Hypertelorism

Hypertelorism(来自ICD-11)
别称:
Orbital Separation Excessive
Hypertelorism of Orbit
Ocular Hypertelorism
Eyes Wide Apart
Eyes Widely Set
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypertelorism, also known as orbital separation excessive, is related to craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 and noonan syndrome 1. An important gene associated with Hypertelorism is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways/superpathways are Tyrosine Kinases / Adaptors and Burn wound healing. The drugs Benzocaine and Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include eye and heart, and related phenotypes are growth/size/body region and embryo
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基础信息

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参考文献
MALACARDS
AD
Unknown
--
43
760
7

疾病表征

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靶点药物

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临床阶段
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MGI
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