Entry |
|
Name |
Mucopolysaccharidosis type II; Hunter syndrome |
Supergrp |
Mucopolysaccharidosis [DS: H00421] Lysosomal storage disease [DS: H01425] |
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 disease; Lysosomal storage disease
|
Brite |
Human diseases [BR:br08402]
Congenital disorders of metabolism
Congenital disorders of glycan/glycoprotein metabolism
H00129 Mucopolysaccharidosis type II
Lysosomal storage diseases
H00129 Mucopolysaccharidosis type II
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 Lysosomal diseases
H00129 Mucopolysaccharidosis type II
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Pathway |
|
Network |
nt06012 Glycosaminoglycan degradation |
Element |
N00614 | IDS deficiency in dermatan sulfate degradation |
N00622 | IDS deficiency in heparan sulfate degradation |
|
Gene |
(MPS2) IDS; iduronate 2-sulfatase [HSA: 3423] [KO: K01136]
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Drug |
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Other DBs |
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Reference |
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Authors |
Al Sawaf S, Mayatepek E, Hoffmann B |
Title |
Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. |
Journal |
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Reference |
|
Authors |
Heese BA |
Title |
Current strategies in the management of lysosomal storage diseases. |
Journal |
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LinkDB |
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