Mucopolysaccharidosis, Type Iiib (MPS3B)

Alias:
Mucopolysaccharidosis Type Iiib
Mps3b
N-Acetyl-Alpha-Glucosaminidase Deficiency
Mucopolysaccharidosis Type 3b
Sanfilippo Syndrome Type B
Naglu Deficiency
Mpsiiib
N-Acetyl-Alpha-D-Glucosaminidase Deficiency
Sanfilippo Syndrome B
Mps Iii B
Mps Iiib
Mucopolysaccharidosis, Mps-Iii-B
Mucopoly-Saccharidosis Type 3b
Mucopolysaccharidosis 3b
Mps Iii-B
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mucopolysaccharidosis, Type Iiib, also known as mucopolysaccharidosis type iiib, is related to charcot-marie-tooth disease, axonal, type 2v and mucopolysaccharidoses, and has symptoms including diarrhea, seizures and sleep disturbances. An important gene associated with Mucopolysaccharidosis, Type Iiib is NAGLU (N-Acetyl-Alpha-Glucosaminidase), and among its related pathways/superpathways are Infectious disease and Metabolism. The drugs Insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and bone, and related phenotypes are intellectual disability and seizure
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
30
220
96

Medical Symptom

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

Gene & Mutation

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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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