Fructosuria, Essential (FRUCT)

Alias:
Essential Fructosuria
Ketohexokinase Deficiency
Fructosuria
Hepatic Fructokinase Deficiency
Fructokinase Deficiency
Deficiency of Fructokinase
Fruct
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
果糖尿症,必需,又称必需果糖尿症,与果糖不耐受、遗传性和低血糖症有关。与必需果糖尿症相关的基因是KHK(酮戊二酮激酶),其相关通路/超级通路包括代谢和糖胺聚糖代谢。附属组织包括肝脏,相关表型包括果糖代谢障碍和异常循环酶浓度或活性。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
--
11
66
5

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!
微信
信息比对
科研助手
使用教程
回到顶部