Dyskeratosis Congenita, Autosomal Dominant 6 (DKCA6)

Dyskeratosis Congenita, Autosomal Dominant 6(来自ICD-11)
别称:
Dyskeratosis Congenita, Autosomal Recessive 7
Dkca6
Dyskeratosis Congenita, Autosomal Recessive, 7
Dyskeratosis Congenita, Autosomal Dominant, 6
Autosomal Dominant Dyskeratosis Congenita 6
Hereditary Isolated Aplastic Anemia
Dyskeratosis Congenita
Dkcb7
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dyskeratosis Congenita, Autosomal Dominant 6, also known as dyskeratosis congenita, autosomal recessive 7, is related to dyskeratosis congenita and pancytopenia. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 6 is ACD (ACD Shelterin Complex Subunit And Telomerase Recruitment Factor), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Hematopoietic Stem Cells and Lineage-specific Markers. The drugs Fludarabine and Alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are abnormality of the dentition and short telomere length
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
AD
Child
--
3
22
4

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