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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
Multicentric Carpotarsal Osteolysis Syndrome (MCTO)
Alias:
Multicentric Carpo-Tarsal Osteolysis with or Without Nephropathy
Osteolysis, Hereditary, of Carpal Bones with or Without Nephropathy
Mcto
Hereditary Osteolysis of Carpal Bones with or Without Nephropathy
Idiopathic Multicentric Osteolysis with or Without Nephropathy
Autosomal Dominant Multicentric Osteolysis
Multicentric Osteolysis Nephropathy
Osteolysis, Carpotarsal, Multicentric Syndrome
Multicentric Osteolysis, Autosomal Dominant
Lytic Lesion
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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
多中心性腕踝骨溶解症,又称为伴有或不伴有肾病的多中心性腕踝骨溶解症,与关节炎和骨软骨发育不良有关,症状包括手腕疼痛和脚踝疼痛。与多中心性腕踝骨溶解症有关的重要基因是MAFB(MAF BZIP转录因子B),其相关通路/超级通路包括维生素D受体通路和他克莫司/环孢素通路,药理学。附属组织包括骨和肾,相关表型为步态障碍和蛋白尿。
Related ID:
MALACARDS:MLT092
OMIM:166300
MESH:C567171
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
--
12
113
23
MLT092
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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