Hypophosphatemic Rickets, X-Linked Recessive (XLRHR)

Alias:
Hypophosphatemic Rickets
X-Linked Recessive Hypophosphatemic Rickets
Rickets, Hypophosphatemic, X-Linked Recessive
Hypophosphatemic Rickets Disorders
Familial Hypophosphatemic Rickets
Rickets Hypophosphatemic
Xlrhr
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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
低磷酸盐性佝偻病,X连锁隐性型,也称为低磷酸盐性佝偻病,与低磷酸盐性佝偻病,常染色体显性型和牙病1有关。与低磷酸盐性佝偻病,X连锁隐性型有关的重要基因是CLCN5(氯离子电压门控通道5),其相关通路/超通路包括维生素D受体通路和1,25二羟维生素D3的非基因组作用。在该疾病的背景下提到了胆骨化醇和单克隆抗体。附属组织包括骨和肾,相关表型为矮小和低磷酸血症。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
X染色体
X显
常隐
X隐
全年龄段
--
25
189
7

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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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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