Scheie Syndrome (MPS1S)

Alias:
Alpha-L-Iduronidase Deficiency
Mucopolysaccharidosis Type is
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type 1
Mucopolysaccharidosis I
Mucopolysaccharidosis Type 1s
Mucopolysaccharidosis Type V
Hurler-Scheie Syndrome
Mps1s
Mucopolysaccharidosis, Type I
Mucopolysaccharidosis is
Lipochondrodystrophy
Hurler Syndrome
Idua Deficiency
Mps I
Mpsis
Mpsi
Mps1
Mucopolysaccharidosis Type V, Formerly
Mps1 - [mucopolysaccharidosis Type 1]
Iduronidase Deficiency Disease
Mucopolysaccharidosis, Mps-I-S
Dysostosis Multiplex Syndrome
Mucopolysaccharidosis, Type 1
Mucopolysaccharidosis, Mps-I
Pfaundler-Hurler Syndrome
Mucopolysaccharidosis 1s
L-Iduronidase Deficiency
Mps I - Hurler Syndrome
Mucopolysaccharidosis V
Dysostosis Multiplex
Mps V, Formerly
Mps5, Formerly
Gargoylism
Mps I H-S
Mps I H
Mps I S
Mps1-S
Mps is
Mps-is
Mps V
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Scheie Syndrome, also known as alpha-l-iduronidase deficiency, is related to hurler-scheie syndrome and mucolipidosis ii alpha/beta, and has symptoms including joint stiffness and thick skin. An important gene associated with 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 spinal cord, and related phenotypes are scoliosis and coarse facial features
Related ID:
MESH:D008059
ICD11:1539226250

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
<1/1000000
33
223
192

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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