Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies (MURCS)

Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies (MDA-URA-CSA)(来自翻译大模型)

别称:

Mrkh Syndrome Type 2

Murcs Association

Mayer-Rokitansky-Kuster-Hauser Syndrome Type 2

Mayer-Rokitansky-Küster-Hauser Syndrome Type 2

Atypical Mrkh Syndrome

Mullerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome

Klippel-Feil Deformity, Conductive Deafness, and Absent Vagina

Murcs

Mullerian Duct Aplasia, Unilateral Renal Aplasia, and Cervicothoracic Somite Dysplasia

Müllerian Duct Aplasia-Renal Dysplasia-Cervical Somite Anomalies Syndrome

Müllerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia

Klippel-Feil Deformity - Conductive Deafness - Absent Vagina

Mayer-Rokitansky-Kuster-Hauser Syndrome, Type Ii

Mrkh, Type Ii

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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

Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies（MRKH综合征2型）与肾发育不良/肾缺如1和VACTERL协会有关。与Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies相关的基因是GREB1L（GREB1类似视黄酸受体共激活因子），其相关通路/超级通路包括人类胚胎干细胞多能性和WNT信号通路。相关组织包括子宫和肾脏，相关表型包括短颈和矮小。

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