Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant (ADCADN)

Alias:
Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Adca-Dn Syndrome
Adcadn
Autosomal Dominant Cerebellar Ataxia-Hearing Loss-Narcolepsy Syndrome
Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy
Ataxia, Cerebellar, Deafness, and Narcolepsy, Autosomal Dominant
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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
Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant(常染色体显性遗传性小脑性共济失调、耳聋和嗜睡症),也被称为常染色体显性遗传性小脑性共济失调、耳聋和嗜睡症,与神经病、遗传性感觉性、类型ie和挛缩、翼状胬肉和脊柱、足部和跖骨融合综合征1a有关,其症状包括小脑共济失调、肌肉痉挛和过度日间嗜睡。与Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant相关的基因是DNMT1(DNA甲基转移酶1),其相关通路/超级通路包括染色质调节/乙酰化和一碳代谢及相关通路。相关组织包括脑和眼,相关表型为感音神经性听力损失和嗜睡症。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
<1/1000000
14
190
5

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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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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IF
No Data Found!
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