Parastremmatic Dwarfism (PSTD)

Alias:

Parastremmatic Dysplasia

Dwarfism, Parastremmatic

Pstd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Parastremmatic Dwarfism, also known as parastremmatic dysplasia, is related to hereditary motor and sensory neuropathy, type iic and metatropic dysplasia. An important gene associated with Parastremmatic Dwarfism is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Ion channel transport and L1CAM interactions. Affiliated tissues include bone and prefrontal cortex, and related phenotypes are scoliosis and kyphosis

Related ID：

MALACARDS：PRS051

OMIM：168400

MESH：C537172