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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Palmoplantar Keratoderma and Congenital Alopecia 2 (PPKCA2)
Alias:
Cataract-Alopecia-Sclerodactyly Syndrome
Autosomal Recessive Palmoplantar Hyperkeratosis and Congenital Alopecia
Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia
Palmoplantar Keratoderma and Congenital Alopecia, Wallis Type
Ppk-Ca, Wallis Type
Cataract, Alopecia, Sclerodactyly
Ppkca2
Cass
Ppkca, Wallis Type
Ppkca Wallis Type
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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
掌跖角化病和先天性脱发2,也称为白内障-脱发-硬皮病综合征,与掌跖角化病和先天性脱发1以及脂蛋白定量性状位点有关,其症状包括皮肤干燥。掌跖角化病和先天性脱发2的一个重要基因是LSS(兰尼甾醇合酶)。附属组织包括皮肤和眼睛,相关表型为白内障和关节僵硬。
Related ID:
MALACARDS:PLM149
OMIM:212360
MESH:C535336
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
10
70
3
PLM149
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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