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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
Amyloidosis, Primary Localized Cutaneous, 3 (PLCA3)
Alias:
Amyloidosis Cutis Dyschromica
Primary Localized Cutaneous Amyloidosis 3
Plca3
Acd
Amyloidosis Cutis Dyschromia
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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
原发性局限性皮肤淀粉样变性3(Amyloidosis, Primary Localized Cutaneous, 3),又称色素失调性皮肤淀粉样变性,与淀粉样变性和原发性皮肤淀粉样变性有关。与原发性局限性皮肤淀粉样变性3相关的基因是GPNMB(Glycoprotein Nmb),其相关通路/超级通路包括白介素-6家族信号通路。相关组织包括皮肤和结肠,相关表型为皮肤干燥和全身性色素沉着。
Related ID:
MALACARDS:AMY111
OMIM:617920
MESH:D028226
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
<1/1000000
8
46
3
AMY111
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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