Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

患者の徴候・症状を入力

症例報告を絞り込む

合計: 42 （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 (41.7%)	22673385	[Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl]. Vibede LD, Jensen UB, Sorensen TH, Pedersen LM. Ugeskr Laeger. 2012;174(23):1614-5. [ 抄録を表示 ] [ 抄録を非表示 ]
		高口蓋大頭
		BMPR1A PTEN

		PTENホスファターゼヒト分子診断技術変異多発性過誤腫症候群大頭症女子供（未就学）幼児腸ポリープ症遺伝性腫瘍症候群
2 (39.0%)	31062505	Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A. Golas MM, Auber B, Ripperger T, Pabst B, Schmidt G, Morlot M, Diebold U, Steinemann D, Schlegelberger B, Morlot S. Am J Med Genet A. 2019;179(7):1383-1389. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭
		BMPR1A KLLN LYPD1 PTEN
		c\|DEL\|959\|CTTT
		PTENホスファターゼヒトヒト10番染色体モザイク現象変異多発性過誤腫症候群女染色体欠失男骨形成タンパク質受容体I型
2 (39.0%)	29444762	Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome. Ghusayni R, Sachdev M, Gallentine W, Mikati MA, McDonald MT. Epileptic Disord. 2018;20(1):30-34. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭

		c\|SUB\|T\|510\|G
		PTENホスファターゼヒト変異多発性過誤腫症候群子供片側巨脳症男
2 (39.0%)	29194042	A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty. Ozsu E, Sen A, Ceylaner S. J Pediatr Endocrinol Metab. 2018;31(1):95-99. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭


		PTENホスファターゼヒト低身長症変異子供思春期早発症男精巣疾患結石表現型顔貌骨軟骨炎
2 (39.0%)	29168369	Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome. Hzarcoglu-Gulsen H, Klc E, Dominguez-Garrido E, Aydemir Y, Utine GE, Saltk-Temizel N. Turk J Pediatr. 2017;59(1):80-83. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭
		PTEN

		PTENホスファターゼヒト変異多発性過誤腫症候群子供理学的検査男胃腸腫瘍
2 (39.0%)	28401059 (5385310)	Bannayan-Riley-Ruvalcaba Syndrome in a Patient with a PTEN Mutation Identified by Chromosomal Microarray Analysis: A Case Report. Lee SH, Ryoo E, Tchah H. Pediatr Gastroenterol Hepatol Nutr. 2017;20(1):65-70. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭
		PTEN


2 (39.0%)	27358095	Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome. Anusic S, Clemens RK, Meier TO, Amann-Vesti BR. BMJ Case Rep. 2016;2016:. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭
		PTEN

		PTENホスファターゼヒト下肢前腕多発性過誤腫症候群大頭症核磁気共鳴血管撮影男筋骨格痛若年成人超音波カラードプラ鑑別診断
2 (39.0%)	25549896	Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. Busa T, Milh M, Degardin N, Girard N, Sigaudy S, Longy M, Olshchwang S, Sobol H, Chabrol B, Philip N. Eur J Paediatr Neurol. 2015;19(2):188-92. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭
		LYPD1 PTEN
		rs1114167676 rs398123329 rs587782607
		PTENホスファターゼヒト変異多発性過誤腫症候群大頭症女子供子供（未就学）幼児生殖核男発達障害自閉症スペクトラム障害表現型頭蓋内動静脈奇形
2 (39.0%)	24474112 (3900354)	Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report. Gontijo GM, Pinto CA, Rogatto SR, Cunha IW, Aguiar S Jr, Alves CA. An Bras Dermatol. 2013;88(6):982-5. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭
		PTEN

		PTENホスファターゼヒト変異多発性過誤腫症候群幼児男病状悪化皮膚皮膚癌脂肪腫
2 (39.0%)	24379037 (3890226)	Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome. Peiretti V, Mussa A, Feyles F, Tuli G, Santanera A, Molinatto C, Ferrero GB, Corrias A. J Clin Res Pediatr Endocrinol. 2013;5(4):261-5. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭
		PTEN
		rs876661024
		PTENホスファターゼヒト多発性過誤腫症候群女子供子供（未就学）点変異甲状腺男

徴候・症状リスト（Orphanetデータベースから取得）

合計: 55

HPO ID	徴候・症状	頻度
HP:0000256	大頭	Very frequent (99-80%)
HP:0002250	大腸の異常	Very frequent (99-80%)
HP:0003764	母斑	Very frequent (99-80%)
HP:0004322	低身長	Very frequent (99-80%)
HP:0004390	過誤腫ポリープ	Very frequent (99-80%)
HP:0005306	毛細血管血管腫	Very frequent (99-80%)
HP:0007400	不規則な高色素	Very frequent (99-80%)
HP:0012032	脂肪腫	Very frequent (99-80%)
HP:0100013	乳房新生物	Very frequent (99-80%)
HP:0100026	動静脈奇形	Very frequent (99-80%)
HP:0100761	内臓血管腫症	Very frequent (99-80%)
HP:0200008	腸ポリープ症	Very frequent (99-80%)
HP:0000767	漏斗胸	Frequent (79-30%)
HP:0001482	皮下結節	Frequent (79-30%)
HP:0001933	皮下出血	Frequent (79-30%)
HP:0002650	側弯	Frequent (79-30%)
HP:0000098	高身長	Occasional (29-5%)
HP:0000189	狭い口蓋	Occasional (29-5%)
HP:0000268	長頭	Occasional (29-5%)
HP:0000343	長い人中	Occasional (29-5%)
HP:0000347	小顎	Occasional (29-5%)
HP:0000400	大耳	Occasional (29-5%)
HP:0000445	幅広い鼻	Occasional (29-5%)
HP:0000463	上向きの鼻孔	Occasional (29-5%)
HP:0000587	視神経の異常	Occasional (29-5%)
HP:0000872	橋本甲状腺炎	Occasional (29-5%)
HP:0000965	大理石皮膚	Occasional (29-5%)
HP:0001004	リンパ性浮腫	Occasional (29-5%)
HP:0001009	毛細血管拡張	Occasional (29-5%)
HP:0001249	知的障害	Occasional (29-5%)
HP:0001250	発作	Occasional (29-5%)
HP:0001252	筋緊張低下	Occasional (29-5%)
HP:0001324	筋虚弱	Occasional (29-5%)
HP:0001681	狭心症	Occasional (29-5%)
HP:0001724	大動脈拡張	Occasional (29-5%)
HP:0001943	低血糖	Occasional (29-5%)
HP:0002007	前頭突出, 額突出	Occasional (29-5%)
HP:0002167	神経学的発語障害	Occasional (29-5%)
HP:0002170	頭蓋内出血	Occasional (29-5%)
HP:0002194	粗大運動発達遅延	Occasional (29-5%)
HP:0002664	新生物	Occasional (29-5%)
HP:0002665	リンパ腫	Occasional (29-5%)
HP:0002750	骨格骨化遅延	Occasional (29-5%)
HP:0002858	髄膜腫	Occasional (29-5%)
HP:0002890	甲状腺癌	Occasional (29-5%)
HP:0003196	短い鼻	Occasional (29-5%)
HP:0003198	ミオパチー	Occasional (29-5%)
HP:0003202	筋萎縮	Occasional (29-5%)
HP:0004326	悪液質 (カヘキシー)	Occasional (29-5%)
HP:0005692	関節過伸展	Occasional (29-5%)
HP:0007565	多発性カフェオーレ斑	Occasional (29-5%)
HP:0009023	腹筋虚弱	Occasional (29-5%)
HP:0010784	子宮新生物	Occasional (29-5%)
HP:0011304	幅広い母指	Occasional (29-5%)
HP:0100641	副腎皮質新生物	Occasional (29-5%)

徴候・症状リスト（症例報告から取得）

合計: 18

HPO ID	徴候・症状	症例報告数
HP:0000256	大頭	12
HP:0012032	脂肪腫	4
HP:0000717	自閉症	3
HP:0003198	ミオパチー	3
HP:0010566	過誤腫	3
HP:0012733	斑	3
HP:0200008	腸ポリープ症	3
HP:0001028	血管腫	2
HP:0002027	腹痛	2
HP:0001480	色素斑	1
HP:0001548	過成長	1
HP:0002516	頭蓋内圧の増加	1
HP:0004390	過誤腫ポリープ	1
HP:0004947	動静脈瘻	1
HP:0005266	腸ポリープ	1
HP:0007461	血管腫症	1
HP:0031447	Penile freckling	1
HP:0100026	動静脈奇形	1

疾患原因遺伝子リスト（Orphanetデータベースから取得）

合計: 1

Gene Symbol	遺伝子名	Entrez Gene ID
PTEN	phosphatase and tensin homolog	5728