Brain Malformations with or Without Urinary Tract Defects (BRMUTD)

Brain Malformations with or Without Urinary Tract Defects(来自ICD-11)
别称:
Chromosome 1p32-P31 Deletion Syndrome
Nfia-Related Disorder
Chromosome 1, Monosomy 1p32
1p31p32 Microdeletion Syndrome
Brmutd
Nfia Haploinsufficiency
Nfia-Related Disorders
Monosomy 1p31p32
Del(1)(p31p32)
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brain Malformations with or Without Urinary Tract Defects, also known as chromosome 1p32-p31 deletion syndrome, is related to cerebellar dysfunction with variable cognitive and behavioral abnormalities and hydrocephalus, congenital, 1. An important gene associated with Brain Malformations with or Without Urinary Tract Defects is NFIA (Nuclear Factor I A), and among its related pathways/superpathways is RNA Polymerase III Transcription Initiation. Affiliated tissues include brain and spinal cord, and related phenotypes are global developmental delay and ventriculomegaly
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
AD
Newborn
<1/1000000
9
52
20

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