Robin Sequence with Cleft Mandible and Limb Anomalies (RCPS)

Alias:
Richieri Costa-Pereira Syndrome
Short Stature-Pierre Robin Sequence-Cleft Mandible-Hand Anomalies Clubfoot Syndrome
Short Stature-Pierre Robin Syndrome-Cleft Mandible-Hand Anomalies Clubfoot Syndrome
Richieri-Costa-Pereira Syndrome
Richieri Costa Pereira Syndrome
Rcps
Richieri-Costa and Pereira Syndrome
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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
罗宾序列伴有裂颌和肢体异常,也称为里奇里科斯塔佩雷拉综合症,与acrofacial dysostosis和dysostosis有关。罗宾序列伴有裂颌和肢体异常的一个重要基因是EIF4A3(真核翻译起始因子4A3)。相关组织包括骨和扣带回,相关表型为髋关节脱位和髋关节半脱位。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
3
12

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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