Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion

Alias:
Colorectal Adenomatous Polyposis Due to Monosomy 5q22.2
Familial Adenomatous Polyposis Due to Monosomy 5q22.2
Familial Adenomatous Polyposis Due to Del(5)(q22.2)
Familial Polyposis Coli Due to Monosomy 5q22.2
Fap Due to Monosomy 5q22.2
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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
5q22.2微缺失导致的家族性腺瘤性息肉病,也被称为5q22.2单体型导致的结直肠腺瘤性息肉病。与5q22.2微缺失导致的家族性腺瘤性息肉病相关的基因是APC(APC调节WNT信号通路)。相关组织包括结肠和肾脏,相关表型为腺瘤性结肠息肉和高腭。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
33
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Medical Symptom

#
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

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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