Townes-Brocks syndrome

A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

患者の徴候・症状を入力

症例報告を絞り込む

合計: 29 （症例報告）

（表示件数）

対応する徴候・症状遺伝子変異キーワード（MeSH）

順位（類似度）	PMID (PMCID)
20 (4.0%)	23894113 (5094807)	Endocrine abnormalities in Townes-Brocks syndrome. Lawrence C, Hong-McAtee I, Hall B, Hartsfield J, Rutherford A, Bonilla T, Bay C. Am J Med Genet A. 2013;161A(9):2266-73. [ 抄録を表示 ] [ 抄録を非表示 ]
		甲状腺機能低下症
		GH1
		c\|DEL\|3414_3415\|AT
		ヒト変異女子供（未就学）成長曲線男磁気共鳴画像法脳下垂体表現型遺伝子型遺伝子関連解析鎖肛顔貌
20 (4.0%)	20003547 (2806267)	Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. Bardakjian TM, Schneider AS, Ng D, Johnston JJ, Biesecker LG. BMC Med Genet. 2009;10:137. [ 抄録を表示 ] [ 抄録を非表示 ]
		尿道索
		SALL1

		DNAコピー数多型オリゴヌクレオチドアレイ配列解析ヒトヒト16番染色体外耳小眼球症新生児男疾患の遺伝的素因症候群表現型遺伝子欠失遺伝子関連解析鎖肛
20 (4.0%)	19737635	Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. van Bever Y, Gischler SJ, Hoeve HL, Smit LS, Nauta J, Dooijes D. Eur J Med Genet. 2009;52(6):426-9. [ 抄録を表示 ] [ 抄録を非表示 ]
		嚥下障害
		SALL1
		p\|SUB\|R\|276\|X;RS#:104894537
		ヒト先天性足変形嚥下障害女新生児無呼吸症候群
20 (4.0%)	19005989	The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). Barry JS, Reddy MA. Ophthalmic Genet. 2008;29(4):177-80. [ 抄録を表示 ] [ 抄録を非表示 ]
		白内障
		SALL1 SALL4
		c\|SUB\|C\|826\|T;RS#:104894537
		Znフィンガーデュアン眼球後退症候群ヒト先天性手変形先天性甲状腺機能低下症変異幼児男症候群眼瞼腫瘍鎖肛類皮嚢胞
20 (4.0%)	17351307	Townes-Brocks syndrome with hypothyroidism. Goswami V, Dubey NK. Indian Pediatr. 2007;44(2):140-2. [ 抄録を表示 ] [ 抄録を非表示 ]
		甲状腺機能低下症


		ヒト外耳女子供（未就学）甲状腺機能低下症症候群腎臓鎖肛
20 (4.0%)	11074491	Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements. Kaiser-Rogers KA, Rao KW, Michaelis RC, Lese CM, Powell CM. Am J Med Genet. 2000;95(1):28-35. [ 抄録を表示 ] [ 抄録を非表示 ]
		肥満


		ヒト女子供幼児感受性と特異性染色体検査染色体異常男症候群発達障害蛍光インサイツハイブリダイゼーション法鎖肛
20 (4.0%)	7696681	Auditory dysfunction in selected syndromes and patterns of malformations: review and case findings. Hall JW 3rd, Prentice CH, Smiley G, Werkhaven J. J Am Acad Audiol. 1995;6(1):80-92. [ 抄録を表示 ] [ 抄録を非表示 ]
		難聴


		オージオメトリーヒト女子供（未就学）幼児成人男症候群脳幹聴性誘発電位
20 (4.0%)	6741990	Phenotypic variability in Townes-Brocks syndrome. Monteiro de Pina-Neto J. Am J Med Genet. 1984;18(1):147-52. [ 抄録を表示 ] [ 抄録を非表示 ]
		直腸膣瘻


		ヒト女幼児心房中隔欠損症症候群直腸腟瘻聴覚消失表現型鎖肛
20 (4.0%)	3943255	Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association. Hersh JH, Jaworski M, Solinger RE, Weisskopf B, Donat J. Clin Pediatr (Phila). 1986;25(2):100-2. [ 抄録を表示 ] [ 抄録を非表示 ]
		尿道下裂


		ヒト先天性手変形子供尿道下裂男症候群鎖肛鑑別診断

徴候・症状リスト（Orphanetデータベースから取得）

合計: 66

HPO ID	徴候・症状	頻度
HP:0000143	直腸膣瘻	Very frequent (99-80%)
HP:0000384	耳介前皮膚肉柱	Very frequent (99-80%)
HP:0001177	軸前性多指症	Very frequent (99-80%)
HP:0001199	三指節母指	Very frequent (99-80%)
HP:0002023	鎖肛	Very frequent (99-80%)
HP:0004792	直腸会陰瘻	Very frequent (99-80%)
HP:0008572	外耳奇形	Very frequent (99-80%)
HP:0000028	停留精巣	Frequent (79-30%)
HP:0000083	腎不全	Frequent (79-30%)
HP:0000365	難聴	Frequent (79-30%)
HP:0000396	耳輪の過剰な巻き込み	Frequent (79-30%)
HP:0001482	皮下結節	Frequent (79-30%)
HP:0001545	前方位肛門	Frequent (79-30%)
HP:0001760	足の異常	Frequent (79-30%)
HP:0001763	扁平足	Frequent (79-30%)
HP:0001863	弯趾	Frequent (79-30%)
HP:0002019	便秘	Frequent (79-30%)
HP:0004209	第5指弯指	Frequent (79-30%)
HP:0008551	小耳	Frequent (79-30%)
HP:0000047	尿道下裂	Occasional (29-5%)
HP:0000048	二分陰嚢	Occasional (29-5%)
HP:0000076	膀胱尿管逆流	Occasional (29-5%)
HP:0000077	腎異常	Occasional (29-5%)
HP:0000086	異所性腎	Occasional (29-5%)
HP:0000089	腎低形成	Occasional (29-5%)
HP:0000130	子宮異常	Occasional (29-5%)
HP:0000142	膣異常	Occasional (29-5%)
HP:0000154	幅広い口	Occasional (29-5%)
HP:0000324	顔面非対称	Occasional (29-5%)
HP:0000486	斜視	Occasional (29-5%)
HP:0000504	視覚の異常	Occasional (29-5%)
HP:0000518	白内障	Occasional (29-5%)
HP:0000567	脈絡膜網膜コロボーマ	Occasional (29-5%)
HP:0000568	小眼球	Occasional (29-5%)
HP:0000581	眼瞼裂狭小	Occasional (29-5%)
HP:0000612	コロボーマ	Occasional (29-5%)
HP:0000772	肋骨の異常	Occasional (29-5%)
HP:0000821	甲状腺機能低下症	Occasional (29-5%)
HP:0000823	思春期遅発	Occasional (29-5%)
HP:0001140	眼球上デルモイド	Occasional (29-5%)
HP:0001249	知的障害	Occasional (29-5%)
HP:0001274	脳梁無発生	Occasional (29-5%)
HP:0001508	成長障害 (成長不全)	Occasional (29-5%)
HP:0001631	心房中隔欠損	Occasional (29-5%)
HP:0001636	Fallot 四徴症	Occasional (29-5%)
HP:0001641	肺動脈弁の異常	Occasional (29-5%)
HP:0001643	動脈管開存症	Occasional (29-5%)
HP:0001671	心中隔	Occasional (29-5%)
HP:0001770	合趾症	Occasional (29-5%)
HP:0002308	Arnold-Chiari 奇形	Occasional (29-5%)
HP:0002564	心および大血管奇形	Occasional (29-5%)
HP:0002607	遺糞症	Occasional (29-5%)
HP:0003468	脊椎の異常	Occasional (29-5%)
HP:0004322	低身長	Occasional (29-5%)
HP:0005562	多発性腎嚢胞	Occasional (29-5%)
HP:0006824	脳神経麻痺	Occasional (29-5%)
HP:0008736	陰茎低形成	Occasional (29-5%)
HP:0009465	指の尺側偏位	Occasional (29-5%)
HP:0009912	耳珠の異常	Occasional (29-5%)
HP:0009944	母指指骨の部分重複	Occasional (29-5%)
HP:0010059	幅広い母趾趾骨	Occasional (29-5%)
HP:0010331	第3趾無形成/低形成	Occasional (29-5%)
HP:0010481	尿道弁	Occasional (29-5%)
HP:0010760	指欠損	Occasional (29-5%)
HP:0011304	幅広い母指	Occasional (29-5%)
HP:0100559	下肢非対称	Occasional (29-5%)

徴候・症状リスト（症例報告から取得）

合計: 11

HPO ID	徴候・症状	症例報告数
HP:0000083	腎不全	1
HP:0000365	難聴	1
HP:0000568	小眼球	1
HP:0001545	前方位肛門	1
HP:0002015	嚥下障害	1
HP:0002104	無呼吸	1
HP:0005707	両側性三指節母指	1
HP:0006315	単一正中上顎切歯	1
HP:0008572	外耳奇形	1
HP:0030676	Satyr ear	1
HP:0100258	軸前性多指趾症	1

疾患原因遺伝子リスト（Orphanetデータベースから取得）

合計: 2

Gene Symbol	遺伝子名	Entrez Gene ID
SALL1	spalt like transcription factor 1	6299
DACT1	dishevelled binding antagonist of beta catenin 1	51339