Mucopolysaccharidosis Iv (MPS4)

Mucopolysaccharidosis Iv(来自ICD-11)
别称:
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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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mucopolysaccharidosis Iv, also known as morquio syndrome, is related to osteochondrodysplasia and dyggve-melchior-clausen disease, and has symptoms including ulnar deviation of the wrist An important gene associated with Mucopolysaccharidosis Iv is GALNS (Galactosamine (N-Acetyl)-6-Sulfatase), and among its related pathways/superpathways are Innate Immune System and Infectious disease. The drugs Angiotensin II and Losartan have been mentioned in the context of this disorder. Affiliated tissues include bone and spinal cord, and related phenotypes are gait disturbance and short neck
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相关ID:
MESH:D009085
ICD11:2078241550

基础信息

遗传方式
发病时间
患病率/发病率
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相关模型
参考文献
MALACARDS
AR
Infant
1-9/100000
31
243
64

疾病表征

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靶点药物

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临床阶段
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疾病模型

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MGI
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