Mucopolysaccharidosis, Type Ii; Mps2
Description
Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).
Clinical Features
Top most frequent phenotypes and symptoms related to Mucopolysaccharidosis, Type Ii; Mps2
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Ptosis
- Cognitive impairment
- Flexion contracture
- Visual impairment
- Hepatomegaly
- Macrocephaly
And another 62 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Mucopolysaccharidosis, Type Ii; Mps2 Is also known as hunter syndrome, sulfoiduronate sulfatase deficiency, sids deficiency, mps ii, ids deficiency, iduronate 2-sulfatase deficiency.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Mucopolysaccharidosis, Type Ii; Mps2 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
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