Mucopolysaccharidosis, Type Iiid (MPS3D)

Mucopolysaccharidosis, Type Iiid(来自ICD-11)
别称:
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
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基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
Unknown
1-9/1000000
15
81
20

疾病表征

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表征
HPO概率
Orphanet概率
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基因 & 突变

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靶点药物

药物名称
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临床阶段
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疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
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文献报道

标题
PMID
期刊
年代
IF
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