Mucopolysaccharidosis Iv (MPS4)

Alias:
Morquio Syndrome
Mucopolysaccharidosis Type 4
Mucopolysaccharidosis Type Iv
Morquio Disease
Galactosamine-6-Sulfatase Deficiency
Morquio-Brailsford Disease
Mpsiv
Mps4
Deficiency of N-Acetylgalactosamine-6-Sulphatase
Deficiency of Chondroitinsulphatase
Mucopolysaccharidosis, Mps-Iv-a
Mucopolysaccharidosis Type Ivb
Mucopolysaccharidosis, Mps-Iv
Mucopolysaccharidosis Iv
Chondroosteodystrophy
Osteochondrodystrophy
Morquio's Syndrome
Morquio's Disease
Morquios Syndrome
Galns Deficiency
Mps Iv
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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型黏多糖贮积症,又称莫基奥综合症,与骨软骨发育不全和迪格韦-梅尔奇奥-克劳森病有关,症状包括腕部尺偏。与I型黏多糖贮积症相关的基因是GALNS(半乳糖胺(N-乙酰)-6-硫酸酶),其相关通路/超级通路包括先天免疫系统和传染病。在该疾病的背景下,已提到的药物包括血管紧张素II和洛沙坦。相关组织包括骨和脊髓,相关表型为步态障碍和短颈。
Related ID:
MESH:D009085
ICD11:2078241550

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
1-9/100000
31
243
64

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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