MCID: SHX002
MIFTS: 12

Shox-Related Short Stature

Categories: Genetic diseases

Aliases & Classifications for Shox-Related Short Stature

MalaCards integrated aliases for Shox-Related Short Stature:

Name: Shox-Related Short Stature 24

Classifications:



Summaries for Shox-Related Short Stature

MalaCards based summary : Shox-Related Short Stature is related to short stature, idiopathic familial and leri-weill dyschondrosteosis, and has symptoms including high palate, micrognathia and short neck. An important gene associated with Shox-Related Short Stature is SHOX (Short Stature Homeobox). Affiliated tissues include skeletal muscle.

Related Diseases for Shox-Related Short Stature

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

id Related Disease Score Top Affiliating Genes
1 short stature, idiopathic familial 11.2
2 leri-weill dyschondrosteosis 11.1

Symptoms & Phenotypes for Shox-Related Short Stature

Human phenotypes related to Shox-Related Short Stature:

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 high palate 32 hallmark (90%) HP:0000218
2 micrognathia 32 hallmark (90%) HP:0000347
3 short neck 32 hallmark (90%) HP:0000470
4 obesity 32 frequent (33%) HP:0001513
5 short foot 32 hallmark (90%) HP:0001773
6 scoliosis 32 hallmark (90%) HP:0002650
7 genu valgum 32 hallmark (90%) HP:0002857
8 cubitus valgus 32 hallmark (90%) HP:0002967
9 tibial bowing 32 hallmark (90%) HP:0002982
10 madelung deformity 32 hallmark (90%) HP:0003067
11 skeletal muscle hypertrophy 32 hallmark (90%) HP:0003712
12 short stature 32 hallmark (90%) HP:0004322
13 ulnar radial head dislocation 32 hallmark (90%) HP:0005856
14 episodic ketoacidosis 32 hallmark (90%) HP:0005974
15 lower limb undergrowth 32 hallmark (90%) HP:0009816
16 forearm undergrowth 32 hallmark (90%) HP:0009821

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

Genetic tests related to Shox-Related Short Stature:

id Genetic test Affiliating Genes
1 Shox-Related Short Stature 24 SHOX

Anatomical Context for Shox-Related Short Stature

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

39
Skeletal Muscle

Publications for Shox-Related Short Stature

Variations for Shox-Related Short Stature

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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