Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism (CMDHH)

伴高促性腺激素型性腺功能减退的扩张型心肌病(来自ICD-11)

别称:

Malouf Syndrome

Najjar Syndrome

Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

Cardiogenital Syndrome

Genital Anomaly with Cardiomyopathy

Cardiomyopathy with Primary Testicular Failure

Cardiomyopathy, Congestive, with Hypergonadotropic Hypogonadism

Congestive Cardiomyopathy with Hypergonadotropic Hypogonadism

Cardiomyopathy Congestive with Hypergonadotropic Hypogonadism

Cardiomyopathy, Diltaed, with Hypergonadotropic Hypogonadism

Dilated Cardiomyopathy with Hypergonadotropic Hypogonadism

Cardiomyopathy, Dilated, with Premature Ovarian Failure

Dilated Cardiomyopathy with Premature Ovarian Failure

Cardiomyopathy Dilated with Premature Ovarian Failure

Cardiomyopathy Eith Primary Testicular Failure

Cmdhh

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

扩张型心肌病伴高促性腺激素性性腺功能减退症，又名马洛夫综合症，与克里格勒-纳贾尔综合症I型和哈钦森-吉尔福德早老症综合症有关。扩张型心肌病伴高促性腺激素性性腺功能减退症相关的重要基因是LMNA（Lamin A/C），其相关通路/超级通路包括细胞周期、有丝分裂和SLBP独立成熟的mRNA运输。在该疾病的背景下，已提到的药物有过氧化氢和肝提取物。相关组织包括心脏和睾丸，相关表型为眼睑下垂和早熟性性发育。

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