Arthrogryposis Multiplex Congenita 3, Myogenic Type (AMC3)

Arthrogryposis Multiplex Congenita 3, Myogenic Type(来自ICD-11)
别称:
Arthrogryposis Multiplex Congenita, Myogenic Type
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Amc3
Amcm
Syne1-Related Arthrogryposis Multiplex Congenita
Autosomal Recessive Myogenic Amc
Syne1-Related Amc
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Arthrogryposis Multiplex Congenita 3, Myogenic Type, also known as arthrogryposis multiplex congenita, myogenic type, is related to rheumatoid arthritis and keratitis, hereditary. An important gene associated with Arthrogryposis Multiplex Congenita 3, Myogenic Type is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1). Affiliated tissues include skeletal muscle and lung, and related phenotypes are motor delay and decreased fetal movement
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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
Newborn
<1/1000000
2
55
6

疾病表征

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基因 & 突变

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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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文献报道

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