Porphyria, Congenital Erythropoietic (CEP)

Porphyria, Congenital Erythropoietic(来自ICD-11)
别称:
Congenital Erythropoietic Porphyria
Gunther Disease
Cep
Günther Disease
Deficiency of Uroporphyrinogen Iii Synthase
Uroporphyrinogen Iii Synthase Deficiency
Porphyria, Erythropoietic, Congenital
Porphyria, Erythropoietic
Cutaneous Porphyria
Uros Deficiency
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Porphyria, Congenital Erythropoietic, also known as congenital erythropoietic porphyria, is related to porphyria, acute intermittent and photoparoxysmal response 1. An important gene associated with Porphyria, Congenital Erythropoietic is UROS (Uroporphyrinogen III Synthase), and among its related pathways/superpathways are Metabolism and Hemesynthesis defects and porphyrias. The drugs Deferasirox and Iron have been mentioned in the context of this disorder. Affiliated tissues include skin and bone marrow, and related phenotypes are abnormal blistering of the skin and fragile skin
查看原文 参与反馈

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
All ages
<1/1000000
7
60
84

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