MPS II - Hunter syndrome (HS-GAG degradation)

Stable Identifier
R-HSA-2206296
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
MPS II - Hunter syndrome (HS-GAG degradation)
Click the image above or here to open this pathway in the Pathway Browser
Mucopolysaccharidosis II (MPS II, Hunter syndrome, MIM:309900) is an X-linked, recessive genetic disorder which therefore primarily affects males. MPS II was first described in 1917, by Major Charles Hunter (Hunter 1917) and is caused by a deficiency (or absence) of iduronate-2-sulfatase (IDS, MIM:300823), which would normally hydrolyse the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin. Without IDS, these GAGs accumulate in the body and are excessively excreted in urine. Although the disease was known since the early 1970s, being the first MPS to be defined clinically in humans, it wasn't until the 1990s that IDS was cloned. It is now known to be localized to Xq28 (Wilson et al. 1991) and contain 9 exons (Flomen et al. 1993) spanning approximately 24 kb (Wilson et al. 1993).
Build up can occur in the liver and spleen as well as in the walls and valves of the heart (reduced hepatic and cardiac function, liver/spleen hepatosplenomegaly), airways (leading to obstructive airway disease), all major joints and bones (joint stiffness and skeletal deformities) and in brain (severe mental retardation). The rate of progression and degree of severity of the disorder can be different for each person with MPS II. Severe forms of the disorder can result in death in childhood whereas those with a "milder" form can expect to live to their 20's or 30's. Some patients even survive into their fifth and sixth decades of life (Wraith et al. 2008, Beck 2011).
Literature References
PubMed ID Title Journal Year
8490623 Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene

Flomen, RH, Green, EP, Green, PM, Bentley, DR, Giannelli, F

Hum. Mol. Genet. 1993
1901826 Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

Wilson, PJ, Suthers, GK, Callen, DF, Baker, E, Nelson, PV, Cooper, A, Wraith, JE, Sutherland, GR, Morris, CP, Hopwood, JJ

Hum. Genet. 1991
18038146 Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

Wraith, JE, Scarpa, M, Beck, M, Bodamer, OA, De Meirleir, L, Guffon, N, Meldgaard Lund, A, Malm, G, Van der Ploeg, AT, Zeman, J

Eur J Pediatr 2008
8244397 Sequence of the human iduronate 2-sulfatase (IDS) gene

Wilson, PJ, Meaney, CA, Hopwood, JJ, Morris, CP

Genomics 1993
19979883 A Rare Disease in Two Brothers

Hunter, C

Proc. R. Soc. Med. 1917
21235446 Mucopolysaccharidosis Type II (Hunter Syndrome): clinical picture and treatment

Beck, M

Curr Pharm Biotechnol 2011
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
mucopolysaccharidosis II DOID:12799 Hunter's syndrome, mucopolysaccharidosis type II, Hunter's syndrome, Mucopolysaccharidosis, MPS-II (disorder), deficiency of iduronate-2-sulphatase
Cross References
Mondo
Authored
Jassal, B  (2012-04-26)
Reviewed
Coutinho, MF  (2012-08-27)
Alves, S  (2012-08-27)
Matos, L  (2012-08-27)
Matthews, L  (2025-05-28)
Created
Jassal, B  (2012-04-26)
Cite Us!