Mucopolysaccharidosis type 1

Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome being the most severe, Scheie syndrome the mildest and Hurler-Scheie syndrome giving an intermediate phenotype.

患者の徴候・症状を入力

症例報告を絞り込む

合計: 46 （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 (39.0%)	23917744	Mucopolysaccharidosis type I and craniosynostosis. Ziyadeh J, Le Merrer M, Robert M, Arnaud E, Valayannopoulos V, Di Rocco F. Acta Neurochir (Wien). 2013;155(10):1973-6. [ 抄録を表示 ] [ 抄録を非表示 ]
		Scaphocephaly


		X線コンピュータ断層撮影ヒトムコ多糖症I型女子供（未就学）頭蓋縫合早期癒合症
1 (39.0%)	6413948	[Case of early hydrocephalus in mucopolysaccharidosis type 1]. Roussey M, Le Marec B, Faivre J, Gandon Y, Le Gall JY, Senecal J. Pediatrie. 1983;38(4):243-8. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭


		X線コンピュータ断層撮影ヒトムコ多糖症I型幼児水頭症男超音波検査
3 (38.4%)	156753	[Corneal changes in Scheie disease. (Mucopolysaccharidosis type I S) (author's transl)]. Tremblay M, Dube I, Gagne R. J Fr Ophtalmol. 1979;2(3):193-7. [ 抄録を表示 ] [ 抄録を非表示 ]
		連続眉毛瘢痕
		IDUA

		グリコサミノグリカンヒトムコ多糖症ムコ多糖症I型リソソーム成人男角膜角膜混濁角膜疾患角膜移植
4 (37.2%)	11265555	[Mitral stenosis secondary to Hurler's syndrome]. Kraiem S, Lahidheb D, Chehaibi N, Sfaxi A, Terras M, Ben Ameur Y, Slimane ML. Arch Mal Coeur Vaiss. 2001;94(2):153-6. [ 抄録を表示 ] [ 抄録を非表示 ]
		短い頸部


		ヒトムコ多糖症I型人工心臓弁置換術僧帽弁僧帽弁狭窄女心エコー血行動態
5 (35.3%)	24698225	[Hurler syndrome: early diagnosis and treatment]. Leroux S, Muller JB, Boutaric E, Busnel A, Lemouel F, Andro-Garcon M, Neven B, Valayannopoulos V, Vinceslas C. Arch Pediatr. 2014;21(5):501-6. [ 抄録を表示 ] [ 抄録を非表示 ]
		粗な顔貌臍ヘルニア
		IDUA
		p\|SUB\|W\|402\|X;RS#:121965019 rs121965019
		DNA変異解析 Early Medical Intervention Intensive Care Units, Neonatal ヒトヒト4番染色体ホモ接合体ムコ多糖症I型幼児新生児早期診断男病状悪化経過観察酵素補充療法
6 (32.7%)	27170613	Mucopolysaccharidosis type I disguised as rickets. Chakraborty PP, Biswas SN, Ray S, Dey SK. BMJ Case Rep. 2016;2016:. [ 抄録を表示 ] [ 抄録を非表示 ]
		脊椎骨端異形成外反膝


		Disease Management ヒトムコ多糖症I型家族性低リン血症性くる病男鑑別診断
7 (30.8%)	26588207	A Case of a Bilateral Cicatricial Upper Eyelid Entropion After Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type I. Dulz S, Wagenfeld L, Richard G, Schrum J, Muschol N, Keseru M. Ophthalmic Plast Reconstr Surg. 2017;33(3S Suppl 1):S75-S77. [ 抄録を表示 ] [ 抄録を非表示 ]
		睫毛乱生


		ヒトムコ多糖症I型子供男瘢痕眼瞼内反
8 (29.2%)	27326280 (4899867)	Mucopolysaccharidosis type I Hurler-Scheie syndrome affecting two sisters. Anand R, Bhatia D, Yadav DS. Radiol Case Rep. 2012;7(2):641. [ 抄録を表示 ] [ 抄録を非表示 ]
		脾腫腸骨翼フレア



8 (29.2%)	3114705	Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome). Schmidt H, Ullrich K, von Lengerke HJ, Kleine M, Bramswig J. Pediatr Radiol. 1987;17(5):409-14. [ 抄録を表示 ] [ 抄録を非表示 ]
		両眼隔離腸骨翼フレア
		IDUA

		Age Factors X線コンピュータ断層撮影ヒトムコ多糖症ムコ多糖症I型女成人男鑑別診断骨
10 (27.8%)	2518805	[Mucopolysaccharidosis type I, Hurler's syndrome]. Simic M, Arsenijevic S, Varagic M, Jovic B. Stomatol Glas Srb. 1989;36(4):367-74. [ 抄録を表示 ] [ 抄録を非表示 ]
		齲歯


		ヒトムコ多糖症I型女子供（未就学）歯牙異常

徴候・症状リスト（Orphanetデータベースから取得）

合計: 57

HPO ID	徴候・症状	頻度
HP:0000023	鼠径ヘルニア	Very frequent (99-80%)
HP:0000246	副鼻腔炎	Very frequent (99-80%)
HP:0000280	粗な顔貌	Very frequent (99-80%)
HP:0000389	慢性中耳炎	Very frequent (99-80%)
HP:0000944	骨幹端の異常	Very frequent (99-80%)
HP:0001171	裂手	Very frequent (99-80%)
HP:0001387	関節拘縮	Very frequent (99-80%)
HP:0001608	声の異常	Very frequent (99-80%)
HP:0001744	脾腫	Very frequent (99-80%)
HP:0002230	全身性多毛	Very frequent (99-80%)
HP:0002650	側弯	Very frequent (99-80%)
HP:0003312	椎体骨形態異常	Very frequent (99-80%)
HP:0004322	低身長	Very frequent (99-80%)
HP:0005930	骨端の異常	Very frequent (99-80%)
HP:0007957	角膜混濁	Very frequent (99-80%)
HP:0008155	ムコ多糖症	Very frequent (99-80%)
HP:0100790	ヘルニア	Very frequent (99-80%)
HP:0000179	分厚い下口唇唇紅部	Frequent (79-30%)
HP:0000212	歯肉過成長	Frequent (79-30%)
HP:0000232	下口唇唇紅部外反	Frequent (79-30%)
HP:0000256	大頭	Frequent (79-30%)
HP:0000268	長頭	Frequent (79-30%)
HP:0000271	顔の異常	Frequent (79-30%)
HP:0000293	大きな頬	Frequent (79-30%)
HP:0000294	低い前部毛髪線	Frequent (79-30%)
HP:0000365	難聴	Frequent (79-30%)
HP:0000407	感音難聴	Frequent (79-30%)
HP:0000488	網膜症	Frequent (79-30%)
HP:0000501	緑内障	Frequent (79-30%)
HP:0000687	歯間隔離	Frequent (79-30%)
HP:0000691	小歯	Frequent (79-30%)
HP:0001249	知的障害	Frequent (79-30%)
HP:0002024	吸収障害	Frequent (79-30%)
HP:0002104	無呼吸	Frequent (79-30%)
HP:0002205	反復性呼吸器感染症	Frequent (79-30%)
HP:0002376	発達退行	Frequent (79-30%)
HP:0002829	関節痛	Frequent (79-30%)
HP:0003272	寛骨の異常	Frequent (79-30%)
HP:0003401	感覚異常	Frequent (79-30%)
HP:0005105	異常な鼻形態	Frequent (79-30%)
HP:0005280	落ちくぼんだ鼻梁	Frequent (79-30%)
HP:0009928	分厚い鼻翼	Frequent (79-30%)
HP:0012735	咳嗽	Frequent (79-30%)
HP:0100625	胸郭拡大	Frequent (79-30%)
HP:0100765	扁桃の異常	Frequent (79-30%)
HP:0000238	水頭症	Occasional (29-5%)
HP:0000505	視力障害	Occasional (29-5%)
HP:0000648	視神経萎縮	Occasional (29-5%)
HP:0001373	関節脱臼	Occasional (29-5%)
HP:0001635	うっ血性心不全	Occasional (29-5%)
HP:0001639	肥大型心筋症	Occasional (29-5%)
HP:0001646	大動脈弁の異常	Occasional (29-5%)
HP:0001654	心弁の異常	Occasional (29-5%)
HP:0003416	脊椎管狭窄	Occasional (29-5%)
HP:0004374	片麻痺/片側不全麻痺	Occasional (29-5%)
HP:0010885	無菌性壊死	Occasional (29-5%)
HP:0100261	腱形態異常	Occasional (29-5%)

徴候・症状リスト（症例報告から取得）

合計: 12

HPO ID	徴候・症状	症例報告数
HP:0001251	運動失調	1
HP:0001638	心筋症	1
HP:0001718	僧帽弁狭窄	1
HP:0002098	呼吸窮迫	1
HP:0002176	脊髄圧迫	1
HP:0002748	くる病	1
HP:0002942	胸部後弯	1
HP:0009926	流涙の増加	1
HP:0011504	牛眼黄斑症	1
HP:0031737	Cicatricial entropion	1
HP:0100584	心内膜炎	1
HP:0200020	角膜びらん	1

疾患原因遺伝子リスト（Orphanetデータベースから取得）

合計: 0

Gene Symbol	遺伝子名	Entrez Gene ID