Hurler-Scheie Syndrome (MPS1H/S)

Alias:
Mucopolysaccharidosis Type Ih/s
Mucopolysaccharidosis Ih/s
Mps1h/s
Mucopolysaccharidosis Type 1h/s
Mpsih/s
Alpha-L-Iduronidase Deficiency
Mucopolysaccharidosis I
Mucopolysaccharidosis, Mps-I-H/s
Mucopolysaccharidosis 1h/s
Mps-Ih/s
Mps1-Hs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hurler-Scheie Syndrome, also known as mucopolysaccharidosis type ih/s, is related to scheie syndrome and mononeuropathy of the median nerve, mild, and has symptoms including joint stiffness and thick skin. An important gene associated with Hurler-Scheie Syndrome is IDUA (Alpha-L-Iduronidase), and among its related pathways/superpathways are Infectious disease and Metabolism. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are coarse facial features and splenomegaly
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/1000000
11
68
151

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
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