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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
Pseudoxanthoma Elasticum (PXE)
Alias:
Pxe
Gronblad-Strandberg Syndrome
Gronblad-Strandberg-Touraine Syndrome
Pseudoxanthoma Elasticum, Modifier of Severity of
Pxe - [pseudoxanthoma Elasticum]
Groenblad-Strandberg Syndrome
Nevus Elasticus
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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
假黄瘤弹性病,又称 Pxe,与婴儿动脉钙化和血管样条纹有关,症状包括心绞痛。与假黄瘤弹性病有关的重要基因是 ABCC6(ATP 结合盒 C 亚家族成员 6),其相关通路/超级通路包括葡萄糖/能量代谢和软骨内骨化与骨骼发育不良。在该疾病的背景下提到了药物 Dexlansoprazole 和 Lansoprazole。附属组织包括皮肤和眼睛,相关表型为视网膜病变和颈部皮肤皱褶增厚。
Related ID:
MALACARDS:PSD087
OMIM:264800
MESH:D011561
ICD11:1516160852
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
1-9/100000
42
326
118
PSD087
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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