WebThe COL2A1 gene is located on the long (q) arm of chromosome 12 between positions 13.11 and 13.2, from base pair 46,653,017 to base pair 46,684,527. Related conditions [ edit] Achondrogenesis type 2: Several kinds of mutations in the COL2A1 gene are responsible for achondrogenesis, type 2. WebSpondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs.
Table 4. [Disorders to Consider in the Differential Diagnosis of ...
WebBWS is an overgrowth disorder characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, and embryonal tumors. Early death may … WebIn this review, we highlight current knowledge of known mutations in the COL2A1 gene for these disorders, as well as genetic animal models related to the COL2A1 gene, which may help us understand the nature of complex phenotypes and underlying pathogenesis of … teleturbio
Stickler Syndrome - GeneReviews® - NCBI Bookshelf
WebNormal Function The SLC26A2 gene provides instructions for making a protein that transports charged molecules (ions), particularly sulfate ions, across cell membranes. This protein appears to be active in many of the body's tissues, including developing cartilage. WebSickle Cell Disease - GeneReviews® ... Other Allelic Disorders (not in the Differential Diagnosis of SMDCF) View in own window Gene Disorder COL2A1 1 Achondrogenesis type II Hypochondrogenesis Legg-Calve-Perthes disease (avascular necrosis of … WebGenes See tests for all associated and related genes Associated genes Help COL2A1 445 tests Also known as: ANFH, AOM, COL11A3, SEDC, STL1, COL2A1 Summary: collagen type II alpha 1 chain Related conditions Help C Clinical test, R Research test, O OMIM, G GeneReviews C R O G Hereditary hearing loss and deafness C R O G Alport syndrome teleutils