Hypertelorism

About the Disease
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 Signaling by Receptor Tyrosine Kinases and Burn wound healing. The drugs Simvastatin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and bone, and related phenotypes are hypertelorism and embryo

Common Targets
RICTOR | MID1 | ACTG1 | SPECC1L

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