Beckwith-Wiedemann Syndrome (BWS)

Alias:
Exomphalos-Macroglossia-Gigantism Syndrome
Wiedemann-Beckwith Syndrome
Bws
Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation
Emg Abnormality
Emg Syndrome
Beckwith-Wiedemann Syndrome Due to Nsd1 Mutation
Macroglossia Exomphalos Gigantism
Beckwith-Wiedemann Spectrum
Bwsp
Wbs
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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
贝克韦尔-维德曼综合症,也被称为外腹裂-巨舌-巨人症综合症,与肝母细胞瘤和巨舌有关。与贝克韦尔-维德曼综合症有关的重要基因是CDKN1C(细胞周期依赖性激酶抑制剂1C)。在该疾病的背景下提到了乙酰胆碱和长春花碱。附属组织包括肾脏和舌头,相关表型为肿瘤和高身材
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
1-9/100000
105
1168
198

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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