www.ncbi.nlm.nih.gov WebMay 2, 2024 · vEDS or Ehlers-Danlos syndrome type IV is an autosomal dominant disorder of COL3A1 which encodes type III collagen, an important component of the connective tissue in skin, blood vessel walls and …
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WebCOL3A1 (Collagen type III alpha-1 chain mutations) Wikipedia (Type-III collagen entry) Enzyme and pathway databases. PathwayCommons. P02461; ... GeneReviews. COL3A1; HGNC. HGNC:2201 COL3A1; HPA. ENSG00000168542 Tissue enhanced (cervix, gallbladder, placenta, smooth muscle) MIM. 120240 gene; 130050 phenotype; 618343 … WebApr 28, 2004 · Clinical Description. L1 syndrome is seen almost exclusively in males. Affected Males. L1 syndrome comprises three clinical …
WebMay 2, 2024 · COL3A1. Collagen, type III. Thin and translucent skin; Fragile tissue prone to rupture (arteries, muscles, internal organs) Easy bruising; Joint laxity and hypermobility; Characteristic facial features (pinched … WebCOL1A1, COL3A1, COL5A1, COL5A2 CLINICAL FEATURES The Ehlers-Danlos syndromes (EDS) are a group of heritable disorders of connective tissue with at least 13 ... GeneReviews, or to the references cited above. GENETICS Autosomal Dominant TEST METHODS Using genomic DNA from the submitted specimen, the complete coding …
WebCOL1A1 gene collagen type I alpha 1 chain Normal Function The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera). WebTwo proα1(IV) chains, encoded by COL4A1, form trimers that contain, in addition, a proα2(IV) chain encoded by COL4A2 and are the major component of the basement …
WebGeneReviews COL3A1 MIM 120240 gene 130050 phenotype 618343 phenotype MalaCards COL3A1 OpenTargets ENSG00000168542 Orphanet 2500 Acrogeria 86 Familial abdominal aortic aneurysm 231160 Familial cerebral saccular aneurysm 286 Vascular Ehlers-Danlos syndrome PharmGKB PA26716 Chemistry ChEMBL …
WebNo mutation was identified in the COL3A1 gene ( 120240 ), but a deletion mutation was detected in the COL5A1 gene ( 120245.0011) in all 3 affected family members. The molecular diagnosis allowed the investigators to categorize the family into the classic form of EDS, which is associated with a good long-term prognosis. lake thurmond sc real estateWebGenes: ADAMTS2, B3GALT6, B4GALT7, C1R, C1S, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, DSE, FKBP14, FLNA, P3H1, PLOD1, PRDM5, SLC39A13, TNXB, ZNF469 ( 22 genes ) Coverage: 96% at … hells angels mc chicagoWebCOL3A1 encodes the proα1 (III) chain of type III procollagen, a major structural component of skin, blood vessels, and hollow organs. The type III procollagen molecule is a … lake thurmond sc sizeWebThe COL7A1 gene provides instructions for making a protein called pro-α1 (VII) chain that is used to assemble a larger protein called type VII collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. In particular, type VII collagen plays an ... lake ticoaWebFeb 21, 2024 · The diagnosis of vEDS is established in a proband by identification of a heterozygous pathogenic variant in COL3A1, or, when molecular genetic testing does … hells angels massachusetts chapter presidentsWeb157 rows · BWS is an overgrowth disorder characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, and embryonal tumors. Early … hells angels mc coloradoWebMay 29, 2007 · Classic Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf. Classic Ehlers-Danlos syndrome (cEDS) is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and … lake thurmond water level today