MCID: SHX003
MIFTS: 12

Shox Deficiency Disorders

Aliases & Classifications for Shox Deficiency Disorders

MalaCards integrated aliases for Shox Deficiency Disorders:

Name: Shox Deficiency Disorders 24

Characteristics:

GeneReviews:

24
Penetrance While the penetrance of shox deficiency is high, its clinical expression is highly variable, becomes more pronounced with age, and is more severe in females....

Summaries for Shox Deficiency Disorders

MalaCards based summary : Shox Deficiency Disorders is related to leri-weill dyschondrosteosis and dwarfism. An important gene associated with Shox Deficiency Disorders is SHOX (Short Stature Homeobox). Affiliated tissues include bone.

GeneReviews: NBK1215

Related Diseases for Shox Deficiency Disorders

Diseases related to Shox Deficiency Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leri-weill dyschondrosteosis 29.1 SHOX CNE7 CNE6
2 dwarfism 10.0
3 madelung deformity 10.0
4 mesomelia 10.0
5 autism 6.3 CNE9 CNE8 CNE7 CNE6 CNE5 CNE4
6 langer mesomelic dysplasia 6.2 SHOX CNE9 CNE8 CNE7 CNE6 CNE5

Graphical network of the top 20 diseases related to Shox Deficiency Disorders:



Diseases related to Shox Deficiency Disorders

Symptoms & Phenotypes for Shox Deficiency Disorders

Drugs & Therapeutics for Shox Deficiency Disorders

Search Clinical Trials , NIH Clinical Center for Shox Deficiency Disorders

Genetic Tests for Shox Deficiency Disorders

Anatomical Context for Shox Deficiency Disorders

MalaCards organs/tissues related to Shox Deficiency Disorders:

41
Bone

Publications for Shox Deficiency Disorders

Articles related to Shox Deficiency Disorders:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Complete SHOX deficiency causes Langer mesomelic dysplasia. 38 4
12116254 2002
2
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature. 4
29706635 2018
3
SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester. 4
29330548 2018
4
Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X. 4
29271572 2018
5
Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes. 4
28667773 2017
6
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. 4
28705803 2017
7
Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample. 4
28629824 2017
8
Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region. 4
27604558 2017
9
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. 4
27861128 2016
10
A Track Record on SHOX: From Basic Research to Complex Models and Therapy. 4
27355317 2016
11
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. 4
26984564 2016
12
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature. 4
26698168 2016
13
Diagnostics of SHOX gene rearrangement in 46,XX women with idiopathic short stature. 4
27387244 2016
14
Novel approaches to short stature therapy. 4
26051296 2015
15
A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects. 4
26337568 2015
16
Radiological Features in Patients with Short Stature Homeobox-Containing (SHOX) Gene Deficiency and Turner Syndrome before and after 2 Years of GH Treatment. 4
25967354 2015
17
Copy number variants in patients with short stature. 4
24065112 2014
18
SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature. 4
24689071 2014
19
Identification of novel SHOX target genes in the developing limb using a transgenic mouse model. 4
24887312 2014
20
GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial. 4
23720786 2013
21
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect. 4
23636926 2013
22
The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis. 4
24296787 2013
23
Short stature before puberty: which children should be screened for SHOX deficiency? 4
24051572 2013
24
Genotypes and phenotypes of children with SHOX deficiency in France. 4
22518848 2012
25
Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. 4
22791839 2012
26
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis. 4
22020182 2012
27
FGFR3 is a target of the homeobox transcription factor SHOX in limb development. 4
21273290 2011
28
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer. 4
21262861 2011
29
Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression. 4
21448463 2011
30
The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis. 4
21068148 2011
31
Short stature due to SHOX deficiency: genotype, phenotype, and therapy. 4
21325865 2011
32
Enhancer elements upstream of the SHOX gene are active in the developing limb. 4
19997128 2010
33
Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. 4
19578035 2009
34
BNP is a transcriptional target of the short stature homeobox gene SHOX. 4
17881654 2007
35
Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family. 4
17994568 2007
36
Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature. 4
17911654 2007
37
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. 4
17182655 2007
38
Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. 4
17047017 2007
39
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. 4
17200153 2007
40
Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. 4
17047016 2007
41
Expression of the short stature homeobox gene Shox is restricted by proximal and distal signals in chick limb buds and affects the length of skeletal elements. 4
16904661 2006
42
High incidence of SHOX anomalies in individuals with short stature. 4
16597678 2006
43
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. 4
16826534 2006
44
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. 4
16007631 2005
45
Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. 4
15931595 2005
46
Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. 4
15931687 2005
47
SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. 4
15356038 2004
48
Turner's syndrome. 4
15371580 2004
49
Expression of SHOX in human fetal and childhood growth plate. 4
15292358 2004
50
The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes. 4
15145945 2004

Variations for Shox Deficiency Disorders

Expression for Shox Deficiency Disorders

Search GEO for disease gene expression data for Shox Deficiency Disorders.

Pathways for Shox Deficiency Disorders

GO Terms for Shox Deficiency Disorders

Sources for Shox Deficiency Disorders

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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