常染色体显性智力发育障碍19，也称为常染色体显性非综合征性智力障碍19，与神经发育障碍、痉挛性双下肢和视觉缺陷以及渗出性视网膜脉络膜病变7有关。与常染色体显性智力发育障碍19有关的重要基因是MITF（黑色素细胞诱导转录因子），其相关通路/超级通路包括蛋白质代谢和ERK信号通路。相关表型是shRNA丰度增加（Z-score>2）和有丝分裂指数增加。 MRD19 – Autosomal Dominant Intellectual Developmental Disorder 19

疾病英文名：MRD19 – Autosomal Dominant Intellectual Developmental Disorder 19
疾病分类：罕见病 其它疾病 眼科疾病
其他别名：Autosomal Dominant Non-Syndromic Intellectual Disability 19 Autosomal Dominant Mental Retardation 19 Mrd19
疾病简介：常染色体显性智力发育障碍19，也称为常染色体显性非综合征性智力障碍19，与神经发育障碍、痉挛性双下肢和视觉缺陷以及渗出性视网膜脉络膜病变7有关。与常染色体显性智力发育障碍19有关的重要基因是MITF（黑色素细胞诱导转录因子），其相关通路/超级通路包括蛋白质代谢和ERK信号通路。相关表型是shRNA丰度增加（Z-score>2）和有丝分裂指数增加。
遗传模式：该疾病的遗传方式暂未清晰
发病时间：该疾病的发病时间暂不明确
发病率：该疾病的发病率暂未明确
相关基因：MITF CDH17
罹患MRD19 – Autosomal Dominant Intellectual Developmental Disorder 19的每位病患的身体状况和症状表现是有所不同的，即使是同一种疾病的患者也有可能出现截然不同的症状和表现。这种现象需要我们关注不同患者之间的差异因素，并且给予个体化的医疗服务。因此，临床医生需要对患者细节进行仔细且全面的评估，尤其是在病情的确诊和治疗方案的制定方面。在治疗过程中，临床医生往往需要参考最新的医学研究和治疗标准，以量身定制适合每个患者的个性化治疗策略。
发病时间
由于遗传、环境、生活方式等各种因素的影响，不同人在患病症状和发病时间方面会有很大的差异。有些疾病具有明显的症状表现，而其他一些疾病则在疾病进展到晚期前可能并不显示任何症状。此外，不同的疾病因素使得它们的发病年龄也会有很大差异。有些疾病主要影响年轻人，而有些则更常见于老年人。了解疾病的临床表现和发病时间对疾病的诊断和早期干预至关重要。
目前发现该病与MITF，CDH17相关基因
许多疾病的发生与基因突变存在着一定的关联，这些基因突变可能导致人体某些生理机能的失控或功能障碍。基因突变的不同类型，例如单核苷酸多态性（SNP）或拷贝数变异等，可能会引起不同的疾病。多项研究表明，常见疾病（如糖尿病、心脏病和多种癌症等）往往是由多个基因互相作用的结果。了解基因与疾病之间的关系可以促进针对某些疾病的治疗和预防研究。
靶点药物
基因靶点药物是一种用于治疗疾病的新型药物，它的作用是通过调节基因表达或蛋白功能来干预疾病的发生和发展。这些药物通常是通过识别和选择性地作用于靶点蛋白，从而产生治疗效应。基于疾病发生的机制和分子后台，靶点药物可以分为多种类型，例如针对肿瘤抑制剂、肝脏疾病治疗药物、心血管疾病治疗药物等等。
药物名称
CAS号
研发状态
临床阶段
暂无相关数据
疾病模型
小鼠疾病模型是指通过基因编辑等技术将小鼠的基因组进行改变，使其携带某种特定疾病基因或者缺失某种重要基因，从而提供一个研究该疾病发生机制、药物研发和治疗效果等方面的实验平台。小鼠具有与人类相似的生理结构和基因组，能够较好地模拟人类疾病的发生和发展过程，因此成为了研究疾病的理想模型。同时，通过基因编辑技术引入荧光蛋白等标记，也能够实现疾病信号物质的追踪，并揭示其在疾病发生、发展中的作用，为治疗提供新的思路。
相关疾病
Intellectual Developmental Disorder, Autosomal Dominant 1
Intellectual Developmental Disorder, Autosomal Recessive 1
Intellectual Developmental Disorder, Autosomal Recessive 2
Intellectual Developmental Disorder, Autosomal Recessive 3
Intellectual Developmental Disorder, Autosomal Recessive 12
Intellectual Developmental Disorder, Autosomal Recessive 5
Intellectual Developmental Disorder, Autosomal Recessive 6
Intellectual Developmental Disorder, Autosomal Recessive 7
Intellectual Developmental Disorder, Autosomal Recessive 9
Intellectual Developmental Disorder, Autosomal Recessive 10
Intellectual Developmental Disorder, Autosomal Recessive 11
Intellectual Developmental Disorder, Autosomal Recessive 4
Intellectual Developmental Disorder, Autosomal Dominant 22
Intellectual Developmental Disorder, Autosomal Dominant 3
Intellectual Developmental Disorder, Autosomal Dominant 4
Intellectual Developmental Disorder, Autosomal Dominant 5
Intellectual Developmental Disorder, Autosomal Recessive 13
Intellectual Developmental Disorder, Autosomal Recessive 14
Intellectual Developmental Disorder, Autosomal Dominant 7
Intellectual Developmental Disorder, Autosomal Dominant 2
Intellectual Developmental Disorder, Autosomal Recessive 16
Intellectual Developmental Disorder, Autosomal Dominant 10
Intellectual Developmental Disorder, Autosomal Recessive 31
Intellectual Developmental Disorder, Autosomal Recessive 29
Intellectual Developmental Disorder, Autosomal Recessive 27
Intellectual Developmental Disorder, Autosomal Recessive 33
Intellectual Developmental Disorder, Autosomal Recessive 30
Intellectual Developmental Disorder, Autosomal Recessive 19
Intellectual Developmental Disorder, Autosomal Recessive 23
Intellectual Developmental Disorder, Autosomal Recessive 24
Intellectual Developmental Disorder, Autosomal Recessive 25
Intellectual Developmental Disorder, Autosomal Recessive 28
Intellectual Developmental Disorder, Autosomal Dominant 13
Intellectual Developmental Disorder, Autosomal Recessive 35
Intellectual Developmental Disorder, Autosomal Recessive 37
Intellectual Developmental Disorder, Autosomal Dominant 21
Intellectual Developmental Disorder, Autosomal Recessive 38
Intellectual Developmental Disorder, Autosomal Recessive 39
Intellectual Developmental Disorder, Autosomal Recessive 41
Intellectual Developmental Disorder, Autosomal Dominant 23
Intellectual Developmental Disorder, Autosomal Recessive 43
Intellectual Developmental Disorder, Autosomal Dominant 26
Intellectual Developmental Disorder, Autosomal Recessive 44
Intellectual Developmental Disorder, Autosomal Recessive 45
Intellectual Developmental Disorder, Autosomal Dominant 29
Intellectual Developmental Disorder, Autosomal Recessive 46
Intellectual Developmental Disorder, Autosomal Recessive 47
Intellectual Developmental Disorder, Autosomal Recessive 48
Intellectual Developmental Disorder, Autosomal Dominant 33
Intellectual Developmental Disorder, Autosomal Dominant 34
Intellectual Developmental Disorder, Autosomal Dominant 35
Intellectual Developmental Disorder, Autosomal Dominant 36
Intellectual Developmental Disorder, Autosomal Dominant 38
Intellectual Developmental Disorder, Autosomal Recessive 50
Intellectual Developmental Disorder, Autosomal Dominant 39
Intellectual Developmental Disorder, Autosomal Recessive 51
Intellectual Developmental Disorder, Autosomal Recessive 52
Intellectual Developmental Disorder, Autosomal Dominant 41
Intellectual Developmental Disorder, Autosomal Dominant 42
Intellectual Developmental Disorder, Autosomal Dominant 43
Intellectual Developmental Disorder, Autosomal Recessive 54
Intellectual Developmental Disorder, Autosomal Recessive 56
Intellectual Developmental Disorder, Autosomal Recessive 74
Intellectual Developmental Disorder, Autosomal Recessive 57
Intellectual Developmental Disorder, Autosomal Recessive 58
Intellectual Developmental Disorder, Autosomal Recessive 59
Intellectual Developmental Disorder, Autosomal Recessive 60
Intellectual Developmental Disorder, Autosomal Dominant 45
Intellectual Developmental Disorder, Autosomal Dominant 46
Intellectual Developmental Disorder, Autosomal Dominant 47
Intellectual Developmental Disorder, Autosomal Dominant 48
Intellectual Developmental Disorder, Autosomal Recessive 61
Intellectual Developmental Disorder, Autosomal Dominant 51
Intellectual Developmental Disorder, Autosomal Dominant 52
Intellectual Developmental Disorder, Autosomal Dominant 53
Intellectual Developmental Disorder, Autosomal Dominant 54
Intellectual Developmental Disorder, Autosomal Dominant 56
Intellectual Developmental Disorder, Autosomal Dominant 69
Intellectual Developmental Disorder, Autosomal Dominant 61
Intellectual Developmental Disorder, Autosomal Dominant 57
Intellectual Developmental Disorder, Autosomal Recessive 63
Intellectual Developmental Disorder, Autosomal Recessive 64
Intellectual Developmental Disorder, Autosomal Dominant 58
Intellectual Developmental Disorder, Autosomal Recessive 65
Intellectual Developmental Disorder, Autosomal Recessive 66
Intellectual Developmental Disorder, Autosomal Recessive 67
Intellectual Developmental Disorder, Autosomal Recessive 68
Intellectual Developmental Disorder, Autosomal Recessive 69
Intellectual Developmental Disorder, Autosomal Recessive 70
Intellectual Developmental Disorder, Autosomal Recessive 71
Intellectual Developmental Disorder, Autosomal Dominant 59
Intellectual Developmental Disorder, Autosomal Recessive 72
Intellectual Developmental Disorder, Autosomal Dominant 62
Intellectual Developmental Disorder, Autosomal Dominant 64
Intellectual Developmental Disorder, Autosomal Dominant 65
Intellectual Developmental Disorder, Autosomal Recessive 73
Intellectual Developmental Disorder, Autosomal Dominant 66
Intellectual Developmental Disorder, Autosomal Dominant 67
Intellectual Developmental Disorder, Autosomal Recessive 76
Intellectual Developmental Disorder, Autosomal Dominant 68
Intellectual Developmental Disorder, Autosomal Recessive 77
Intellectual Developmental Disorder, Autosomal Dominant 70
Intellectual Developmental Disorder, Autosomal Recessive 78
Autosomal Recessive Intellectual Developmental Disorder
Autosomal Dominant Intellectual Developmental Disorder 6
Autosomal Dominant Intellectual Developmental Disorder 8
Autosomal Dominant Intellectual Developmental Disorder 31
Autosomal Dominant Intellectual Developmental Disorder 40
Autosomal Recessive Intellectual Developmental Disorder 34
Autosomal Recessive Intellectual Developmental Disorder 75
疾病数据库：MALACARD ATS526