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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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
I型B型黏多糖贮积症,也称为I型B型黏多糖贮积症,与Charcot-Marie-Tooth病、轴突型2v和黏多糖贮积症有关,症状包括腹泻、癫痫发作和睡眠障碍。与I型B型黏多糖贮积症相关的基因是NAGLU(N-乙酰-α-葡萄糖苷酶),其相关通路/超级通路包括传染病和代谢。在该疾病的背景下,已提到的药物有胰岛素和胰岛素-血红蛋白锌。相关组织包括脊髓和骨骼,相关表型为智力障碍和癫痫发作。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
1-9/1000000
30
218
96

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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