Ichthyosis, Lamellar, Autosomal Dominant (ADLI)

Alias:
Lamellar Ichthyosis, Autosomal Dominant
Autosomal Dominant Lamellar Ichthyosis
Adli
Ichthyosis Lamellar, 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
鱼鳞病,板层,常染色体显性,也称为板层鱼鳞病,常染色体显性,与挛缩、翼状胬肉和脊柱-掌跖-踝关节融合综合征1a和常染色体隐性先天性鱼鳞病有关。与鱼鳞病,板层,常染色体显性相关的基因是ASPRV1(Aspartic Peptidase Retroviral Like 1)。相关组织包括皮肤和肝脏,相关表型为角化过度和瘙痒。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
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7

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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