H00129 | |
H number | H00129 |
Name | Mucopolysaccharidosis type II; Hunter syndrome |
Description | 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. |
Category | Inherited metabolic disorder, Lysosomal disease |
Network | nt06012(H00129) Glycosaminoglycan degradation |
Gene | (MPS2) IDS [HSA:3423] [KO:K01136] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Idursulfase [DR:D04499] |
Comment | - |
Other DBs | ICD-11: 5C56.31 ICD-10: E76.1 MeSH: D016532 OMIM: 309900 |
Reference | PMID:18618289 AUTHORS Al Sawaf S, Mayatepek E, Hoffmann B TITLE Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. JOURNAL J Inherit Metab Dis 31:473-80 (2008) DOI:10.1007/s10545-008-0878-x PMID:18708002 AUTHORS Heese BA TITLE Current strategies in the management of lysosomal storage diseases. JOURNAL Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:1901826 (MPS2) AUTHORS Wilson PJ, Suthers GK, Callen DF, Baker E, Nelson PV, Cooper A, Wraith JE, Sutherland GR, Morris CP, Hopwood JJ TITLE Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome. JOURNAL Hum Genet 86:505-8 (1991) DOI:10.1007/BF00194643 |