Spondyloperipheral Dysplasia (SPD)

Alias:

Spondyloperipheral Dysplasia-Short Ulna Syndrome

Spondyloperipheral Dysplasia with Short Ulna

Spondyloperipheral Dysplasia Short Ulna

Spd

Dysplasia, Spondyloperipheral

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spondyloperipheral Dysplasia, also known as spd, is related to platyspondylic lethal skeletal dysplasia, torrance type and sensorineural hearing loss. An important gene associated with Spondyloperipheral Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone, and related phenotypes are hearing impairment and cleft palate

Related ID：

MALACARDS：SPN154

OMIM：271700