Sotos Syndrome (SOTOS)

Alias:
Cerebral Gigantism
Chromosome 5q35 Deletion Syndrome
Sotos
Sotos Syndrome 1, Formerly
Sotos Syndrome, Type 1
Sotos1, Formerly
Sotos Syndrome 1
Sotos' Syndrome
Sotos Sequence
Sotos1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sotos Syndrome, also known as cerebral gigantism, is related to sotos syndrome 2 and sotos syndrome 3, and has symptoms including seizures An important gene associated with Sotos Syndrome is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways/superpathways are Pleural mesothelioma and Myometrial relaxation and contraction pathways. Affiliated tissues include bone and eye, and related phenotypes are coarse facial features and tall stature
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Antenatal
1-9/1000000
64
578
107

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
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