SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Disease: Leri-Weill dyschondrosteosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA). 19169498 2008
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for mesomelic growth retardation and Madelung deformity in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. 10878753 2000
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome. 16807223 2006
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Defects of the pseudoautosomal homeobox gene SHOX were previously shown to lead to short stature and Leri-Weill syndrome, and haploinsufficiency of SHOX was implicated to cause the short stature phenotype in Turner syndrome. 10749976 2000
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Genetic alterations in SHOX result in two skeletal dysplasias; Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), while no human genetic disease has been linked to date with SHOX2. 24421874 2014
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE In the LWD+ group, MLPA analysis detected nine deletions in PAR1 region, with a deleterious effect on SHOX, first reported case of isolated SHOX enhancer duplication, and SHOX mutation (68.8%). 22020182 2012
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE LWD in the proband and his mother was explained by SHOX haploinsufficiency. 11503163 2001
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Two regions of the pseudoautosomal region 1 (PAR1) have been shown to be involved in LWD, SHOX (short-stature homeobox-containing gene) and the downstream enhancer region. 20412871 2010
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Remarkably, the proband with LWD had inherited both a SHOX deletion and a duplication. 19533800 2009
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE One of these genes, SHOX, is believed to play a major role in growth, since defects in this homeobox-containing gene on the sex chromosomes lead to syndromal short stature (Leri-Weill dyschondrosteosis, Langer mesomelic dysplasia, and Turner syndrome) as well as to idiopathic short stature. 15931595 2005
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Dyschondrosteosis (DCS) is an autosomal dominant form of mesomelic dysplasia that has been recently ascribed to large-scale deletions and nonsense mutations of the SHOX gene on the pseudoautosomal region of chromosome X and Y [Belin et al., 1998: Nat Genet 19:67-69; Shears et al., 1998: Nat Genet 19:70-73]. 11891678 2001
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Moreover, different SHOX missense mutations, identified in LWD and ISS patients, disrupted this interaction. 21262861 2011
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome. 10626546 1999
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Short stature homeobox-containing (SHOX) gene deficiency is acknowledged under the term "dyschondrosteosis", which is included in the family of congenital osteodystrophies. 21057185 2010
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Mutations within the SHOX gene cause Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LD) as well as idiopathic short stature (ISS). 15173321 2004
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Similarly, when LWD and marked short stature occur in a patient with mosaic Turner syndrome, the possibility of mutations in SHOX and the downstream of SHOX gene should be considered. 20683993 2010
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE SHOX-molecular analysis is indicated in families with LWD and ISS children with disproportionate short stature. 21150837 2010
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Originally described as a gene responsible for idiopathic short stature, it has become clear that SHOX mutations can also cause mesomelic short stature and Madelung deformity in Léri-Weill syndrome. 11408757 2001
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE In conclusion, SHOX defects were the main cause of LWD. 15356038 2004
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Deletions of the terminal Xp regions, including the short-stature homeobox (SHOX) gene, were described in families with hereditary Turner syndrome and Léri-Weill syndrome. 11471178 2001
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. 10905666 2000
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE In conclusion, we have identified A170P as the first frequent SHOX mutation in Gypsy LWD and LMD individuals. 21712857 2011
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease UNIPROT In this study, we performed mutational analysis of the coding region of the SHOX gene in five DCO and 18 HCH patients, all of whom tested negative for the known HCH-associated FGFR3 mutations. 11030412 2000
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Functional impairment of the human homeobox gene SHOX causes short stature and Madelung deformity in Leri-Weill syndrome (LWS) and has recently been implicated in additional skeletal malformations frequently observed in Turner syndrome. 11751690 2001
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation disease BEFREE Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. 10507731 1999