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Mucopolysaccharidosis type 2, attenuated form

MedGen UID:
1826165
•Concept ID:
C5679815
•
Disease or Syndrome
Synonyms: Hunter syndrome type B; Iduronate 2-sulfatase deficiency type B; iduronate 2-sulfatase deficiency type B; MPS2B; MPSIIB; mucopolysaccharidosis type 2, attenuated form; Mucopolysaccharidosis type 2B; mucopolysaccharidosis type 2B; Mucopolysaccharidosis type II, attenuated form; mucopolysaccharidosis type II, attenuated form; Mucopolysaccharidosis type IIB; mucopolysaccharidosis type IIB
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:0016316
Orphanet: ORPHA217093

Definition

Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMucopolysaccharidosis type 2, attenuated 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

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
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
Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status.
Marucha J, Jurecka A, Syczewska M, Różdżyńska-Świątkowska A, Tylki-Szymańska A
Acta Paediatr 2012 Apr;101(4):e183-8. Epub 2011 Dec 1 doi: 10.1111/j.1651-2227.2011.02522.x. PMID: 22077147

Diagnosis

Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter's syndrome.
Dos Santos Martins TG, de Azevedo Costa ALF, Pimentel SLG, Oyamada MK, Finzi S
Doc Ophthalmol 2023 Jun;146(3):273-279. Epub 2023 Feb 20 doi: 10.1007/s10633-023-09924-z. PMID: 36807032
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.
Guffon N, Journeau P, Brassier A, Leger J, Chevallier B
Eur J Pediatr 2019 Apr;178(4):593-603. Epub 2019 Feb 11 doi: 10.1007/s00431-019-03330-x. PMID: 30740618Free PMC Article
Attenuated form of type II mucopolysaccharidoses (Hunter syndrome): pitfalls and potential clues in diagnosis.
Chakraborty PP, Patra S, Biswas SN, Barman H
BMJ Case Rep 2018 Feb 23;2018 doi: 10.1136/bcr-2018-224392. PMID: 29478001Free PMC Article
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

Therapy

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's syndrome.
Tylki-Szymańska A
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:107-13. PMID: 25345092
High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.
Ahn SY, Chang YS, Sung DK, Ko AR, Kim CH, Yoo DK, Lim KH, Sohn YB, Jin DK, Park WS
J Hum Genet 2013 Nov;58(11):728-33. Epub 2013 Sep 5 doi: 10.1038/jhg.2013.92. PMID: 24005894
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

Prognosis

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
Mucopolysaccharidosis type II, Hunter's syndrome.
Tylki-Szymańska A
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:107-13. PMID: 25345092
The first cardiac transplant experience in a patient with mucopolysaccharidosis.
Grinberg H, Quaio CR, Avila MS, Ferreira SM, Vieira ML, Benvenuti LA, Kim CA, Bocchi EA
Cardiovasc Pathol 2012 Jul-Aug;21(4):358-60. Epub 2011 Dec 6 doi: 10.1016/j.carpath.2011.10.004. PMID: 22153556
Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status.
Marucha J, Jurecka A, Syczewska M, Różdżyńska-Świątkowska A, Tylki-Szymańska A
Acta Paediatr 2012 Apr;101(4):e183-8. Epub 2011 Dec 1 doi: 10.1111/j.1651-2227.2011.02522.x. PMID: 22077147
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry.
Tomatsu S, Montaño AM, Oguma T, Dung VC, Oikawa H, de Carvalho TG, Gutiérrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Kida K, Kubota M, Barrera L, Orii T
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S35-42. Epub 2010 Jan 27 doi: 10.1007/s10545-009-9013-x. PMID: 20107903

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
Mental retardation in mucopolysaccharidoses correlates with high molecular weight urinary heparan sulphate derived glucosamine.
Coppa GV, Gabrielli O, Zampini L, Maccari F, Mantovani V, Galeazzi T, Santoro L, Padella L, Marchesiello RL, Galeotti F, Volpi N
Metab Brain Dis 2015 Dec;30(6):1343-8. Epub 2015 May 29 doi: 10.1007/s11011-015-9684-y. PMID: 26016623
Mucopolysaccharidosis type II, Hunter's syndrome.
Tylki-Szymańska A
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:107-13. PMID: 25345092
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry.
Tomatsu S, Montaño AM, Oguma T, Dung VC, Oikawa H, de Carvalho TG, Gutiérrez ML, Yamaguchi S, Suzuki Y, Fukushi M, Kida K, Kubota M, Barrera L, Orii T
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S35-42. Epub 2010 Jan 27 doi: 10.1007/s10545-009-9013-x. PMID: 20107903

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