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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
Hypophosphatemic Rickets, Autosomal Dominant (ADHR)
Alias:
Autosomal Dominant Hypophosphatemic Rickets
Adhr
Autosomal Dominant Hypophosphatemia
Vitamin D-Resistant Rickets, Autosomal Dominant
Autosomal Dominant Vitamin D-Resistant Rickets
Rickets, Hypophosphatemic, Autosomal Dominant
Hypophosphatemia, Autosomal Dominant
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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,常染色体显性型,也称为常染色体显性低磷酸盐性佝偻病,与继发性甲状旁腺功能亢进和甲状旁腺功能亢进有关。与低磷酸盐性佝偻病,常染色体显性型相关的基因是FGF23(成纤维细胞生长因子23),其相关通路/超通路包括胰岛素样生长因子(IGF)通过胰岛素样生长因子结合蛋白(IGFBPs)的运输和摄取的调节以及FGFR2的信号传导。在该疾病的背景下,已提到过葡萄糖酸亚铁和铁。附属组织包括骨和肾,相关表型为低磷酸血症和高磷尿症。
Related ID:
MALACARDS:HYP260
OMIM:193100
MESH:D012279
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
婴儿期
<1/1000000
14
120
36
HYP260
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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