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)
1 (58.9%)	10631923	Two cases of Townes-Brocks syndrome. Doray B, Langer B, Stoll C. Genet Couns. 1999;10(4):359-67. [ 抄録を表示 ] [ 抄録を非表示 ]
		小顎後退三指節母指
		SALL1

		Znフィンガーヒトヒト16番染色体動物変異外耳女成人新生児男症候群知的障害聴覚消失血管浮腫鑑別診断
2 (57.8%)	8669439	Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. Johnson JP, Poskanzer LS, Sherman S. Am J Med Genet. 1996;61(2):134-9. [ 抄録を表示 ] [ 抄録を非表示 ]
		小顎


		ゴールデンハー症候群ヒト中年女子供幼児成人新生児男症候群類皮嚢胞
3 (49.0%)	22903933	A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. Al-Qattan MM, Al Abdulkareem I, Al Haidan Y, Al Balwi M. Am J Med Genet A. 2012;158A(10):2610-5. [ 抄録を表示 ] [ 抄録を非表示 ]
		三指節母指母指欠損
		SALL1 SALL4 SHH TBX5
		g\|SUB\|C\|106954\|T
		エンハンサーエレメントヒトファミリーヘッジホッグタンパク質先天性手変形多指症女点変異男
4 (35.4%)	19204018	Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. Faguer S, Pillet A, Chassaing N, Merhenberger M, Bernadet-Monrozies P, Guitard J, Chauveau D. Nephrol Dial Transplant. 2009;24(4):1341-5. [ 抄録を表示 ] [ 抄録を非表示 ]
		糸球体硬化症三指節母指
		SALL1

		ヒト慢性腎不全成人男症候群糸球体濾過率
4 (35.4%)	14671925	[Hearing loss in Townes-Brocks syndrome]. Rodriguez Asensio J, Rodriguez Rosell MV, Ramos Perez A. Acta Otorrinolaringol Esp. 2003;54(7):518-22. [ 抄録を表示 ] [ 抄録を非表示 ]
		三指節母指


		ヒト両側性難聴先天性手変形先天性足変形外耳女成人男症候群鎖肛
4 (35.4%)	10654325	Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. Salerno A, Kohlhase J, Kaplan BS. Pediatr Nephrol. 2000;14(1):25-8. [ 抄録を表示 ] [ 抄録を非表示 ]
		尿道下裂三指節母指
		SALL1

		DNA変異解析デオキシリボ核酸ヒト変異慢性腎不全男症候群鎖肛
4 (35.4%)	3441436	[A triphalangeal thumb associated with otological abnormalities. A new syndrome?]. Raia V, Strisciuglio P, Andolfi M, Paludetto R. Pediatr Med Chir. 1987;9(5):611-2. [ 抄録を表示 ] [ 抄録を非表示 ]
		三指節母指


		ヒト外耳女新生児症候群
4 (35.4%)	3180506	A new family with the Townes-Brocks syndrome. de Vries-Van der Weerd MA, Willems PJ, Mandema HM, ten Kate LP. Clin Genet. 1988;34(3):195-200. [ 抄録を表示 ] [ 抄録を非表示 ]
		合指趾症三指節母指


		ヒト外耳幼児男症候群鎖肛
4 (35.4%)	2279502	Townes-Brocks syndrome. Konig R, Schick U, Fuchs S. Eur J Pediatr. 1990;150(2):100-3. [ 抄録を表示 ] [ 抄録を非表示 ]
		三指節母指


		ヒト先天性脚変形外耳新生児男症候群鎖肛顔面
4 (35.4%)	1640945	[Townes-Brocks syndrome. Case report and review of the literature]. Kotzot D, Lorenz P, Bieber A, Grobe H. Monatsschr Kinderheilkd. 1992;140(6):343-5. [ 抄録を表示 ] [ 抄録を非表示 ]
		両側性三指節母指


		つま先ヒト両側性難聴先天性心疾患先天性手変形先天性足変形女小眼球症小頭症幼児手指新生児症候群

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