Hurler Syndrome (MPS1H)

Alias:
Mucopolysaccharidosis Type Ih
Mucopolysaccharidosis Ih
Mps1h
Alpha-L-Iduronidase Deficiency
Mucopolysaccharidosis Type 1h
Hurler Disease
Mps1-H
Mpsih
Mucopolysaccharidosis Type I Severe Form
L-Iduronidase Deficiency, Hurler Type
Dysostosis Multiplex Syndrome
Hurler Disease Mps Type 1h
Hurler-Pfaundler Syndrome
Pfaundler-Hurler Syndrome
Mucopolysaccharidosis 1h
Mucopolysaccharidosis I
Dysostosis Multiplex
Hurler's Syndrome
Gargoylism
Mps Ih
Mps-Ih
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hurler Syndrome, also known as mucopolysaccharidosis type ih, is related to mucolipidosis iii gamma and glycoproteinosis, and has symptoms including joint stiffness An important gene associated with Hurler Syndrome is IDUA (Alpha-L-Iduronidase), and among its related pathways/superpathways are Innate Immune System and Infectious disease. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone and brain, and related phenotypes are intellectual disability and frontal bossing
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
23
138
222

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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