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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
Aplasia of Lacrimal and Salivary Glands (ALSG)
Alias:
Alsg
Congenital Absence of Lacrimal Puncta and Salivary Glands
Xerostomia
Congenital Absence of Lacrimal Puncta or Salivary Glands
Alsg - [aplasia of Lacrimal or Salivary Glands]
Congenital Absence of Salivary Gland
Parotid Aplasia or Hypoplasia
Absence of Salivary Glands
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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
泪腺和唾液腺发育不全,又称 ALSG,与干眼症和唾液腺炎有关,症状包括口臭、体征和症状、消化和打鼾。与泪腺和唾液腺发育不全有关的重要基因是 FGF10(成纤维细胞生长因子10),其相关通路/超级通路包括发育FGFR信号通路和调节肌动蛋白细胞骨架。在该疾病的背景下提到了药物Cevimeline和Sodium fluoride。附属组织包括唾液腺和眼睛,相关表型包括蛀牙和口干。
Related ID:
MALACARDS:APL002
OMIM:180920
MESH:C562407
ICD11:1810717437
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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13
161
13
APL002
Medical Symptom
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Categorization
Description
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Orphanet Frequency
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No data available
Gene & Mutation
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No data available
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No data available
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Category
Name
MGI
Related Gene
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References Literature
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