TNXB, tenascin XB, 7148

N. diseases: 127; N. variants: 79
Disease: Ehlers-Danlos syndrome, type 3 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268337
Disease: Ehlers-Danlos syndrome, type 3 (disorder)
Ehlers-Danlos syndrome, type 3 (disorder) 		0.130 GeneticVariation disease BEFREE Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. 27297501 2016
CUI: C0268337
Disease: Ehlers-Danlos syndrome, type 3 (disorder)
Ehlers-Danlos syndrome, type 3 (disorder) 		0.130 GeneticVariation disease BEFREE Seven families harbor a novel TNXB missense variant c.12174C>G (p.C4058W) and a clinical phenotype consistent with hypermobility-type Ehlers Danlos syndrome. 26075496 2015
CUI: C0268337
Disease: Ehlers-Danlos syndrome, type 3 (disorder)
Ehlers-Danlos syndrome, type 3 (disorder) 		0.130 Biomarker disease BEFREE First, TNXB haploinsufficiency or deficiency causes the range of clinical manifestations long identified with both EDS-HT and BJHS. 23830591 2013
CUI: C0268337
Disease: Ehlers-Danlos syndrome, type 3 (disorder)
Ehlers-Danlos syndrome, type 3 (disorder) 		0.130 GeneticVariation disease CLINVAR