Rothmund-Thomson Syndrome, Type 2 (RTS2)

Alias:
Rothmund-Thomson Syndrome
Rts
Poikiloderma of Rothmund-Thomson
Rothmund-Thomson Syndrome Type 2
Rts2
Congenital Poikiloderma
Poikiloderma Congenitale of Rothmund-Thomson
Poikiloderma of Rothmund-Thomson Type 2
Poikiloderma Atrophicans and Cataract
Erythrokeratodermia Variabilis
Rothmund-Thomson Syndrome 2
Poikiloderma Congenitale
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Rothmund-Thomson Syndrome, Type 2,又称 Rothmund-Thomson 综合征,与 poikiloderma with neutropenia 和 rapadilino 综合征有关,症状包括皮疹。与 Rothmund-Thomson Syndrome, Type 2 有关的重要基因是 RECQL4 (RecQ Like Helicase 4),其相关通路/超通路包括基因表达(转录)和传染病。在该疾病的背景下提到了药物 Orange 和荷尔蒙。相关组织包括皮肤和骨,相关表型为红斑和皮疹。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
33
335
66

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
Year
IF
No Data Found!
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