Sulfite Oxidase Deficiency, Isolated (ISOD)

Sulfite Oxidase Deficiency, Isolated(来自ICD-11)
别称:
Sulfocysteinuria
Sulfite Oxidase Deficiency
Isolated Sulfite Oxidase Deficiency
Isod
Encephalopathy Due to Sulfite Oxidase Deficiency
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sulfite Oxidase Deficiency, Isolated, also known as sulfocysteinuria, is related to molybdenum cofactor deficiency, complementation group c and molybdenum cofactor deficiency, complementation group b, and has symptoms including ataxia and seizures. An important gene associated with Sulfite Oxidase Deficiency, Isolated is SUOX (Sulfite Oxidase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drug Molybdenum has been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are seizure and spasticity
查看原文 参与反馈
相关ID:

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AR
Antenatal
<1/1000000
11
40
49

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top