Hypertelorism

Alias:
Orbital Separation Excessive
Hypertelorism of Orbit
Ocular Hypertelorism
Eyes Wide Apart
Eyes Widely Set
Favorite
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
43
760
7

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top