Disease

Metatropic Dysplasia

About the Disease
Metatropic Dysplasia, also known as metatropic dwarfism, is related to spondyloepiphyseal dysplasia, maroteaux type and hereditary motor and sensory neuropathy, type iic. An important gene associated with Metatropic Dysplasia is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are CREB Pathway and Ion channel transport. Affiliated tissues include bone, spinal cord and trachea, and related phenotypes are scoliosis and kyphosis

Common Targets
TRPV4

疾病靶点研报
Metatropic Dysplasia

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