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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
Capillary Lymphangioma
Alias:
Microcystic Infiltrating Lymphatic Malformation
Microcystic Lymphatic Malformation
Capillary Lymphatic Malformation
Microcystic Lymphangioma
Superficial Lymphangioma
Cutaneous Lymphangioma Circumscriptum
Superficial Lymphatic Malformation
Lymphangioma Circumscriptum
Cutaneous Lymphangioma
Lymphangioma of Skin
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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
毛细淋巴管瘤,又名微囊性浸润性淋巴管畸形,与动静脉畸形和皮肤纤维组织细胞瘤有关。与毛细淋巴管瘤有关的重要基因是PECAM1(血小板和内皮细胞粘附分子1),其相关通路/超通路包括血管生成(CST)。在该疾病的背景下提到了药物雷帕霉素和西罗莫司。附属组织包括皮肤和舌,相关表型为肌肉和消化/消化道。
Related ID:
MALACARDS:CPL002
ICD11:1796778763
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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新生儿
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6
61
--
CPL002
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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