Disease

Weill-Marchesani Syndrome

About the Disease
Weill-Marchesani Syndrome, also known as spherophakia-brachymorphia syndrome, is related to weill-marchesani syndrome 1 and ectopia lentis 2, isolated, autosomal recessive, and has symptoms including joint stiffness An important gene associated with Weill-Marchesani Syndrome is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Metabolism of proteins and Disease. Affiliated tissues include eye, bone and heart, and related phenotypes are short stature and glaucoma

Common Targets
FBN1 | ADAMTS10 | LTBP2 | ADAMTS17

疾病靶点研报
Weill-Marchesani Syndrome

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