MCID: SHR108
MIFTS: 25

Short Stature, Idiopathic, X-Linked

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Short Stature, Idiopathic, X-Linked

MalaCards integrated aliases for Short Stature, Idiopathic, X-Linked:

Name: Short Stature, Idiopathic, X-Linked 57 75 29 6
Short Stature, Idiopathic Familial 57 13
Iss 57 75
Stature, Short, Idiopathic Familial 40
Shox-Related Short Stature 59

Characteristics:

Orphanet epidemiological data:

59
shox-related short stature
Age of onset: Infancy,Neonatal;

HPO:

32
short stature, idiopathic, x-linked:
Inheritance x-linked inheritance


Classifications:



Summaries for Short Stature, Idiopathic, X-Linked

OMIM : 57 Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations (SD) of national height standards in the absence of specific causative disorders (Rao et al., 1997). For a discussion of genetic heterogeneity of quantitative trait loci for stature, see STQTL1 (606255). (300582)

MalaCards based summary : Short Stature, Idiopathic, X-Linked, also known as short stature, idiopathic familial, is related to myeloma, multiple and insulin-like growth factor i. An important gene associated with Short Stature, Idiopathic, X-Linked is SHOX (Short Stature Homeobox). Affiliated tissues include skeletal muscle and bone, and related phenotypes are high palate and micrognathia

UniProtKB/Swiss-Prot : 75 Short stature, idiopathic, X-linked: A condition defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, genetically relevant population, in the absence of specific causative disorders.

Related Diseases for Short Stature, Idiopathic, X-Linked

Diseases related to Short Stature, Idiopathic, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 myeloma, multiple 10.1
2 insulin-like growth factor i 9.9
3 lymphoma 9.9
4 leri-weill dyschondrosteosis 9.8
5 renal cell carcinoma, nonpapillary 9.8
6 lymphoma, hodgkin, classic 9.8
7 orthostatic intolerance 9.8
8 lymphoma, non-hodgkin, familial 9.8
9 follicular lymphoma 9.8
10 hepatitis 9.8
11 hepatitis b 9.8
12 mucositis 9.8
13 chlamydia 9.8
14 influenza 9.8
15 growth hormone deficiency 9.8

Graphical network of the top 20 diseases related to Short Stature, Idiopathic, X-Linked:



Diseases related to Short Stature, Idiopathic, X-Linked

Symptoms & Phenotypes for Short Stature, Idiopathic, X-Linked

Clinical features from OMIM:

300582

Human phenotypes related to Short Stature, Idiopathic, X-Linked:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
2 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
3 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
6 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
7 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
8 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
9 cubitus valgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002967
10 tibial bowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002982
11 forearm undergrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009821
12 madelung deformity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003067
13 lower limb undergrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009816
14 skeletal muscle hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003712
15 ulnar radial head dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005856
16 episodic ketoacidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005974

Drugs & Therapeutics for Short Stature, Idiopathic, X-Linked

Search Clinical Trials , NIH Clinical Center for Short Stature, Idiopathic, X-Linked

Genetic Tests for Short Stature, Idiopathic, X-Linked

Genetic tests related to Short Stature, Idiopathic, X-Linked:

# Genetic test Affiliating Genes
1 Short Stature, Idiopathic, X-Linked 29 SHOX

Anatomical Context for Short Stature, Idiopathic, X-Linked

MalaCards organs/tissues related to Short Stature, Idiopathic, X-Linked:

41
Skeletal Muscle, Bone

Publications for Short Stature, Idiopathic, X-Linked

Variations for Short Stature, Idiopathic, X-Linked

ClinVar genetic disease variations for Short Stature, Idiopathic, X-Linked:

6
(show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHOX NM_000451.3(SHOX): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs137852552 GRCh37 Chromosome X, 601772: 601772
2 SHOX NM_000451.3(SHOX): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs137852552 GRCh38 Chromosome X, 641037: 641037
3 SHOX NM_000451.3(SHOX): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs137852552 GRCh38 Chromosome Y, 641037: 641037
4 SHOX NM_000451.3(SHOX): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs137852552 GRCh37 Chromosome Y, 551772: 551772
5 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh37 Chromosome X, 601586: 601586
6 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh38 Chromosome X, 640851: 640851
7 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh38 Chromosome Y, 640851: 640851
8 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh37 Chromosome Y, 551586: 551586
9 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh38 Chromosome X, 634687: 634687
10 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh37 Chromosome X, 595422: 595422
11 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh37 Chromosome Y, 545422: 545422
12 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh38 Chromosome Y, 634687: 634687
13 SHOX SHOX, 47.5-KB DEL, DOWNSTREAM ENHANCER deletion Pathogenic
14 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh38 Chromosome X, 624528: 624528
15 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh37 Chromosome X, 585263: 585263
16 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh38 Chromosome Y, 624528: 624528
17 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh37 Chromosome Y, 535263: 535263
18 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh37 Chromosome X, 585258: 585258
19 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh38 Chromosome X, 624523: 624523
20 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh38 Chromosome Y, 624523: 624523
21 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh37 Chromosome Y, 535258: 535258
22 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs199946685 GRCh37 Chromosome X, 585124: 585125
23 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs199946685 GRCh38 Chromosome X, 624389: 624390
24 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs199946685 GRCh38 Chromosome Y, 624389: 624390
25 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs199946685 GRCh37 Chromosome Y, 535124: 535125
26 SHOX NM_000451.3(SHOX): c.-372G> A single nucleotide variant Uncertain significance rs2239401 GRCh37 Chromosome X, 591261: 591261
27 SHOX NM_000451.3(SHOX): c.-372G> A single nucleotide variant Uncertain significance rs2239401 GRCh38 Chromosome X, 630526: 630526
28 SHOX NM_000451.3(SHOX): c.-372G> A single nucleotide variant Uncertain significance rs2239401 GRCh37 Chromosome Y, 541261: 541261
29 SHOX NM_000451.3(SHOX): c.-372G> A single nucleotide variant Uncertain significance rs2239401 GRCh38 Chromosome Y, 630526: 630526
30 SHOX NM_000451.3(SHOX): c.528G= (p.Glu176=) single nucleotide variant Uncertain significance rs778921118 GRCh38 Chromosome X, 640862: 640862
31 SHOX NM_000451.3(SHOX): c.528G= (p.Glu176=) single nucleotide variant Uncertain significance rs778921118 GRCh37 Chromosome X, 601597: 601597
32 SHOX NM_000451.3(SHOX): c.528G= (p.Glu176=) single nucleotide variant Uncertain significance rs778921118 GRCh38 Chromosome Y, 640862: 640862
33 SHOX NM_000451.3(SHOX): c.528G= (p.Glu176=) single nucleotide variant Uncertain significance rs778921118 GRCh37 Chromosome Y, 551597: 551597
34 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh38 Chromosome X, 640862: 640862
35 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh37 Chromosome X, 601597: 601597
36 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh38 Chromosome Y, 640862: 640862
37 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh37 Chromosome Y, 551597: 551597
38 SHOX NM_000451.3(SHOX): c.*41C> A single nucleotide variant Uncertain significance rs749355015 GRCh38 Chromosome X, 644677: 644677
39 SHOX NM_000451.3(SHOX): c.*41C> A single nucleotide variant Uncertain significance rs749355015 GRCh37 Chromosome X, 605412: 605412
40 SHOX NM_000451.3(SHOX): c.*41C> A single nucleotide variant Uncertain significance rs749355015 GRCh38 Chromosome Y, 644677: 644677
41 SHOX NM_000451.3(SHOX): c.*41C> A single nucleotide variant Uncertain significance rs749355015 GRCh37 Chromosome Y, 555412: 555412
42 SHOX NM_000451.3(SHOX): c.*284_*285dupAG duplication Uncertain significance rs369390009 GRCh38 Chromosome X, 644920: 644921
43 SHOX NM_000451.3(SHOX): c.*284_*285dupAG duplication Uncertain significance rs369390009 GRCh37 Chromosome X, 605655: 605656
44 SHOX NM_000451.3(SHOX): c.*284_*285dupAG duplication Uncertain significance rs369390009 GRCh37 Chromosome Y, 555655: 555656
45 SHOX NM_000451.3(SHOX): c.*284_*285dupAG duplication Uncertain significance rs369390009 GRCh38 Chromosome Y, 644920: 644921
46 SHOX NM_000451.3(SHOX): c.-649C> G single nucleotide variant Likely benign rs886039879 GRCh37 Chromosome X, 585121: 585121
47 SHOX NM_000451.3(SHOX): c.-649C> G single nucleotide variant Likely benign rs886039879 GRCh38 Chromosome X, 624386: 624386
48 SHOX NM_000451.3(SHOX): c.-649C> G single nucleotide variant Likely benign rs886039879 GRCh37 Chromosome Y, 535121: 535121
49 SHOX NM_000451.3(SHOX): c.-649C> G single nucleotide variant Likely benign rs886039879 GRCh38 Chromosome Y, 624386: 624386
50 SHOX NM_000451.3(SHOX): c.440G> A (p.Arg147His) single nucleotide variant Pathogenic rs886043634 GRCh37 Chromosome X, 595515: 595515

Expression for Short Stature, Idiopathic, X-Linked

Search GEO for disease gene expression data for Short Stature, Idiopathic, X-Linked.

Pathways for Short Stature, Idiopathic, X-Linked

GO Terms for Short Stature, Idiopathic, X-Linked

Sources for Short Stature, Idiopathic, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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