先天性聋, 常染色体显性40，也被称为dfna40，与先天性聋, 常染色体隐性89和先天性聋, 常染色体隐性91有关。与先天性聋, 常染色体显性40有关的重要基因是CRYM（晶状体μ）。相关组织包括大脑，相关表型是感音神经性听力障碍。 DFNA40 – Deafness, Autosomal Dominant 40

疾病英文名：DFNA40 – Deafness, Autosomal Dominant 40
疾病分类：罕见病 心血管疾病 其它疾病
其他别名：Dfna40 Autosomal Dominant Nonsyndromic Deafness 40 Deafness, Autosomal Dominant, Type 40 Deafness, Autosomal Dominant, 40 Autosomal Dominant Deafness 40
疾病简介：先天性聋, 常染色体显性40，也被称为dfna40，与先天性聋, 常染色体隐性89和先天性聋, 常染色体隐性91有关。与先天性聋, 常染色体显性40有关的重要基因是CRYM（晶状体μ）。相关组织包括大脑，相关表型是感音神经性听力障碍。
遗传模式：常染色体显性遗传
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：CRYM THAP7
罹患DFNA40 – Deafness, Autosomal Dominant 40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CRYM，THAP7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
Deafness, Autosomal Recessive 1a
Deafness, Autosomal Recessive 2
Deafness, Autosomal Dominant 2a
Deafness, Autosomal Recessive 3
Deafness, Autosomal Dominant 4a
Deafness, Autosomal Recessive 5
Deafness, Autosomal Dominant 6
Deafness, Autosomal Recessive 6
Deafness, Autosomal Recessive 7
Deafness, Autosomal Dominant 5
Deafness, Autosomal Recessive 9
Deafness, Autosomal Recessive 8
Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 11
Deafness, Autosomal Dominant 9
Deafness, Autosomal Recessive 12
Deafness, Autosomal Dominant 7
Deafness, Autosomal Dominant 12
Deafness, Autosomal Dominant 3a
Deafness, Autosomal Dominant 13
Deafness, Autosomal Recessive 15
Deafness, Autosomal Recessive 18a
Deafness, Autosomal Dominant 15
Deafness, Autosomal Recessive 17
Deafness, Autosomal Recessive 13
Deafness, Autosomal Dominant 17
Deafness, Autosomal Recessive 21
Deafness, Autosomal Recessive 14
Deafness, Autosomal Recessive 16
Deafness, Autosomal Dominant 16
Deafness, Autosomal Recessive 20
Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 23
Deafness, Autosomal Recessive 26
Deafness, Autosomal Dominant 25
Deafness, Autosomal Recessive 27
Deafness, Autosomal Dominant 18
Deafness, Autosomal Dominant 24
Deafness, Autosomal Dominant 22
Deafness, Autosomal Dominant 30
Deafness, Autosomal Dominant 36
Deafness, Autosomal Dominant 21
Deafness, Autosomal Recessive 22
Deafness, Autosomal Recessive 31
Deafness, Autosomal Recessive 30
Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 33
Deafness, Autosomal Dominant 44
Deafness, Autosomal Dominant 52
Deafness, Autosomal Recessive 37
Deafness, Autosomal Dominant 48
Deafness, Autosomal Recessive 38
Deafness, Autosomal Dominant 41
Deafness, Autosomal Recessive 40
Deafness, Autosomal Recessive 39
Deafness, Autosomal Dominant 49
Deafness, Autosomal Dominant 43
Deafness, Autosomal Recessive 35
Deafness, Autosomal Dominant 28
Deafness, Autosomal Dominant 31
Deafness, Autosomal Dominant 47
Deafness, Autosomal Recessive 48
Deafness, Autosomal Recessive 23
Deafness, Autosomal Recessive 42
Deafness, Autosomal Recessive 46
Deafness, Autosomal Recessive 53
Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 51
Deafness, Autosomal Recessive 47
Deafness, Autosomal Recessive 55
Deafness, Autosomal Dominant 53
Deafness, Autosomal Recessive 62
Deafness, Autosomal Recessive 49
Deafness, Autosomal Recessive 44
Deafness, Autosomal Recessive 66
Deafness, Autosomal Recessive 59
Deafness, Autosomal Recessive 65
Deafness, Autosomal Recessive 67
Deafness, Autosomal Recessive 68
Deafness, Autosomal Recessive 24
Deafness, Autosomal Recessive 63
Deafness, Autosomal Dominant 27
Deafness, Autosomal Recessive 45
Deafness, Autosomal Dominant 59
Deafness, Autosomal Dominant 3b
Deafness, Autosomal Dominant 2b
Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 71
Deafness, Autosomal Dominant 50
Deafness, Autosomal Recessive 77
Deafness, Autosomal Recessive 25
Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 84a
Deafness, Autosomal Recessive 85
Deafness, Autosomal Recessive 91
Deafness, Autosomal Dominant 51
Deafness, Autosomal Recessive 83
Deafness, Autosomal Recessive 74
Deafness, Autosomal Recessive 61
Deafness, Autosomal Recessive 89
Deafness, Autosomal Recessive 29
Deafness, Autosomal Dominant 64
Deafness, Autosomal Dominant 33
Deafness, Autosomal Recessive 96
Deafness, Autosomal Dominant 4b
Deafness, Autosomal Recessive 86
Deafness, Autosomal Recessive 98
Deafness, Autosomal Recessive 93
Deafness, Autosomal Recessive 84b
Deafness, Autosomal Recessive 18b
Deafness, Autosomal Recessive 88
Deafness, Autosomal Recessive 76
Deafness, Autosomal Dominant 56
Deafness, Autosomal Dominant 54
Deafness, Autosomal Dominant 58
Deafness, Autosomal Recessive 101
Deafness, Autosomal Recessive 102
Deafness, Autosomal Recessive 103
Deafness, Autosomal Dominant 65
Deafness, Autosomal Dominant 67
Deafness, Autosomal Recessive 104
Deafness, Autosomal Dominant 69
Deafness, Autosomal Recessive 97
Deafness, Autosomal Dominant 68
Deafness, Autosomal Dominant 70
Deafness, Autosomal Dominant 66
Deafness, Autosomal Dominant 71
Deafness, Autosomal Dominant 72
Deafness, Autosomal Recessive 106
Deafness, Autosomal Recessive 107
Deafness, Autosomal Recessive 108
Deafness, Autosomal Dominant 73
Deafness, Autosomal Recessive 57
Deafness, Autosomal Recessive 109
Deafness, Autosomal Recessive 110
Deafness, Autosomal Dominant 74
Deafness, Autosomal Recessive 111
Deafness, Autosomal Recessive 112
Deafness, Autosomal Recessive 113
Deafness, Autosomal Recessive 100
Deafness, Autosomal Recessive 94
Deafness, Autosomal Recessive 114
Deafness, Autosomal Recessive 115
Deafness, Autosomal Recessive 99
Deafness, Autosomal Dominant 37
Deafness, Autosomal Dominant 75
Deafness, Autosomal Dominant 76
Deafness, Autosomal Dominant 77
Deafness, Autosomal Dominant 78
Deafness, Autosomal Dominant 79
Deafness, Autosomal Recessive 116
Deafness, Autosomal Recessive 117
Deafness, Autosomal Dominant 80
Deafness, Autosomal Dominant 81
Deafness, Autosomal Recessive 119
Deafness, Autosomal Dominant 82
Deafness, Autosomal Dominant 83
Deafness, Autosomal Dominant 84
Deafness, Autosomal Dominant 85
Deafness, Autosomal Recessive 120
Autosomal Dominant Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness
Autosomal Recessive Nonsyndromic Deafness 106
Autosomal Recessive Nonsyndromic Deafness 107
Autosomal Recessive Nonsyndromic Deafness 108
Autosomal Dominant Nonsyndromic Deafness 71
Autosomal Dominant Nonsyndromic Deafness 72
Autosomal Dominant Nonsyndromic Deafness 73
Autosomal Dominant Nonsyndromic Deafness 34
Autosomal Recessive Nonsyndromic Deafness 3
Autosomal Recessive Nonsyndromic Deafness 32
Autosomal Recessive Nonsyndromic Deafness 36
Autosomal Recessive Nonsyndromic Deafness 70
Autosomal Dominant Nonsyndromic Deafness 78
Autosomal Dominant Nonsyndromic Deafness 79
Autosomal Recessive Nonsyndromic Deafness 116
Autosomal Dominant Nonsyndromic Deafness 74
Autosomal Dominant Nonsyndromic Deafness 75
Autosomal Dominant Nonsyndromic Deafness 76
Autosomal Dominant Nonsyndromic Deafness 77
Otof-Related Deafness
Familial Deafness
疾病数据库：MALACARD DFN134 OMIM 616357