Mucopolysaccharidosis, Type Ii (MPS2)

Alias:
Hunter Syndrome
Iduronate 2-Sulfatase Deficiency
Mucopolysaccharidosis Ii
Mucopolysaccharidosis Type Ii
Mps Ii
Mps2
Sulfoiduronate Sulfatase Deficiency
Mucopolysaccharidosis, Mps-Ii
Mucopolysaccharidosis Type 2
Mucopolysaccharidosis Type 2, Severe Form
Sids Deficiency
Ids Deficiency
Mpsii
Mucopolysaccharidosis Type Ii, Attenuated Form
Mucopolysaccharidosis Type 2, Attenuated Form
Mucopolysaccharidosis Type Ii, Severe Form
Iduronate 2-Sulfatase Deficiency Type B
Iduronate 2-Sulfatase Deficiency Type a
Sulphoiduronidate Sulphatase Deficiency
Sulpho-Iduronate Sulphatase Deficiency
Sulfoiduronidate Sulfatase Deficiency
Deficiency of Iduronate-2-Sulphatase
Sulfo-Iduronate Sulfatase Deficiency
Iduronate 2-Sulphatase Deficiency
Iduronate-2-Sulfatase Deficiency
Mps2 - [mucopolysaccharidosis 2]
Iduronate Sulphatase Deficiency
Mucopolysaccharidosis Type Iib
Mucopolysaccharidosis Type Iia
Iduronate Sulfatase Deficiency
Mucopolysaccharidosis Type 2b
Mucopolysaccharidosis Type 2a
Mps Ii - Hunter Syndrome
Mucopolysaccharidosis 2
Hunter Syndrome Type B
Hunter Syndrome Type a
Hunter's Syndrome
Hunters Syndrome
I2s Deficiency
Mpsiib
Mpsiia
Mps2b
Mps2a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mucopolysaccharidosis, Type Ii, also known as hunter syndrome, is related to mucopolysaccharidosis with skin involvement and mucopolysaccharidosis-plus syndrome, and has symptoms including diarrhea, hoarseness and seizures. An important gene associated with Mucopolysaccharidosis, Type Ii is IDS (Iduronate 2-Sulfatase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Rituximab and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and skin, and related phenotypes are macrocephaly and muscle weakness
Related ID:
MESH:D016532
ICD11:1056274204

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Child
1-9/1000000
32
247
224

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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