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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
Cutaneous Telangiectasia and Cancer Syndrome, Familial (FCTCS)
Alias:
Familial Cutaneous Telangiectasia and Oropharyngeal Predisposition Cancer Syndrome
Telangiectasia, Cutaneous, and Cancer Syndrome, Familial
Fctcs
Familial Cutaneous Telangiectasia and Oropharyngeal Cancer Predisposition Syndrome
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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
皮肤毛细血管扩张症和癌症综合征,家族性,也被称为家族性皮肤毛细血管扩张症和口腔癌易感综合征。与家族性皮肤毛细血管扩张症和癌症综合征有关的重要基因是ATR(ATR丝氨酸/苏氨酸激酶)。附属组织包括皮肤和乳腺,相关表型为毛细血管扩张症和面部毛细血管扩张症。
Related ID:
MALACARDS:CTN028
OMIM:614564
MESH:D009386
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
1
11
1
CTN028
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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