Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome (LICS)

Alias:
Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome;
Lics
Lung Disease, Immunodeficiency, Chromosome Breakage 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
肺病、免疫缺陷和染色体断裂综合症,也称为LICS,与肾细胞癌、乳头状瘤1型和过敏性疾病有关。与肺病、免疫缺陷和染色体断裂综合症有关的重要基因是NSMCE3(SMC5-SMC6复合物成分的NSE3同源物),其相关通路/超级通路包括15q11q13拷贝数变异。附属组织包括肺和T细胞,相关表型包括脑钙化和婴儿期发育不良。
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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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1
4
1

Medical Symptom

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

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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