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
— 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.
Accelerate your rare disease diagnosis with us
Mucopolysaccharidosis, Type Ii; Mps2 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 IDS Comprehensive - Sequence & Deletion/Duplication w/ Inversion Analysis.
By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
|
IDS Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
|
IDS Deletion/Duplication Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
|
IDS Deletion/Duplication with Inversion Analysis.
By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
|
IDS Inversion Analysis.
By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
|
IDS Inversion Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
|
IDS Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
|
IDS Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
IDS
Specificity
100 %
Genes
100 % |
Sources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53 METACARPAL 4-5 FUSION; MF4 FLECK RETINA, FAMILIAL BENIGN; FRFB DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3; CBAS3
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
