Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies (IMAGE)

宫内生长迟缓-干骺端发育不良-先天性肾上腺发育不全-生殖器异常(来自ICD-11)

别称:

Image Syndrome

Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies

Image

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Congenital Adrenal Hypoplasia, and Genital Anomalies

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities

Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies

Pyle Metaphyseal Dysplasia

Fetal Growth Retardation

Image Association

Image Anomaly

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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

宫内发育迟缓、骨骺发育不良、先天性肾上腺发育不全和生殖器畸形，也被称为影像综合症，与甘油激酶缺乏和骨骺发育不良有关。与宫内发育迟缓、骨骺发育不良、先天性肾上腺发育不全和生殖器畸形相关的基因是CDKN1C（细胞周期依赖性激酶抑制剂1C），其相关通路/超级通路包括有丝分裂G1期和G1/S转换。在该疾病的背景下，阿司匹林和柠檬酸钠已被提及。附属组织包括骨和睾丸，相关表型为前额突出和肌张力减退。

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