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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
White Sponge Nevus (WSN)
Alias:
Hereditary Mucosal Leukokeratosis
White Sponge Nevus of Cannon
Leukokeratosis, Hereditary Mucosal
Familial White Folded Mucosal Dysplasia
White Folded Gingivostomatosis
Leukokeratosis of Oral Mucosa
White Sponge Nevus of Mucosa
Hereditary Leukokeratosis
Hereditary Oral Keratosis
White Gingivostomatitis
White Sponge Naevus
Cannon's Disease
Nevus of Cannon
Wsn
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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
白海绵痣,又称遗传性黏膜白化病,与白斑病和家族性羊毛状头发综合征有关。与白海绵痣有关的重要基因是KRT4(角蛋白4),其相关通路/超通路包括神经系统发育和COPI独立高尔基体至内质网逆行交通。附属组织包括舌和皮肤,相关表型包括FOXO1核定位和皮肤
Related ID:
MALACARDS:WHT023
MESH:D053529
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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17
68
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WHT023
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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