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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
Primary Hypertrophic Osteoarthropathy (PDP)
Alias:
Pachydermoperiostosis
Osteoarthropathy, Primary Hypertrophic
Touraine-Solente-Gole Syndrome
Pdp
Idiopathic Hypertrophic Osteoarthropathy
Pachydermoperiostosis Syndrome
Pachydermoperiostosis of Nail
Pho
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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
原发性肥大性骨关节病,又称厚皮性骨关节病,与肥大性骨关节病、常染色体隐性遗传型1型和继发性肥大性骨关节病有关,症状包括关节痛、潮红和跖痛。与原发性肥大性骨关节病有关的重要基因是HPGD(15-羟基前列腺素脱氢酶),其相关通路/超级通路包括脂肪酸代谢和β-2肾上腺素依赖性CFTR表达。在该疾病的背景下,已提到的药物有埃托昔布和麻醉药。相关组织包括骨和皮肤,相关表型为多汗症和异常皮质骨形态。
Related ID:
MALACARDS:PRM018
MESH:D010004
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
--
14
85
--
PRM018
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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