Spondyloepiphyseal Dysplasia Tarda, X-Linked (SEDT)

Alias:

Spondyloepiphyseal Dysplasia Tarda

X-Linked Spondyloepiphyseal Dysplasia Tarda

Spondyloepiphyseal Dysplasia, Late

Sed Tarda, X-Linked

Sedt

Trappc2-Related X-Linked Spondyloepiphyseal Dysplasia Tarda

Late Onset Spondyloepiphyseal Dysplasia

Dysplasia, Spondyloepiphyseal, Tarda

Spondyloepiphyseal Dysplasia

X-Linked Sedt

X-Linked Sed

Sed Tarda

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spondyloepiphyseal Dysplasia Tarda, X-Linked, also known as spondyloepiphyseal dysplasia tarda, is related to spondyloepiphyseal dysplasia congenita and dyggve-melchior-clausen disease, and has symptoms including arthralgia An important gene associated with Spondyloepiphyseal Dysplasia Tarda, X-Linked is TRAPPC2 (Trafficking Protein Particle Complex Subunit 2), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Affiliated tissues include bone, and related phenotypes are failure to thrive and disproportionate short-trunk short stature

Related ID：

MALACARDS：SPN405

OMIM：313400