Yunis-Varon Syndrome (YVS)

Yunis-Varon Syndrome(来自ICD-11)
别称:
Cleidocranial Dysplasia with Micrognathia, Absent Thumbs, and Distal Aphalangia
Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
Yunis Varon Syndrome
Yvs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Yunis-Varon Syndrome, also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia, is related to tooth disease and charcot-marie-tooth disease. An important gene associated with Yunis-Varon Syndrome is FIG4 (FIG4 Phosphoinositide 5-Phosphatase), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and PI Metabolism. Affiliated tissues include bone and heart, and related phenotypes are aplasia of the distal phalanges of the hand and aplasia of the distal phalanx of the hallux
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相关ID:
MESH:C536719
ICD11:1696991249

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
25
170
14

疾病表征

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表征
HPO概率
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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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名称
MGI
相关基因
品系来源
文献数量
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文献报道

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