Mucopolysaccharidosis, Type Iiid (MPS3D)

Alias:
Mucopolysaccharidosis Type Iiid
Mps3d
Mps Iiid
N-Acetylglucosamine-6-Sulfatase Deficiency
Mucopolysaccharidosis Type 3d
Sanfilippo Syndrome Type D
Gns Deficiency
Glucosamine N-Acetyl-6-Sulfatase Deficiency
Sanfilippo Syndrome D
Mpsiiid
Mucopolysaccharidosis, Mps-Iii-D
Mucopolysaccharidosis 3d
Sanfilippo D Syndrome
Mps Iii-D
Mps Iii D
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mucopolysaccharidosis, Type Iiid, also known as mucopolysaccharidosis type iiid, is related to mucopolysaccharidoses and mucopolysaccharidosis-plus syndrome, and has symptoms including diarrhea, seizures and joint stiffness. An important gene associated with Mucopolysaccharidosis, Type Iiid is GNS (Glucosamine (N-Acetyl)-6-Sulfatase), and among its related pathways/superpathways are Infectious disease and Metabolism. Affiliated tissues include spinal cord and eye, and related phenotypes are macrocephaly and frontal bossing
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
1-9/1000000
15
81
20

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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