Mucopolysaccharidosis, Type Iva (MPS4A)

Alias:
Galns Deficiency
Galactosamine-6-Sulfatase Deficiency
Mps4a
Mucopolysaccharidosis Type Iva
Mucopolysaccharidosis Iva
Morquio a Disease
Mps Iva
Morquio Syndrome a
N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency
Mucopolysaccharidosis, Mps-Iv-a
Mucopolysaccharidosis Type 4a
Morquio Disease Type a
Mpsiva
Mucopolysaccharidosis Iv
Mucopolysaccharidosis 4a
Morquio Syndrome Type a
Morquio Disease, Type a
Morquio's Syndrome a
Mps Iv a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mucopolysaccharidosis, Type Iva, also known as galns deficiency, is related to mucopolysaccharidosis, type ivb and osteochondrodysplasia, and has symptoms including ulnar deviation of the wrist An important gene associated with Mucopolysaccharidosis, Type Iva is GALNS (Galactosamine (N-Acetyl)-6-Sulfatase), and among its related pathways/superpathways are Innate Immune System and Infectious disease. The drugs Pharmaceutical Solutions and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and bone, and related phenotypes are scoliosis and short neck
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
1-5/10000
37
309
181

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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