Disease Info Card

Spondyloepiphyseal Dysplasia, Congenita

Information about Spondyloepiphyseal Dysplasia, Congenita: characteristics, related genes and pathways, plus antibodies you can use for research. This page is being enriched constantly, if you see some information you would like this page to include please send your suggestions to us.

Overview of Spondyloepiphyseal Dysplasia, Congenita

Most recent studies have shown that Spondyloepiphyseal Dysplasia, Congenita shares some biological mechanisms with achondroplasia, acquired-kyphosis, bone-diseases-developmental, congenital-abnormality, diastrophic-dysplasia, dwarfism, dysplasia, hypoplasia, kniest-dysplasia, mucopolysaccharidosis-iv, myopia, osteochondrodysplasias, retinal-detachment, scoliosis-unspecified, skeletal-dysplasia, spondyloepiphyseal-dysplasia, stickler-syndrome-(disorder).

Among the many pathways, these few ones have gauged particular interests from scientists studying Spondyloepiphyseal Dysplasia, Congenita, and have been seen in publications frequently: Bone Development, Chondrocyte Differentiation, Endochondral Bone Growth, Fertilization, Ossification, Proteolysis, Secretion

Quite a number of genes have been found to play important roles in Spondyloepiphyseal Dysplasia, Congenita, such as AKR1C2, ARHGAP4, COL2A1, COMP, FGFR3, FLNA, HNRNPC, HTRA1, IHH, MYC, PFDN4, SCD, SLC10A3, SS18L1. See what Boster has to offer for the research of these genes by clicking the gene name links below and view a more detailed info card/product listing for that gene.

In a later update, we will include information such as current drugs and therapy solutions as well as on-going and past clinical trials for this disease. Plesae stay updated.

Spondyloepiphyseal Dysplasia, Congenita Related Genes

click to see detail information for each gene

AKR1C2 ARHGAP4 COL2A1
COMP FGFR3 FLNA
HNRNPC HTRA1 IHH
MYC PFDN4 SCD
SLC10A3 SS18L1

Pathways Related to Spondyloepiphyseal Dysplasia, Congenita

This information is being compiled and will come in a future update

Bone Development Chondrocyte Differentiation Endochondral Bone Growth
Fertilization Ossification Proteolysis
Secretion