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Mucopolysaccharidosis type 2, severe form

MedGen UID:
575246
•Concept ID:
C0342841
•
Disease or Syndrome
Synonym: Mucopolysaccharidosis, type II, severe form
SNOMED CT: Hunter's syndrome, severe form (73146005); Hunter syndrome, severe form (73146005); Mucopolysaccharidosis type II severe form (73146005)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016315
OMIM®: 300823
Orphanet: ORPHA217085

Definition

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMucopolysaccharidosis type 2, severe form

Professional guidelines

PubMed

Management of the behavioural manifestations of Hunter syndrome.
Roberts J, Stewart C, Kearney S
Br J Nurs 2016 Jan 14-27;25(1):22, 24, 26-30. doi: 10.12968/bjon.2016.25.1.22. PMID: 26768041
Mucopolysaccharidosis Type II (Hunter Syndrome): clinical picture and treatment.
Beck M
Curr Pharm Biotechnol 2011 Jun;12(6):861-6. doi: 10.2174/138920111795542714. PMID: 21235446
Management of infusion-related reactions to enzyme replacement therapy in a cohort of patients with mucopolysaccharidosis disorders.
Miebach E
Int J Clin Pharmacol Ther 2009;47 Suppl 1:S100-6. doi: 10.5414/cpp47100. PMID: 20040319

Recent clinical studies

Etiology

Effect of Anti-Iduronate 2-Sulfatase Antibodies in Patients with Mucopolysaccharidosis Type II Treated with Enzyme Replacement Therapy.
Vollebregt AAM, Hoogeveen-Westerveld M, Ruijter GJ, van den Hout H, Oussoren E, van der Ploeg AT, Pijnappel WWMP
J Pediatr 2022 Sep;248:100-107.e3. Epub 2022 May 11 doi: 10.1016/j.jpeds.2022.05.008. PMID: 35568060
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.
Wijburg FA, Aiach K, Chakrapani A, Eisengart JB, Giugliani R, Héron B, Muschol N, O'Neill C, Olivier S, Parker S
Mol Genet Metab 2022 Feb;135(2):133-142. Epub 2021 Dec 10 doi: 10.1016/j.ymgme.2021.12.002. PMID: 34991944
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S, Ohno K, Okuyama T, Sakuraba H
PLoS One 2016;11(10):e0163964. Epub 2016 Oct 3 doi: 10.1371/journal.pone.0163964. PMID: 27695081Free 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
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).
Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS Investigators
J Inherit Metab Dis 2009 Aug;32(4):534-43. Epub 2009 Jul 14 doi: 10.1007/s10545-009-1119-7. PMID: 19597960

Diagnosis

An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.
Wijburg FA, Aiach K, Chakrapani A, Eisengart JB, Giugliani R, Héron B, Muschol N, O'Neill C, Olivier S, Parker S
Mol Genet Metab 2022 Feb;135(2):133-142. Epub 2021 Dec 10 doi: 10.1016/j.ymgme.2021.12.002. PMID: 34991944
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S, Ohno K, Okuyama T, Sakuraba H
PLoS One 2016;11(10):e0163964. Epub 2016 Oct 3 doi: 10.1371/journal.pone.0163964. PMID: 27695081Free PMC Article
Mucopolysaccharidosis type II, Hunter's syndrome.
Tylki-Szymańska A
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:107-13. PMID: 25345092
Neurologic manifestations of inherited disorders of connective tissue.
Debette S, Germain DP
Handb Clin Neurol 2014;119:565-76. doi: 10.1016/B978-0-7020-4086-3.00037-0. PMID: 24365320
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

Gene Therapy for Mucopolysaccharidosis Type II-A Review of the Current Possibilities.
Zapolnik P, Pyrkosz A
Int J Mol Sci 2021 May 23;22(11) doi: 10.3390/ijms22115490. PMID: 34070997Free 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
Management of the behavioural manifestations of Hunter syndrome.
Roberts J, Stewart C, Kearney S
Br J Nurs 2016 Jan 14-27;25(1):22, 24, 26-30. doi: 10.12968/bjon.2016.25.1.22. PMID: 26768041
Therapy for the mucopolysaccharidoses.
Valayannopoulos V, Wijburg FA
Rheumatology (Oxford) 2011 Dec;50 Suppl 5:v49-59. doi: 10.1093/rheumatology/ker396. PMID: 22210671
Mucopolysaccharidosis Type II (Hunter Syndrome): clinical picture and treatment.
Beck M
Curr Pharm Biotechnol 2011 Jun;12(6):861-6. doi: 10.2174/138920111795542714. PMID: 21235446

Prognosis

An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.
Wijburg FA, Aiach K, Chakrapani A, Eisengart JB, Giugliani R, Héron B, Muschol N, O'Neill C, Olivier S, Parker S
Mol Genet Metab 2022 Feb;135(2):133-142. Epub 2021 Dec 10 doi: 10.1016/j.ymgme.2021.12.002. PMID: 34991944
Gene Therapy for Mucopolysaccharidosis Type II-A Review of the Current Possibilities.
Zapolnik P, Pyrkosz A
Int J Mol Sci 2021 May 23;22(11) doi: 10.3390/ijms22115490. PMID: 34070997Free 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 type II, Hunter's syndrome.
Tylki-Szymańska A
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:107-13. PMID: 25345092
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

Effect of Anti-Iduronate 2-Sulfatase Antibodies in Patients with Mucopolysaccharidosis Type II Treated with Enzyme Replacement Therapy.
Vollebregt AAM, Hoogeveen-Westerveld M, Ruijter GJ, van den Hout H, Oussoren E, van der Ploeg AT, Pijnappel WWMP
J Pediatr 2022 Sep;248:100-107.e3. Epub 2022 May 11 doi: 10.1016/j.jpeds.2022.05.008. PMID: 35568060
Gene Therapy for Mucopolysaccharidosis Type II-A Review of the Current Possibilities.
Zapolnik P, Pyrkosz A
Int J Mol Sci 2021 May 23;22(11) doi: 10.3390/ijms22115490. PMID: 34070997Free 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 type II, Hunter's syndrome.
Tylki-Szymańska A
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:107-13. PMID: 25345092
Neurologic manifestations of inherited disorders of connective tissue.
Debette S, Germain DP
Handb Clin Neurol 2014;119:565-76. doi: 10.1016/B978-0-7020-4086-3.00037-0. PMID: 24365320

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