MCID: SHX002
MIFTS: 23

Shox-Related Short Stature

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Shox-Related Short Stature

MalaCards integrated aliases for Shox-Related Short Stature:

Name: Shox-Related Short Stature 12 36 6
Idiopathic Familial Short Stature 12

Classifications:



Summaries for Shox-Related Short Stature

KEGG : 36 Isolated short stature, Leri-Weill and Langer syndromes are conditions with growth retardation. Patients also exhibit mesomelic shortening in Leri-Weill and Langer syndromes. These conditions are due to mutations in SHOX gene within the pseudoautosomal regions of sex chromosomes.

MalaCards based summary : Shox-Related Short Stature, also known as idiopathic familial short stature, is related to short stature, idiopathic, x-linked and leri-weill dyschondrosteosis. An important gene associated with Shox-Related Short Stature is SHOX (Short Stature Homeobox). Affiliated tissues include skeletal muscle, and related phenotypes are scoliosis and high palate

Disease Ontology : 12 A bone development disease characterized by height below the third percentile for chronological age that has material basis in mutation in SHOX or SHOXY on chromosomes Xp22.33 and Yp11.2, respectively.

Related Diseases for Shox-Related Short Stature

Diseases related to Shox-Related Short Stature via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short stature, idiopathic, x-linked 31.5 SHOX LOC107652445
2 leri-weill dyschondrosteosis 31.1 SHOX LOC107652445
3 langer mesomelic dysplasia 9.6 SHOX LOC107652445
4 hypochondroplasia 9.6 SHOX LOC107652445

Symptoms & Phenotypes for Shox-Related Short Stature

Human phenotypes related to Shox-Related Short Stature:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 hallmark (90%) HP:0002650
2 high palate 31 hallmark (90%) HP:0000218
3 short neck 31 hallmark (90%) HP:0000470
4 short stature 31 hallmark (90%) HP:0004322
5 genu valgum 31 hallmark (90%) HP:0002857
6 cubitus valgus 31 hallmark (90%) HP:0002967
7 micrognathia 31 hallmark (90%) HP:0000347
8 madelung deformity 31 hallmark (90%) HP:0003067
9 skeletal muscle hypertrophy 31 hallmark (90%) HP:0003712
10 short foot 31 hallmark (90%) HP:0001773
11 tibial bowing 31 hallmark (90%) HP:0002982
12 lower limb undergrowth 31 hallmark (90%) HP:0009816
13 forearm undergrowth 31 hallmark (90%) HP:0009821
14 ulnar radial head dislocation 31 hallmark (90%) HP:0005856
15 episodic ketoacidosis 31 hallmark (90%) HP:0005974
16 obesity 31 frequent (33%) HP:0001513

Drugs & Therapeutics for Shox-Related Short Stature

Search Clinical Trials , NIH Clinical Center for Shox-Related Short Stature

Genetic Tests for Shox-Related Short Stature

Anatomical Context for Shox-Related Short Stature

MalaCards organs/tissues related to Shox-Related Short Stature:

40
Skeletal Muscle

Publications for Shox-Related Short Stature

Articles related to Shox-Related Short Stature:

# Title Authors PMID Year
1
Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. 6
22791839 2012
2
Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens. 6
15118270 2004
3
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. 6
11889216 2002
4
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. 6
9140395 1997
5
Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin. 61
27994182 2016
6
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. 61
10749976 2000

Variations for Shox-Related Short Stature

ClinVar genetic disease variations for Shox-Related Short Stature:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SHOX NC_000024.9:g.730550_778092del Deletion Pathogenic 66087 GRCh37:
GRCh38:
2 SHOX NM_000451.3(SHOX):c.583C>T (p.Arg195Ter) SNV Pathogenic 9872 rs137852552 GRCh37: X:601772-601772
GRCh38: X:641037-641037
3 SHOX NM_000451.3(SHOX):c.-646_-645insTGT Insertion Pathogenic 191363 rs1556450972 GRCh37: Y:535123-535124
GRCh38: X:624388-624389
4 SHOX NM_000451.3(SHOX):c.528G>C (p.Glu176Asp) SNV Pathogenic 265858 rs778921118 GRCh37: Y:551597-551597
GRCh38: X:640862-640862
5 SHOX NM_000451.3(SHOX):c.544+1G>A SNV Pathogenic 374328 rs1057518701 GRCh37: Y:551614-551614
GRCh38: X:640879-640879
6 LOC107652445 , SHOX NM_000451.3(SHOX):c.479G>A (p.Arg160His) SNV Likely pathogenic 635523 rs1159449478 GRCh37: Y:545554-545554
GRCh38: Y:634819-634819
7 LOC107652445 , SHOX NM_000451.3(SHOX):c.349C>T (p.Gln117Ter) SNV Likely pathogenic 983025 GRCh37: X:595424-595424
GRCh38: X:634689-634689
8 SHOX NM_000451.3(SHOX):c.49A>T (p.Lys17Ter) SNV Likely pathogenic 973779 GRCh37: X:591681-591681
GRCh38: X:630946-630946
9 LOC107652445 , SHOX NM_000451.3(SHOX):c.347A>G (p.Lys116Arg) SNV Likely pathogenic 36774 rs193922466 GRCh37: X:595422-595422
GRCh38: Y:634687-634687
10 SHOX NM_000451.3(SHOX):c.-19G>A SNV Likely pathogenic 933226 rs201157428 GRCh37: X:591614-591614
GRCh38: X:630879-630879
11 SHOX NM_000451.3(SHOX):c.-507G>C SNV Conflicting interpretations of pathogenicity 191361 rs111549748 GRCh37: X:585263-585263
GRCh38: Y:624528-624528
12 SHOX NM_000451.3(SHOX):c.-512C>A SNV Conflicting interpretations of pathogenicity 191362 rs113313554 GRCh37: X:585258-585258
GRCh38: X:624523-624523
13 SHOX NM_000451.3(SHOX):c.-372G>A SNV Uncertain significance 265856 rs2239401 GRCh37: X:591261-591261
GRCh38: X:630526-630526
14 SHOX NM_000451.3(SHOX):c.*41C>A SNV Uncertain significance 265859 rs749355015 GRCh37: Y:555412-555412
GRCh38: X:644677-644677
15 SHOX NM_000451.3(SHOX):c.*284_*285dup Duplication Uncertain significance 265860 rs369390009 GRCh37: X:605654-605655
GRCh38: X:644919-644920
16 SHOX NM_000451.3(SHOX):c.528= (p.Glu176=) SNV Uncertain significance 265857 rs778921118 GRCh37: Y:551597-551597
GRCh38: X:640862-640862
17 SHOX NM_000451.3(SHOX):c.-65C>A SNV Uncertain significance 992440 GRCh37: X:591568-591568
GRCh38: X:630833-630833
18 SHOX NM_000451.3(SHOX):c.544+10G>A SNV Uncertain significance 992441 GRCh37: X:601623-601623
GRCh38: X:640888-640888
19 SHOX NM_000451.3(SHOX):c.86A>C (p.Lys29Thr) SNV Uncertain significance 93095 rs146304983 GRCh37: Y:541718-541718
GRCh38: X:630983-630983
20 SHOX NM_006883.2(SHOX):c.676T>C (p.Ter226Arg) SNV Uncertain significance 803710 rs778160013 GRCh37: X:619562-619562
GRCh38: X:658827-658827
21 SHOX NM_000451.3(SHOX):c.803A>G (p.Lys268Arg) SNV Uncertain significance 397603 rs1060499711 GRCh37: X:605295-605295
GRCh38: X:644560-644560
22 SHOX NM_000451.3(SHOX):c.236A>T (p.Lys79Met) SNV Uncertain significance 496584 rs1556457962 GRCh37: Y:541868-541868
GRCh38: X:631133-631133
23 SHOX NM_000451.3(SHOX):c.-649C>G SNV Likely benign 265992 rs886039879 GRCh37: Y:535121-535121
GRCh38: Y:624386-624386
24 LOC107652445 , SHOX NM_000451.3(SHOX):c.400C>A (p.Arg134=) SNV Likely benign 36775 rs193922467 GRCh37: Y:545475-545475
GRCh38: X:634740-634740
25 LOC107652445 , SHOX NM_000451.3(SHOX):c.279G>T (p.Gly93=) SNV Likely benign 36773 rs193922465 GRCh37: X:595354-595354
GRCh38: X:634619-634619
26 SHOX NM_000451.3(SHOX):c.63C>T (p.Gly21=) SNV not provided 36776 rs142306835 GRCh37: X:591695-591695
GRCh38: X:630960-630960

Expression for Shox-Related Short Stature

Search GEO for disease gene expression data for Shox-Related Short Stature.

Pathways for Shox-Related Short Stature

GO Terms for Shox-Related Short Stature

Sources for Shox-Related Short Stature

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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