| H00129 | |
| H番号 | H00129 |
| 名称 | ムコ多糖症 II 型; ハンター症候群 |
| 概要 | Mucopolysaccharidosis type II (MPS2) is an X-linked lysosomal storage disorder caused by deficient activity of iduronate-2-sulfatase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs, as well as elevated metabolite levels in urine. The heterogeneity of clinical phenotypes, ranging from mild-to-severe forms, is a result of different mutations in the IDS gene. This disorder is characterized by mental retardation, coarse faces, short stature, hearing loss, hydrocephalus, hepatosplenomegaly, dysostosis multiplex, airway obstruction, and cardiac valve disease. |
| カテゴリ | 先天性代謝異常症, ライソゾーム病 |
| ネットワーク | nt06012(H00129) Glycosaminoglycan degradation |
| 病因遺伝子 | (MPS2) IDS [HSA:3423] [KO:K01136] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | イデュルスルファーゼ [DR:D04499] イデュルスルファーゼベータ [DR:D11025] パビナフスプアルファ [DR:D11812] シクロホスファミド水和物 [DR:D00287] |
| コメント | - |
| リンク | ICD-11: 5C56.31 ICD-10: E76.1 MeSH: D016532 OMIM: 309900 |
| 文献 | PMID:18618289 著者 Al Sawaf S, Mayatepek E, Hoffmann B タイトル Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. 雑誌 J Inherit Metab Dis 31:473-80 (2008) DOI:10.1007/s10545-008-0878-x PMID:18708002 著者 Heese BA タイトル Current strategies in the management of lysosomal storage diseases. 雑誌 Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:1901826 (MPS2) 著者 Wilson PJ, Suthers GK, Callen DF, Baker E, Nelson PV, Cooper A, Wraith JE, Sutherland GR, Morris CP, Hopwood JJ タイトル Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome. 雑誌 Hum Genet 86:505-8 (1991) DOI:10.1007/BF00194643 |