Alstrom Syndrome (ALMS)

Alstrom Syndrome(来自ICD-11)
别称:
Alström Syndrome
Alms
Alstrom-Hallgren Syndrome
Alstrom's Syndrome
Alstroem Syndrome
Alss
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Alstrom Syndrome, also known as alström syndrome, is related to fundus dystrophy and polydactyly. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1 Centrosome And Basal Body Associated Protein), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. The drugs Liver Extracts and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include liver and eye, and related phenotypes are nystagmus and short stature
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基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
Newborn
1-9/1000000
25
172
138

疾病表征

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表征
HPO概率
Orphanet概率
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基因 & 突变

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靶点药物

药物名称
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研发状态
临床阶段
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疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
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文献报道

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