Turner Syndrome (TS)

Alias:
Monosomy X
Gonadal Dysgenesis Turner Type
Bonnevie-Ullrich Syndrome
Ullrich-Turner Syndrome
45,x/46,xx Syndrome
Turner's Syndrome
Karyotype 45, X
45,x Syndrome
Gonadal Dysgenesis - Turner
Gonadal Dysgenesis, 45,x
Monosomy X Syndrome
Gonadal Dysgenesis
Turners Syndrome
Xo Syndrome
X0 Syndrome
45,x
Ts
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Turner Syndrome, also known as monosomy x, is related to noonan syndrome 1 and gonadal dysgenesis. An important gene associated with Turner Syndrome is SHOX (SHOX Homeobox), and among its related pathways/superpathways are Metabolism of proteins and PI3K-Akt signaling pathway. The drugs Tranexamic acid and Cilostazol have been mentioned in the context of this disorder. Affiliated tissues include skin and heart, and related phenotypes are short neck and osteopenia
Related ID:
MESH:D014424
ICD11:1987089698

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Antenatal
1-5/10000
35
304
3

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!
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