Disease Info Card

Smith-lemli-opitz Syndrome

Information about Smith-lemli-opitz 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 Smith-lemli-opitz Syndrome

Most recent studies have shown that Smith-lemli-opitz Syndrome shares some biological mechanisms with chondrodysplasia-punctata, cleft-palate, congenital-abnormality, congenital-heart-defects, developmental-delay-(disorder), disorders-of-sex-development, fetal-diseases, growth-disorders, growth-retardation, hereditary-diseases, holoprosencephaly, hypospadias, limb-deformities-congenital, microcephaly, multiple-congenital-anomalies, nervousness, polydactyly, syndactyly.

Among the many pathways, these few ones have gauged particular interests from scientists studying Smith-lemli-opitz Syndrome, and have been seen in publications frequently: Aging, Brain Development, Cell Cycle, Cell Division, Cell Proliferation, Cholesterol Efflux, Cholesterol Homeostasis, Cholesterol Transport, Excretion, Intestinal Absorption, Limb Development, Localization, Myelination, Pathogenesis, Phototransduction, Secretion, Sterol Transport, Translation, Transport, Transposition

Quite a number of genes have been found to play important roles in Smith-lemli-opitz Syndrome, such as AFP, APOE, CYP27A1, CYP7A1, DHCR7, FDFT1, HMGCR, KCNMA1, MID1, MID2, MPG, POMC, SHH, SMOX, TRIM17. 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.

Smith-lemli-opitz Syndrome Related Genes

click to see detail information for each gene

AFP APOE CYP27A1
CYP7A1 DHCR7 FDFT1
HMGCR KCNMA1 MID1
MID2 MPG POMC
SHH SMOX TRIM17