Sjogren-Larsson Syndrome (SLS)

Sjogren Larsson综合征(来自ICD-11)
别称:
Sjögren-Larsson Syndrome
Fatty Acid Alcohol Oxidoreductase Deficiency
Sls
Faldh Deficiency
Fatty Aldehyde Dehydrogenase Deficiency
Congenital Icthyosis Mental Retardation Spasticity Syndrome
Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia
Fatty Alcohol:nad+ Oxidoreductase Deficiency
Ichthyosis Oligophrenia Syndrome
Sjogren-Larsson's Syndrome
Sjoegren-Larsson Syndrome
Sjogren Larsson Syndrome
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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
Sjogren-Larsson Syndrome, also known as sjögren-larsson syndrome, is related to spastic cerebral palsy and paraplegia, and has symptoms including muscle spasticity, seizures and photophobia. An important gene associated with Sjogren-Larsson Syndrome is ALDH3A2 (Aldehyde Dehydrogenase 3 Family Member A2), and among its related pathways/superpathways are Metabolism and Cyclophosphamide Pathway, Pharmacodynamics. Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and spasticity.
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相关ID:
MESH:D016111
ICD11:418359090

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
常隐
新生儿
1-9/1000000
17
113
71

疾病表征

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靶点药物

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疾病模型

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MGI
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