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Mucopolysaccharidosis, type II, mild form

MedGen UID:
575247
•Concept ID:
C0342842
•
Disease or Syndrome
Synonym: MUCOPOLYSACCHARIDOSIS, TYPE II, MILD FORM
SNOMED CT: Hunter's syndrome, mild form (5667009); Hunter syndrome, mild form (5667009); Mucopolysaccharidosis type II mild form (5667009)
 
OMIM®: 300823

Recent clinical studies

Etiology

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.
Stephan BO, Quaio CR, Spolador GM, de Paula AC, Curiati MA, Martins AM, Leal GN, Tenorio A, Finzi S, Chimelo FT, Matas CG, Honjo RS, Bertola DR, Kim CA
Clinics (Sao Paulo) 2022;77:100082. Epub 2022 Jul 23 doi: 10.1016/j.clinsp.2022.100082. PMID: 35882106Free PMC Article
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).
Semyachkina AN, Voskoboeva EY, Nikolaeva EA, Zakharova EY
BMC Med Genomics 2021 Mar 6;14(1):71. doi: 10.1186/s12920-021-00922-1. PMID: 33676511Free PMC Article
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.
Lin HY, Chuang CK, Huang YH, Tu RY, Lin FJ, Lin SJ, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Chien YH, Lin JL, Chou YY, Tsai WH, Chang TM, Lin SP
Orphanet J Rare Dis 2016 Jun 27;11(1):85. doi: 10.1186/s13023-016-0471-6. PMID: 27349225Free PMC Article
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS
J Med Genet 2016 Jun;53(6):403-18. Epub 2016 Feb 23 doi: 10.1136/jmedgenet-2015-103322. PMID: 26908836Free PMC Article
Neuroimaging findings in patient series with mucopolysaccharidosis.
Calleja Gero ML, González Gutiérrez-Solana L, López Marín L, López Pino MA, Fournier Del Castillo C, Duat Rodríguez A
Neurologia 2012 Sep;27(7):407-13. Epub 2011 Dec 15 doi: 10.1016/j.nrl.2011.10.007. PMID: 22178048

Diagnosis

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.
Stephan BO, Quaio CR, Spolador GM, de Paula AC, Curiati MA, Martins AM, Leal GN, Tenorio A, Finzi S, Chimelo FT, Matas CG, Honjo RS, Bertola DR, Kim CA
Clinics (Sao Paulo) 2022;77:100082. Epub 2022 Jul 23 doi: 10.1016/j.clinsp.2022.100082. PMID: 35882106Free PMC Article
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.
Lin HY, Chuang CK, Huang YH, Tu RY, Lin FJ, Lin SJ, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Chien YH, Lin JL, Chou YY, Tsai WH, Chang TM, Lin SP
Orphanet J Rare Dis 2016 Jun 27;11(1):85. doi: 10.1186/s13023-016-0471-6. PMID: 27349225Free PMC Article
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS
J Med Genet 2016 Jun;53(6):403-18. Epub 2016 Feb 23 doi: 10.1136/jmedgenet-2015-103322. PMID: 26908836Free PMC Article
Neuroimaging findings in patient series with mucopolysaccharidosis.
Calleja Gero ML, González Gutiérrez-Solana L, López Marín L, López Pino MA, Fournier Del Castillo C, Duat Rodríguez A
Neurologia 2012 Sep;27(7):407-13. Epub 2011 Dec 15 doi: 10.1016/j.nrl.2011.10.007. PMID: 22178048
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article

Therapy

Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).
Semyachkina AN, Voskoboeva EY, Nikolaeva EA, Zakharova EY
BMC Med Genomics 2021 Mar 6;14(1):71. doi: 10.1186/s12920-021-00922-1. PMID: 33676511Free PMC Article
Genetics and Gene Therapy in Hunter Disease.
Sestito S, Falvo F, Scozzafava C, Apa R, Pensabene L, Bonapace G, Moricca MT, Concolino D
Curr Gene Ther 2018;18(2):90-95. doi: 10.2174/1566523218666180404155759. PMID: 29618310
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.
Manara R, Rampazzo A, Cananzi M, Salviati L, Mardari R, Drigo P, Tomanin R, Gasparotto N, Priante E, Scarpa M
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S67-72. Epub 2010 Jan 6 doi: 10.1007/s10545-009-9023-8. PMID: 20052546
Significance of extensive Mongolian spots in Hunter's syndrome.
Ochiai T, Ito K, Okada T, Chin M, Shichino H, Mugishima H
Br J Dermatol 2003 Jun;148(6):1173-8. doi: 10.1046/j.1365-2133.2003.05317.x. PMID: 12828746
Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome).
Peters C, Krivit W
Bone Marrow Transplant 2000 May;25(10):1097-9. doi: 10.1038/sj.bmt.1702398. PMID: 10828872

Prognosis

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.
Stephan BO, Quaio CR, Spolador GM, de Paula AC, Curiati MA, Martins AM, Leal GN, Tenorio A, Finzi S, Chimelo FT, Matas CG, Honjo RS, Bertola DR, Kim CA
Clinics (Sao Paulo) 2022;77:100082. Epub 2022 Jul 23 doi: 10.1016/j.clinsp.2022.100082. PMID: 35882106Free PMC Article
The natural history of neurocognition in MPS disorders: A review.
Shapiro EG, Eisengart JB
Mol Genet Metab 2021 May;133(1):8-34. Epub 2021 Mar 11 doi: 10.1016/j.ymgme.2021.03.002. PMID: 33741271
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.
Lin HY, Chuang CK, Huang YH, Tu RY, Lin FJ, Lin SJ, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Chien YH, Lin JL, Chou YY, Tsai WH, Chang TM, Lin SP
Orphanet J Rare Dis 2016 Jun 27;11(1):85. doi: 10.1186/s13023-016-0471-6. PMID: 27349225Free PMC Article
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS
J Med Genet 2016 Jun;53(6):403-18. Epub 2016 Feb 23 doi: 10.1136/jmedgenet-2015-103322. PMID: 26908836Free PMC Article
Mucopolysaccharidosis VI.
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article

Clinical prediction guides

The natural history of neurocognition in MPS disorders: A review.
Shapiro EG, Eisengart JB
Mol Genet Metab 2021 May;133(1):8-34. Epub 2021 Mar 11 doi: 10.1016/j.ymgme.2021.03.002. PMID: 33741271
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).
Semyachkina AN, Voskoboeva EY, Nikolaeva EA, Zakharova EY
BMC Med Genomics 2021 Mar 6;14(1):71. doi: 10.1186/s12920-021-00922-1. PMID: 33676511Free PMC Article
Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome.
Marazza A, Galli C, Fasana E, Sgrignani J, Burda P, Fassi EMA, Baumgartner M, Cavalli A, Molinari M
DNA Cell Biol 2020 Feb;39(2):226-234. Epub 2020 Jan 2 doi: 10.1089/dna.2019.5221. PMID: 31895584
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS
J Med Genet 2016 Jun;53(6):403-18. Epub 2016 Feb 23 doi: 10.1136/jmedgenet-2015-103322. PMID: 26908836Free PMC Article
Neuroimaging findings in patient series with mucopolysaccharidosis.
Calleja Gero ML, González Gutiérrez-Solana L, López Marín L, López Pino MA, Fournier Del Castillo C, Duat Rodríguez A
Neurologia 2012 Sep;27(7):407-13. Epub 2011 Dec 15 doi: 10.1016/j.nrl.2011.10.007. PMID: 22178048

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