SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 GeneticVariation disease BEFREE SHOX gene deletion screening by FISH in children with short stature and Madelung deformity and their characteristics. 30332396 2018
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 Biomarker disease BEFREE Haploinsufficiency of the human SHOX gene causes Léri-Weill dyschondrosteosis (LWD), characterized by shortening of the middle segments of the limbs and Madelung deformity of the wrist. 30250174 2018
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 GeneticVariation disease BEFREE A170P mutation in SHOX gene in a patient not presenting with Madelung deformity. 22461651 2012
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 Biomarker disease BEFREE Defects in SHOX or its enhancers have been observed in ∼60% of Leri-Weill dyschondrosteosis (LWD) patients, a skeletal dysplasia characterised by short stature and/or the characteristic Madelung deformity, and in 2-5% of idiopathic short stature (ISS). 22791839 2012
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 GeneticVariation disease BEFREE Short stature homeobox- containing (SHOX) gene defects determine a highly variable phenotype, that includes an osteochondrodysplasia with mesomelic short stature and Madelung deformity, but also presentations without evident malformations. 21057181 2010
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 GeneticVariation disease BEFREE Heterozygous mutations of SHOX have been implicated in patients with Madelung's deformity, Leri-Weill dyschondrosteosis (77%), Turner's syndrome (66%), and idiopathic short stature (3%), and homozygous mutations of SHOX gene have been identified in patients with Langer's mesomelic dysplasia (100%). 19724992 2009
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 GeneticVariation disease BEFREE Here we describe a case of a Hispanic male with idiopathic short stature and Madelung deformity with a novel mutation in the SHOX gene. 17028440 2007
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 GeneticVariation disease BEFREE The study was designed to determine the following: the prevalence of SHOX anomalies in ISS; the frequency of Madelung deformity in individuals with SHOX anomalies; and the value of a family history of short stature in deciding whether to test for the SHOX gene. 16597678 2006
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 GeneticVariation disease BEFREE SHOX mutations causing haploinsufficiency were reported in Leri-Weill dyschondrosteosis (LWD), which is characterized by mesomelic short stature and Madelung deformity of the wrists. 15356038 2004
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 Biomarker disease BEFREE SHOX haploinsufficiency leads to short arms in 92%, bilateral Madelung deformity in 73% and short stature in 54%. 14513875 2003
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 GeneticVariation disease BEFREE Family studies of the children with SHOX mutations often reveal older family members with same mutation who exhibit mild skeletal features reminiscent of the Turner syndrome, such as high-arched palate, short neck, abnormal auricular development, cubitus valgus, genu valgum, short fourth metacarpals, and Madelung deformity. 11889216 2002
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 GeneticVariation disease BEFREE SSCP and partial sequencing of the SHOX gene in one patient with Madelung deformity and two SHOX alleles. 11874178 2002
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 Biomarker disease BEFREE SHOX haploinsufficiency usually results in mesomelic short stature and Turner skeletal features, including Madelung deformity with puberty, in subjects with normal gonadal function. 11134233 2001
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 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: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 Biomarker disease BEFREE The results suggest that GH therapy may have variable statural effects in SHOX haploinsufficiency as in most disorders including Turner syndrome, and that GnRHa therapy after pubertal entry may be insufficient to prevent the development of skeletal lesions such as Madelung deformity. 11523902 2001
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 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: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 Biomarker disease BEFREE Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity. 11735031 2001
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 Biomarker disease BEFREE We investigated the relationship between SHOX mutations, height deficit, and Madelung deformity to determine the contribution of SHOX haploinsufficiency to the LWD and Turner syndrome (TS) phenotypes. 11739418 2001
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 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: C0152441
Disease: Madelung Deformity
Madelung Deformity
0.200 Biomarker disease HPO