Disease Info Card

Smith-magenis Syndrome

Information about Smith-magenis 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-magenis Syndrome

Most recent studies have shown that Smith-magenis Syndrome shares some biological mechanisms with autistic-disorder, brachydactyly, child-behavior-disorders, congenital-abnormality, craniofacial-abnormalities, cytogenetic-abnormality, developmental-delay-(disorder), developmental-disabilities, duplication-17p112-syndrome, dwarfism, haploinsufficiency, hereditary-diseases, loss-of-chromosome-17, multiple-congenital-anomalies, muscle-hypotonia, sleep-disorders.

Among the many pathways, these few ones have gauged particular interests from scientists studying Smith-magenis Syndrome, and have been seen in publications frequently: Aging, Brain Development, Cell Adhesion, Cellularization, Cholesterol Homeostasis, Circadian Rhythm, Cognition, Fertilization, Flight, Gastrulation, Gene Conversion, Interphase, Localization, Metaphase, Ossification, Pathogenesis, Prophase, Secretion, Transposition

Quite a number of genes have been found to play important roles in Smith-magenis Syndrome, such as CFD, COPS3, DSP, ENDOU, ERBB2, EXOSC6, FLII, GDI1, KCNJ12, LLGL1, MYO15A, PMP22, PTGDR, RAI1, RNF112, S100A10, SMS. 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-magenis Syndrome Related Genes

click to see detail information for each gene

CFD COPS3 DSP
ENDOU ERBB2 EXOSC6
FLII GDI1 KCNJ12
LLGL1 MYO15A PMP22
PTGDR RAI1 RNF112
S100A10 SMS