Rothmund-Thomson Syndrome, Type 1 (RTS1)

Alias:
Rts1
Poikiloderma Atrophicans and Cataract
Rothmund-Thomson Syndrome Type 1
Poikiloderma of Rothmund-Thomson Type 1
Rothmund-Thomson Syndrome 1
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Rothmund-Thomson Syndrome, Type 1, also known as rts1, is related to rothmund-thomson syndrome, type 2 and cataract. An important gene associated with Rothmund-Thomson Syndrome, Type 1 is ANAPC1 (Anaphase Promoting Complex Subunit 1). Affiliated tissues include skin and eye, and related phenotypes are poikiloderma and juvenile cataract
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
3
2

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