Immunodeficiency with Hyper-Igm, Type 3 (HIGM3)

Immunodeficiency with Hyper-Igm, Type 3(来自ICD-11)
别称:
Hyper-Igm Syndrome Type 3
Higm3
Hyper-Igm Syndrome Due to Cd40 Deficiency
Immunodeficiency with Hyper Igm Type 3
Hyper-Igm Syndrome 3
Hyper-Igm Immunodeficiency Syndrome, Type 3
Immunodeficiency, with Hyper Igm, Type 3
Type 3 Hyper-Igm Immunodeficiency
Immunodeficiency with Hyper-Igm 3
Hyper-Igm Immunodeficiency Type 3
Cd40 Deficiency
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency with Hyper-Igm, Type 3, also known as hyper-igm syndrome type 3, is related to multiple congenital anomalies-hypotonia-seizures syndrome 3 and cd40 ligand deficiency. An important gene associated with Immunodeficiency with Hyper-Igm, Type 3 is CD40 (CD40 Molecule), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include b cells and t cells, and related phenotypes are immunodeficiency and neutropenia
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
Unknown
--
16
231
9

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