Gapo Syndrome (GAPOS)

Gapo Syndrome(来自ICD-11)
别称:
Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome
Growth Retardation, Alopecia, Pseudoanodontia, and Optic Atrophy
Gapos
Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gapo Syndrome, also known as growth delay-alopecia-pseudoanodontia-optic atrophy syndrome, is related to anodontia and anthrax disease. An important gene associated with Gapo Syndrome is ANTXR1 (ANTXR Cell Adhesion Molecule 1). Affiliated tissues include skin and eye, and related phenotypes are frontal bossing and delayed skeletal maturation
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基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
AR
Newborn
<1/1000000
13
78
16

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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