3-M Syndrome

About the Disease
Three M Syndrome 1, also known as 3-m syndrome, is related to isolated growth hormone deficiency, type ia and spina bifida occulta, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Three M Syndrome 1 is CUL7 (Cullin 7), and among its related pathways/superpathways are Metabolism of proteins and Class I MHC mediated antigen processing and presentation. The drugs Letrozole and Anastrozole have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and pituitary, and related phenotypes are frontal bossing and short neck

Common Targets
OBSL1 | PKHD1 | CUL7 | CCDC8

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