Simpson-Golabi-Behmel Syndrome (DGSX) malady

NIH Rare Diseases:⁴² Simpson-golabi-behmel syndrome (sgbs) is a condition that affects many parts of the body and occurs primarily in males. it is an overgrowth syndrome, which means that affected individuals have macrosomia and continue to grow and gain weight at an unusual rate. the severity varies from very mild forms in carrier females to infantile lethal forms in affected males. individuals typically have distinctive facial features including hypertelorism, macrostomia, macroglossia, a broad nose with an upturned tip, and palatal abnormalities. other, variable findings include extra nipples, diastasis recti, umbilical hernia, congenital heart defects, renal defects, gastrointestinal anomalies, skeletal anomalies, hand anomalies, genitourinary abnormalities, and hepatosplenomegaly. some people with the condition have mild to severe intellectual disability. about 10 percent of people with sgbs develop tumors in early childhood, including wilms tumor and neuroblastoma. some cases of sgbs are caused by mutations in the gpc3 gene and in other cases, the cause is unknown. it is inherited in an x-linked recessive manner. last updated: 2/15/2011

MalaCards: Simpson-Golabi-Behmel Syndrome, also known as sgbs1, is related to beckwith-wiedemann syndrome and sotos syndrome. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (glypican 3), and among its related pathways are Visual phototransduction and Heparan sulfate/heparin (HS-GAG) metabolism. The compounds diethylnitrosamine and c-peptide have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Genetics Home Reference:²¹ Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely. The most severe cases are life-threatening before birth or in infancy, whereas people with milder cases often live into adulthood.

Search GEO for disease gene expression data for Simpson-Golabi-Behmel Syndrome.