Congenital rubella syndrome

Congenital rubella syndrome (CRS) is an infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects.

患者の徴候・症状を入力

症例報告を絞り込む

合計: 53 （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 (43.5%)	11213556	[Congenital infection: diagnostic serology of the mother not always definitive]. Verboon-Maciolek MA, Gerards LJ, Stoutenbeek P, van Loon AM. Ned Tijdschr Geneeskd. 2001;145(4):153-6. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭黄疸点状出血肝脾腫


		ウイルス抗体サイトメガロウイルス感染症ヒト先天性風疹症候群女妊娠妊娠合併感染症成人新生児男羊水胎児疾患超音波検査鑑別診断風疹
2 (38.0%)	21755831	Viral molecular characterization of the first congenital rubella syndrome case in Vietnam. Tran DN, Vu MP, Ha MT, Giang TP, Komase K, Mizuguchi M, Ushijima H. Clin Lab. 2011;57(5-6):397-401. [ 抄録を表示 ] [ 抄録を非表示 ]
		小頭肝脾腫血小板減少


		Molecular Sequence Data Preterm Infant Vietnam ウイルスDNA ヒト先天性心疾患女妊娠妊娠初期妊娠合併感染症小頭症成人新生児未熟児疾患男白内障系統発生学胎児発育遅延風疹
3 (28.5%)	8051318	Congenital rubella syndrome with rubella virus-associated generalized brownish macules, indurated erythemas, papules, and pigmentation. Seno A, Tada J, Matsuura H, Arata J, Isomura H, Kitamura T, Oda M, Katow S. J Dermatol. 1994;21(5):323-8. [ 抄録を表示 ] [ 抄録を非表示 ]
		肝脾腫紅斑


		PCR法ウイルスRNA ヒト先天性風疹症候群幼児男皮膚皮膚色素沈着
4 (26.7%)	29184005	An infant with congenital rubella syndrome in developing India. Singh A, Narula S, Kareem H, Devasia T. BMJ Case Rep. 2017;2017:. [ 抄録を表示 ] [ 抄録を非表示 ]
		白内障肝脾腫


		India Preterm Infant ヒト先天性風疹症候群女心房中隔欠損症新生児肝腫大脾腫
4 (26.7%)	16623349	[The first newborn with congenital rubella syndrome during the rubella epidemic in The Netherlands in 2004/'05]. de Mol AC, Vrancken S, Eggink AJ, Verduyn Lunel FM, Warris A. Ned Tijdschr Geneeskd. 2006;150(13):741-6. [ 抄録を表示 ] [ 抄録を非表示 ]
		無月経肝脾腫


		Netherlands ヒト先天性風疹症候群女妊娠妊娠合併感染症成人新生児男風疹
6 (22.2%)	20171592	Congenital rubella syndrome with autistic disorder. Hwang SJ, Chen YS. J Chin Med Assoc. 2010;73(2):104-7. [ 抄録を表示 ] [ 抄録を非表示 ]
		斜頚便秘高脂血症肺動脈狭窄


		ヒト先天性風疹症候群成人男統合失調症治療薬自閉症性障害
7 (20.8%)	18374856	[Chronic exanthema in a child with congenital rubella]. Lasek-Duriez A, Hubiche T, Aladjidi N, Lamireau T, Taieb A, Leaute-Labreze C. Ann Dermatol Venereol. 2008;135(3):222-4. [ 抄録を表示 ] [ 抄録を非表示 ]
		免疫不全紅斑


		ウイルスRNA ヒト先天性風疹症候群免疫不全症候群女妊娠妊娠合併症幼児発疹聴覚消失風疹
8 (20.5%)	26840886	Congenital rubella syndrome with death from interstitial pneumonia. Mizuno Y, Yokoi K, Suzuki S. Pediatr Int. 2016;58(6):490-493. [ 抄録を表示 ] [ 抄録を非表示 ]
		難聴血小板減少肺炎
		TWIST1


9 (16.0%)	28579716 (5440835)	Clinically Confirmed Congenital Rubella Syndrome: The Role of Echocardiography. Mekonnen D. Ethiop J Health Sci. 2017;27(2):197-202. [ 抄録を表示 ] [ 抄録を非表示 ]
		動脈管開存症栄養失調
		TWIST1

		ヒト先天性風疹症候群女幼児心エコー
10 (15.4%)	6684749	Persistent corneal edema in the congenital rubella syndrome. Deluise VP, Cobo LM, Chandler D. Ophthalmology. 1983;90(7):835-9. [ 抄録を表示 ] [ 抄録を非表示 ]
		角膜炎浮腫


		ヒト女妊娠幼児新生児浮腫症候群白内障胎児疾患角膜角膜混濁角膜疾患風疹

徴候・症状リスト（Orphanetデータベースから取得）

合計: 31

HPO ID	徴候・症状	頻度
HP:0000407	感音難聴	Very frequent (99-80%)
HP:0000518	白内障	Very frequent (99-80%)
HP:0001511	子宮内成長遅滞	Very frequent (99-80%)
HP:0002167	神経学的発語障害	Very frequent (99-80%)
HP:0000235	泉門と頭蓋骨縫合の異常	Frequent (79-30%)
HP:0000252	小頭	Frequent (79-30%)
HP:0000486	斜視	Frequent (79-30%)
HP:0000501	緑内障	Frequent (79-30%)
HP:0000505	視力障害	Frequent (79-30%)
HP:0000568	小眼球	Frequent (79-30%)
HP:0000639	眼振	Frequent (79-30%)
HP:0000988	皮膚発疹	Frequent (79-30%)
HP:0001249	知的障害	Frequent (79-30%)
HP:0001252	筋緊張低下	Frequent (79-30%)
HP:0001264	痙性両麻痺	Frequent (79-30%)
HP:0001629	心室中隔欠損	Frequent (79-30%)
HP:0001631	心房中隔欠損	Frequent (79-30%)
HP:0001643	動脈管開存症	Frequent (79-30%)
HP:0001744	脾腫	Frequent (79-30%)
HP:0001873	血小板減少	Frequent (79-30%)
HP:0001903	貧血	Frequent (79-30%)
HP:0002240	肝腫大	Frequent (79-30%)
HP:0004322	低身長	Frequent (79-30%)
HP:0004414	肺動脈の異常	Frequent (79-30%)
HP:0007703	網膜色素異常	Frequent (79-30%)
HP:0008053	虹彩無形成/低形成	Frequent (79-30%)
HP:0000944	骨幹端の異常	Occasional (29-5%)
HP:0000952	黄疸	Occasional (29-5%)
HP:0001250	発作	Occasional (29-5%)
HP:0007957	角膜混濁	Occasional (29-5%)
HP:0100651	I 型糖尿病	Occasional (29-5%)

徴候・症状リスト（症例報告から取得）