Mucopolysaccharidosis, Type Ii; Mps2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Mucopolysaccharidosis, Type Ii; Mps2

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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.

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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
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 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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