Mucopolysaccharidosis type 2

A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.

患者の徴候・症状を入力

症例報告を絞り込む

合計: 86 （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 (50.4%)	25952974	Hunter syndrome with its typical heart: a close mimic to rheumatic heart. Madireddi J, P S, Shetty RK, Prabhu M, K M G. BMJ Case Rep. 2015;2015:. [ 抄録を表示 ] [ 抄録を非表示 ]
		粗な顔貌外反肘


		ヒトムコ多糖症II型リウマチ性心疾患希少疾患心エコー心拡大心臓弁成人男若年成人酵素補充療法
2 (41.7%)	22190500	Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2). Burruss DM, Wood TC, Espinoza L, Dwivedi A, Holden KR. J Child Neurol. 2012;27(6):786-90. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭粗な顔貌歯間隔離
		AFF2 FMR1 IDS

		ヒトヒトX染色体ムコ多糖症II型子供（未就学）染色体マッピング染色体異常核タンパク質男糖タンパク質脆弱X症候群脆弱X精神遅滞タンパク質配列欠損
3 (39.0%)	2112988	Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl. Clarke JT, Willard HF, Teshima I, Chang PL, Skomorowski MA. Clin Genet. 1990;37(5):355-62. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭
		GUSB MANBA OGA

		X染色体アリールスルファターゼイズロン酸スルファターゼスルファターゼヒトムコ多糖症II型ムコ多糖症I型劣性遺伝子女幼児
3 (39.0%)	146740	Hunter syndrome presenting as macrocephaly and hydrocephalus. Yatziv S, Epstein CJ. J Med Genet. 1977;14(6):445-7. [ 抄録を表示 ] [ 抄録を非表示 ]
		大頭


		グリコサミノグリカンヒトムコ多糖症II型子供（未就学）水頭症男症候群鑑別診断頭部
5 (38.6%)	22629520 (3354861)	Short stature with umbilical hernia - Not always due to cretinism: A report of two cases. Gadve SS, Sarma D, Saikia UK. Indian J Endocrinol Metab. 2012;16(3):453-6. [ 抄録を表示 ] [ 抄録を非表示 ]
		粗な顔貌腰椎のくちばし状前方突出



6 (37.2%)	22433425	Botulinum toxin type A for the treatment of equinus deformity in patients with mucopolysaccharidosis type II. Nava E, Weber P, Gautschi M, Nuoffer JM, Grunt S. J Child Neurol. 2012;27(12):1611-5. [ 抄録を表示 ] [ 抄録を非表示 ]
		粗な顔貌関節拘縮


		ヒトムコ多糖症II型子供（未就学）尖足幼児男筋弛緩薬
7 (37.2%)	9780074	Acute airway obstruction in Hunter syndrome. Yoskovitch A, Tewfik TL, Brouillette RT, Schloss MD, Der Kaloustian VM. Int J Pediatr Otorhinolaryngol. 1998;44(3):273-8. [ 抄録を表示 ] [ 抄録を非表示 ]
		短い頸部


		ヒトムコ多糖症II型子供気道閉塞男
7 (37.2%)	9251512	[Anesthetic management of a child with Hunter syndrome associated with sleep apnea]. Yamada K, Nakagawa I, Kubota M, Niinai H, Kamiya T. Masui. 1997;46(7):955-8. [ 抄録を表示 ] [ 抄録を非表示 ]
		短い頸部


		アデノイド切除術ヒトムコ多糖症II型人工呼吸全身麻酔子供（未就学）気管挿管気道閉塞男睡眠時無呼吸症候群術後ケア術後合併症
9 (31.0%)	23209998 (3507130)	Clinical Presentation of Mucopolysaccharidosis Type II (Hunter's Syndrome). Chinawa J, Adimora G, Obu H, Tagbo B, Ujunwa F, Onubogu I. Ann Med Health Sci Res. 2012;2(1):87-90. [ 抄録を表示 ] [ 抄録を非表示 ]
		ばち状化



10 (26.3%)	21672014	Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up. Tylki-Szymanska A, Jurecka A, Zuber Z, Rozdzynska A, Marucha J, Czartoryska B. Acta Paediatr. 2012;101(1):e42-7. [ 抄録を表示 ] [ 抄録を非表示 ]
		粗な顔貌


		イズロン酸スルファターゼヒトムコ多糖症II型双子疾患子供（未就学）幼児男経過観察酵素補充療法

徴候・症状リスト（Orphanetデータベースから取得）

合計: 34

HPO ID	徴候・症状	頻度
HP:0000179	分厚い下口唇唇紅部	Very frequent (99-80%)
HP:0000256	大頭	Very frequent (99-80%)
HP:0000268	長頭	Very frequent (99-80%)
HP:0000280	粗な顔貌	Very frequent (99-80%)
HP:0000365	難聴	Very frequent (99-80%)
HP:0000457	落ちくぼんだ鼻梁	Very frequent (99-80%)
HP:0000470	短い頸部	Very frequent (99-80%)
HP:0000648	視神経萎縮	Very frequent (99-80%)
HP:0000687	歯間隔離	Very frequent (99-80%)
HP:0000708	行動異常	Very frequent (99-80%)
HP:0001072	分厚い皮膚	Very frequent (99-80%)
HP:0001085	乳頭浮腫	Very frequent (99-80%)
HP:0001744	脾腫	Very frequent (99-80%)
HP:0002187	知的障害, 最重度	Very frequent (99-80%)
HP:0002230	全身性多毛	Very frequent (99-80%)
HP:0003510	重度の低身長	Very frequent (99-80%)
HP:0005280	落ちくぼんだ鼻梁	Very frequent (99-80%)
HP:0008155	ムコ多糖症	Very frequent (99-80%)
HP:0000023	鼠径ヘルニア	Frequent (79-30%)
HP:0000303	下顎突出	Frequent (79-30%)
HP:0000403	反復性中耳炎	Frequent (79-30%)
HP:0000767	漏斗胸	Frequent (79-30%)
HP:0001250	発作	Frequent (79-30%)
HP:0001537	臍ヘルニア	Frequent (79-30%)
HP:0001626	心血管系	Frequent (79-30%)
HP:0002024	吸収障害	Frequent (79-30%)
HP:0003272	寛骨の異常	Frequent (79-30%)
HP:0007703	網膜色素異常	Frequent (79-30%)
HP:0000158	巨舌	Occasional (29-5%)
HP:0000508	眼瞼下垂	Occasional (29-5%)
HP:0001387	関節拘縮	Occasional (29-5%)
HP:0001601	喉頭軟化症	Occasional (29-5%)
HP:0002777	気管狭窄	Occasional (29-5%)
HP:0002808	後弯	Occasional (29-5%)

徴候・症状リスト（症例報告から取得）

合計: 38

HPO ID	徴候・症状	症例報告数
HP:0001297	卒中	3
HP:0000023	鼠径ヘルニア	2
HP:0001433	肝脾腫	2
HP:0004322	低身長	2
HP:0010307	喘鳴	2
HP:0010535	睡眠時無呼吸	2
HP:0000256	大頭	1
HP:0000572	視力喪失	1
HP:0001257	痙性	1
HP:0001263	全般性発達遅滞	1
HP:0001334	交通性水頭症	1
HP:0001395	肝線維症	1
HP:0001678	房室ブロック	1
HP:0001718	僧帽弁狭窄	1
HP:0001878	溶血性貧血	1
HP:0002094	呼吸困難	1
HP:0002133	てんかん重積	1
HP:0002140	虚血卒中	1
HP:0002196	ミエロパチー	1
HP:0002240	肝腫大	1
HP:0002318	頚髄ミエロパチー	1
HP:0002777	気管狭窄	1
HP:0002791	低換気	1
HP:0002870	閉塞性睡眠時無呼吸	1
HP:0002878	呼吸不全	1
HP:0003198	ミオパチー	1
HP:0003302	脊椎すべり症	1
HP:0003423	胸腰椎後側弯	1
HP:0008430	腰椎のくちばし状前方突出	1
HP:0011951	誤嚥性肺炎	1
HP:0012307	へら状肋骨	1
HP:0025267	Snoring	1
HP:0025324	Arterial occlusion	1
HP:0030148	Heart murmur	1
HP:0031625	偽動脈瘤	1
HP:0100014	上網膜核	1
HP:0100832	飛蚊症	1
HP:0200034	丘疹	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