希少・遺伝性疾患検索システム : PubCaseFinder

Cenani-Lenz syndrome

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

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 (62.3%)	15194949	Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. Elliott AM, Reed MH, Evans JA, Cross HG, Chudley AE. Clin Dysmorphol. 2004;13(3):143-50. [ 抄録を表示 ] [ 抄録を非表示 ]
		長い睫毛橈尺骨癒合スクリュードライバー型切歯


		ヒト合指症子供（未就学）手男症候群表現型顔貌顔面骨
2 (57.3%)	18512233	Complex toe syndactyly with characteristic facial phenotype: a new syndrome? Sobreira NL, Cernach MC, Brunoni D, Perez AB. Am J Med Genet A. 2008;146A(13):1725-8. [ 抄録を表示 ] [ 抄録を非表示 ]
		合指趾症無眼瞼


		つま先ヒト劣性遺伝子合指症女子供手手指症候群表現型頭蓋顔面奇形
3 (55.8%)	28559208	Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flottmann R. Eur J Med Genet. 2017;60(8):421-425. [ 抄録を表示 ] [ 抄録を非表示 ]
		合指趾症前頭突出, 額突出唇裂
		LRP4
		c\|SUB\|G\|316+1\|A;RS#:780336679 rs780336679
		LDL受容体関連タンパク質 RNAスプライシングヒト合指症変異女子供男表現型
4 (51.4%)	30041615 (6057103)	Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly. Hettiaracchchi D, Bonnard C, Jayawardana SMA, Ng AYJ, Tohari S, Venkatesh B, Reversade B, Singaraja R, Dissanayake VHW. BMC Med Genet. 2018;19(1):125. [ 抄録を表示 ] [ 抄録を非表示 ]
		合指趾症橈尺骨癒合軸後性乏指趾症

		c\|SUB\|A\|1348\|G p\|SUB\|I\|450\|V
		つま先ヒトホモ接合体合指症変異女成人手指男若年成人
5 (39.7%)	23664847	Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation. Khan TN, Klar J, Ali Z, Khan F, Baig SM, Dahl N. Eur J Med Genet. 2013;56(7):371-4. [ 抄録を表示 ] [ 抄録を非表示 ]
		合指趾症橈尺骨癒合
		LRP4
		c\|SUB\|T\|2858\|C p\|SUB\|L\|953\|P
		80歳以上 LDL受容体関連タンパク質 Molecular Sequence Data アミノ酸配列ヒトホモ接合体ミスセンス変異中年先天性下肢変形合指症女子供成人男腎臓
5 (39.7%)	22802556	Cenani-Lenz syndrome-like limb anomaly with more severe involvement of left side. Ahmed S, Al-Aama JY. BMJ Case Rep. 2012;2012:. [ 抄録を表示 ] [ 抄録を非表示 ]
		橈尺骨癒合


		つま先ヒト催奇形物質合指症女妊娠幼児手指症候群胎児期曝露による遅延性影響表現型遺伝相談重症度インデックス鑑別診断顔面
7 (37.5%)	15039974	A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin. Malik S, Arshad M, Amin-Ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik KH. Am J Med Genet A. 2004;126A(1):61-7. [ 抄録を表示 ] [ 抄録を非表示 ]
		合指趾症中手骨癒合

		rs672601337
		Pakistan ヒトヒト2番染色体ヒト6番染色体先天性手変形先天性足変形劣性遺伝子合指症女成人生物学的マーカー男表現型
8 (33.1%)	25676610	A novel APC mutation defines a second locus for Cenani-Lenz syndrome. Patel N, Faqeih E, Anazi S, Alfawareh M, Wakil SM, Colak D, Alkuraya FS. J Med Genet. 2015;52(5):317-21. [ 抄録を表示 ] [ 抄録を非表示 ]
		合指趾症側弯
		CTNNB1 LRP4
		rs863225354 rs876657408
		エクソームハイスループット核酸シーケンシングヒト合指症変異大腸腺腫症タンパク質女染色体マッピング男表現型選択的スプライシング遺伝子制御ネットワーク遺伝子発現制御遺伝子発現解析遺伝子配列順遺伝子関連解析量的形質遺伝子座顔貌
9 (32.2%)	15138725	The duplicated longitudinal epiphysis or "kissing delta phalanx": evolution and variation in three different disorders. Elliott AM, Evans JA, Chudley AE, Reed MH. Skeletal Radiol. 2004;33(6):345-51. [ 抄録を表示 ] [ 抄録を非表示 ]
		ブラケット骨端
		MT1IP

		つま先ヒトルビンシュタイン・テイビ症候群合指症女子供（未就学）幼児手指男症候群
10 (31.0%)	24924585	Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome. Lindy AS, Bupp CP, McGee SJ, Steed E, Stevenson RE, Basehore MJ, Friez MJ. Am J Med Genet A. 2014;164A(9):2391-7. [ 抄録を表示 ] [ 抄録を非表示 ]
		合指趾症
		CTNNB1 LRP4 LRP5 LRP6

		LDL受容体関連タンパク質ヒト合指症同胞変異女死後変化男胎児致死的転帰

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徴候・症状リスト（Orphanetデータベースから取得）

合計: 41

HPO ID	徴候・症状	頻度
HP:0001163	中手骨の異常	Very frequent (99-80%)
HP:0001817	指爪欠損	Very frequent (99-80%)
HP:0002007	前頭突出, 額突出	Very frequent (99-80%)
HP:0005048	手根骨癒合症	Very frequent (99-80%)
HP:0006101	合指症	Very frequent (99-80%)
HP:0012165	乏指趾症	Very frequent (99-80%)
HP:0100240	関節骨癒合症	Very frequent (99-80%)
HP:0000316	両眼隔離	Frequent (79-30%)
HP:0000494	眼瞼裂斜下	Frequent (79-30%)
HP:0001770	合趾症	Frequent (79-30%)
HP:0001802	趾爪欠損	Frequent (79-30%)
HP:0002974	橈尺骨癒合	Frequent (79-30%)
HP:0002984	橈骨低形成	Frequent (79-30%)
HP:0003022	尺骨低形成	Frequent (79-30%)
HP:0009778	短い母指	Frequent (79-30%)
HP:0000272	平坦な頬	Occasional (29-5%)
HP:0000322	短い人中	Occasional (29-5%)
HP:0000365	難聴	Occasional (29-5%)
HP:0000411	耳介聳立	Occasional (29-5%)
HP:0000444	凸の鼻梁	Occasional (29-5%)
HP:0000508	眼瞼下垂	Occasional (29-5%)
HP:0000518	白内障	Occasional (29-5%)
HP:0000520	眼球突出	Occasional (29-5%)
HP:0000639	眼振	Occasional (29-5%)
HP:0000656	外反(眼瞼)	Occasional (29-5%)
HP:0000668	減歯症	Occasional (29-5%)
HP:0000682	歯エナメル質異常	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:0001601	喉頭軟化症	Occasional (29-5%)
HP:0001849	乏趾症	Occasional (29-5%)
HP:0002650	側弯	Occasional (29-5%)
HP:0002705	高狭口蓋	Occasional (29-5%)
HP:0002827	股関節脱臼	Occasional (29-5%)
HP:0002983	小肢症	Occasional (29-5%)
HP:0003042	肘脱臼	Occasional (29-5%)
HP:0003196	短い鼻	Occasional (29-5%)
HP:0003312	椎体骨形態異常	Occasional (29-5%)
HP:0004736	交叉癒合性異所性腎	Occasional (29-5%)
HP:0007477	異常な皮膚紋理	Occasional (29-5%)
HP:0008678	腎低形成/無形成	Occasional (29-5%)

徴候・症状リスト（症例報告から取得）

合計: 3

HPO ID	徴候・症状	症例報告数
HP:0001159	合指趾症	6
HP:0012165	乏指趾症	2
HP:0002974	橈尺骨癒合	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
APC	APC regulator of WNT signaling pathway	324
LRP4	LDL receptor related protein 4	4038