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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
Vohwinkel Syndrome, Variant Form (VSI)
Alias:
Vohwinkel Syndrome with Ichthyosis
Loricrin Keratoderma
Mutilating Keratoderma with Ichthyosis
Camisa Disease
Keratoderma-Ichthyosiform Dermatosis-Elevated Beta-Glucuronidase Syndrome
Keratoderma Hereditarium Mutilans with Ichthyosis
Vohwinkel Syndrome Variant Form
Vsi
Lk
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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
沃辛克尔综合症,变异型,又称沃辛克尔综合症伴鱼鳞病,与皮肤病和红斑角化病有关。沃辛克尔综合症,变异型相关的重要基因是LORICRIN(角质化表皮前体蛋白)。相关组织包括皮肤和内皮,相关表型为掌跖角化过度和泛发性鱼鳞病。
Related ID:
MALACARDS:VHW003
OMIM:604117
MESH:D007057
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
1
4
10
VHW003
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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