Metatropic Dysplasia (MTD)

Alias:

Metatropic Dwarfism

Metatropic Dysplasia Type 1

Mtd

Dysplasia, Metatrophic

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Metatropic Dysplasia, also known as metatropic dwarfism, is related to hereditary motor and sensory neuropathy, type iic and osteochondrodysplasia. 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 L1CAM interactions and Endochondral ossification with skeletal dysplasias. Affiliated tissues include bone and spinal cord, and related phenotypes are scoliosis and kyphosis

Related ID：

MALACARDS：MTT002

OMIM：156530

MESH：C537356