Disease

IMAGe Syndrome

About the Disease
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies, also known as image syndrome, is related to glycerol kinase deficiency and metaphyseal dysplasia. An important gene associated with Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C), and among its related pathways/superpathways is Mitotic G1 phase and G1/S transition. The drugs Iron and Copper have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and kidney, and related phenotypes are frontal bossing and depressed nasal bridge

Common Targets
POLE | CHFR | CDKN1C

疾病靶点研报
IMAGe Syndrome

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