Disease Info Card

Ellis-van Creveld Syndrome

Information about Ellis-van Creveld Syndrome: 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 Ellis-van Creveld Syndrome

Most recent studies have shown that Ellis-van Creveld Syndrome shares some biological mechanisms with achondroplasia, bone-diseases-developmental, chondrodysplasia-punctata, congenital-abnormality, congenital-heart-defects, congenital-heart-disease, developmental-absence-of-tooth, dwarfism, dysostoses, dysplasia, dystrophy, ectodermal-dysplasia, endocardial-cushion-defects, heart-diseases, jeune-thoracic-dystrophy, osteochondrodysplasias, polydactyly, skeletal-dysplasia, tooth-abnormalities.

Among the many pathways, these few ones have gauged particular interests from scientists studying Ellis-van Creveld Syndrome, and have been seen in publications frequently: Chondrocyte Hypertrophy, Chondrocyte Proliferation, Endocardial Cushion Development, Endochondral Ossification, Heart Development, Intraflagellar Transport, Localization, Lung Growth, Mating, Ossification, Osteoblast Differentiation, Pathogenesis, Tissue Development, Tissue Homeostasis, Transport, Transposition, Tube Fusion, Wound Healing

Quite a number of genes have been found to play important roles in Ellis-van Creveld Syndrome, such as ATM, CRMP1, DCN, EVC, EVC2, FUT1, GLI1, HFE, IFT80, IHH, MSX1, MTSS1, NKX2-5, NT5E, NTS, SMO, SMOX, UCN2. 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.

Ellis-van Creveld Syndrome Related Genes

click to see detail information for each gene

ATM CRMP1 DCN
EVC EVC2 FUT1
GLI1 HFE IFT80
IHH MSX1 MTSS1
NKX2-5 NT5E NTS
SMO SMOX UCN2