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:
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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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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No Data Found!
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