Simpson-Golabi-Behmel Syndrome malady

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Disease Ontology10 DOID:0060248 MeSH36 C537340 Orphanet51 373 SNOMED-CT59 439143004

ICD10 via Orphanet28 Q87.3 MESH via Orphanet37 C537340 UMLS65 C0796154

NIH Rare Diseases:⁴⁵ 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 based summary: Simpson-Golabi-Behmel Syndrome, also known as simpson dysmorphia syndrome, is related to simpson-golabi-behmel syndrome, type 2 and simpson-golabi-behmel syndrome, type 1, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, coarse face and hypertelorism. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (Glypican 3), and among its related pathways are Non-Canonical Wnt Pathway and Proteoglycans in cancer. Affiliated tissues include heart, spleen and testes, and related mouse phenotype skeleton.

Disease Ontology:¹⁰ An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.

Genetics Home Reference:²³ 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.