★]

英: Cockayne syndrome Cockayne's syndrome CS
同: ニール・ディグワール症候群ニール-ディングウォール症候群 Neill-Dingwall syndrome、コケーン症候群, Cockayne症候群、progeria-like syndrome

概念

紫外線に対する超感受性の常染色体劣性遺伝疾患

遺伝

常染色体劣性遺伝

症候

PED.1481

体格：低身長、脂肪組織欠損(出典不明)
精神：知能障害
顔貌：老人様顔貌、小頭症
皮膚：乳児期後半からの日光過敏性皮膚炎
耳鼻：難聴
眼　：白内障、視神経萎縮、網膜色素変性
神経：不随意運動、痙性四肢麻痺、末梢神経障害

参考

1. COCKAYNE SYNDROME, TYPE A; CSA - OMIM

http://omim.org/entry/216400

2. COCKAYNE SYNDROME, TYPE B; CSB - OMIM

http://omim.org/entry/133540

3. [charged] Hereditary neuropathies associated with generalized disorders - uptodate [2]
4. [charged] Photosensitive disorders (photodermatoses): Clinical manifestations, diagnosis, and treatment - uptodate [3]
5. 写真顔貌

http://www.i-am-pregnant.com/Birth/Birth-defects/Cockayne-Syndrome

http://cockayne-syndrome.net/English/US_What_is_CS.htm

http://www.latunisiemedicale.com/article-medicale-tunisie_1228_en

「CS」

　　[★]

「syndrome」

　　[★]

n.

症候群

[1] Bertola, Dr; Cao, H; Albano, Lm; Oliveira, Dp; Kok, F; Marques-Dias, Mj; Kim, Ca; Hegele, Ra (2006). "Cockayne syndrome type A: novel mutations in eight typical patients". Journal of human genetics 51 (8): 701–5. doi:10.1007/s10038-006-0011-7. PMID 16865293.

[2] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 575. ISBN 0-7216-2921-0.

[3] Hoeijmakers JH (October 2009). "DNA damage, aging, and cancer". N. Engl. J. Med. 361 (15): 1475–85. doi:10.1056/NEJMra0804615. PMID 19812404. http://www.nejm.org/doi/abs/10.1056/NEJMra0804615?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed.

[4] Cockayne's syndrome at Who Named It?

[5] ttp://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1649&Disease_Disease_Search_diseaseGroup=Cerebro-oculo-facio-skeletal-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease(s) concerned=COFS-syndrome--Cerebrooculofacioskeletal-syndrome-&title=COFS-syndrome--Cerebrooculofacioskeletal-syndrome-&search=Disease_Search_Simple

[6] Online 'Mendelian Inheritance in Man' (OMIM) Cerebrooculofacioskeletal Syndrome 1; COFS1 -214150

[7] Online 'Mendelian Inheritance in Man' (OMIM) Cerebrooculofacioskeletal Syndrome 2; COFS2 -610756
Online 'Mendelian Inheritance in Man' (OMIM) Xeroderma Pigmentosum, Complementation Group G; XPG -278780
Online 'Mendelian Inheritance in Man' (OMIM) Cerebrooculofacioskeletal Syndrome 4; COFS4 -610758

[8] ttp://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1317

リンク元	「網膜色素変性症」「コケイン症候群」「CS」
関連記事	「syndrome」

匿名

検索

案内

案内

Cockayne syndrome