Degcags Syndrome (DEGCAGS)

Alias:
Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities
Degcags
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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
发育延迟伴有胃肠道、心血管、泌尿生殖道和骨骼异常(发育延迟伴有胃肠心血管泌尿生殖道和骨骼异常,英文缩写为DEGCAGS),与酒精依赖和肌张力低下有关。与DEGCAGS综合征相关的重要基因是ZNF699(锌指蛋白699)。相关组织包括舌和脾,相关表型为面部异常和智力障碍。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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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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