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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
非罕见病
Lactose Intolerance
Alias:
Lactose Malabsorption
Intolerance or Malabsorption of Lactose
Lm - [lactose Malabsorption]
Lm - Lactose Malabsorption
Milk Sugar Intolerance
Cow Milk Enteropathy
Milk Intolerance
Hypolactasia
Alactasia
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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
乳糖不耐受,又称乳糖吸收不良,与乳糖不耐受、成人型和乳糖酶缺乏、先天性有关,症状包括腹痛、便秘和腹泻。与乳糖不耐受有关的重要基因是LCT(乳糖酶),其相关通路/超级通路包括消化和吸收以及碳水化合物代谢疾病。在该疾病的背景下提到了酪蛋白和山梨醇。相关组织包括小肠和乳腺,相关表型为乳腺囊泡形成减少和内分泌/外分泌腺。
Related ID:
MALACARDS:LCT002
MESH:D007787
ICD11:1026224967
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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22
184
3
LCT002
Medical Symptom
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Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
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Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
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IF
No Data Found!
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