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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Lubani-Al Saleh-Teebi Syndrome
Alias:
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Lubani Al Saleh Teebi Syndrome
Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation
Cystic Fibrosis Gastritis Megaloblastic Anemia
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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
Lubani-Al Saleh-Teebi 综合症,又称囊性纤维化-胃炎-巨幼红细胞性贫血症,与囊性纤维化、幽门螺旋杆菌胃炎、巨幼红细胞性贫血和智力障碍有关。与Lubani-Al Saleh-Teebi 综合症有关的重要基因是POLE(DNA聚合酶ε催化亚基)。附属组织包括眼睛,相关表型为智力障碍和前额突出
Related ID:
MALACARDS:LBN005
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
<1/1000000
1
8
6
LBN005
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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