ISS
MCID: SHR108
MIFTS: 25

Short Stature, Idiopathic, X-Linked (ISS)

Categories: Bone diseases, Fetal diseases, Genetic 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
Shox-Related Short Stature 59 37
Iss 57 75
Stature, Short, Idiopathic Familial 40

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 pertussis and myeloma, multiple. An important gene associated with Short Stature, Idiopathic, X-Linked is SHOX (Short Stature Homeobox). Affiliated tissues include bone and skeletal muscle, and related phenotypes are short neck and obesity

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 18)
# Related Disease Score Top Affiliating Genes
1 pertussis 11.1
2 myeloma, multiple 10.3
3 rothmund-thomson syndrome 10.3
4 insulin-like growth factor i 10.1
5 lymphoma 10.1
6 leri-weill dyschondrosteosis 9.9
7 renal cell carcinoma, nonpapillary 9.9
8 lymphoma, hodgkin, classic 9.9
9 orthostatic intolerance 9.9
10 lymphoma, non-hodgkin, familial 9.9
11 spondyloocular syndrome 9.9
12 follicular lymphoma 9.9
13 hepatitis 9.9
14 hepatitis b 9.9
15 chlamydia 9.9
16 influenza 9.9
17 growth hormone deficiency 9.9
18 head injury 9.9

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 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
3 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
4 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
5 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
8 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
9 cubitus valgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002967
10 madelung deformity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003067
11 skeletal muscle hypertrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003712
12 tibial bowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002982
13 lower limb undergrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009816
14 forearm undergrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009821
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
Bone, Skeletal Muscle

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 76)
# 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.279G> T (p.Gly93=) single nucleotide variant Likely benign rs193922465 GRCh38 Chromosome X, 634619: 634619
10 SHOX NM_000451.3(SHOX): c.279G> T (p.Gly93=) single nucleotide variant Likely benign rs193922465 GRCh37 Chromosome X, 595354: 595354
11 SHOX NM_000451.3(SHOX): c.279G> T (p.Gly93=) single nucleotide variant Likely benign rs193922465 GRCh37 Chromosome Y, 545354: 545354
12 SHOX NM_000451.3(SHOX): c.279G> T (p.Gly93=) single nucleotide variant Likely benign rs193922465 GRCh38 Chromosome Y, 634619: 634619
13 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh37 Chromosome X, 595422: 595422
14 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh38 Chromosome X, 634687: 634687
15 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh37 Chromosome Y, 545422: 545422
16 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh38 Chromosome Y, 634687: 634687
17 SHOX NM_000451.3(SHOX): c.400C> A (p.Arg134=) single nucleotide variant Benign/Likely benign rs193922467 GRCh37 Chromosome X, 595475: 595475
18 SHOX NM_000451.3(SHOX): c.400C> A (p.Arg134=) single nucleotide variant Benign/Likely benign rs193922467 GRCh38 Chromosome X, 634740: 634740
19 SHOX NM_000451.3(SHOX): c.400C> A (p.Arg134=) single nucleotide variant Benign/Likely benign rs193922467 GRCh38 Chromosome Y, 634740: 634740
20 SHOX NM_000451.3(SHOX): c.400C> A (p.Arg134=) single nucleotide variant Benign/Likely benign rs193922467 GRCh37 Chromosome Y, 545475: 545475
21 SHOX NM_000451.3(SHOX): c.63C> T (p.Gly21=) single nucleotide variant Benign/Likely benign rs142306835 GRCh38 Chromosome X, 630960: 630960
22 SHOX NM_000451.3(SHOX): c.63C> T (p.Gly21=) single nucleotide variant Benign/Likely benign rs142306835 GRCh37 Chromosome X, 591695: 591695
23 SHOX NM_000451.3(SHOX): c.63C> T (p.Gly21=) single nucleotide variant Benign/Likely benign rs142306835 GRCh37 Chromosome Y, 541695: 541695
24 SHOX NM_000451.3(SHOX): c.63C> T (p.Gly21=) single nucleotide variant Benign/Likely benign rs142306835 GRCh38 Chromosome Y, 630960: 630960
25 SHOX SHOX, 47.5-KB DEL, DOWNSTREAM ENHANCER deletion Pathogenic
26 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh38 Chromosome X, 624528: 624528
27 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh37 Chromosome X, 585263: 585263
28 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh38 Chromosome Y, 624528: 624528
29 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh37 Chromosome Y, 535263: 535263
30 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh37 Chromosome X, 585258: 585258
31 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh38 Chromosome X, 624523: 624523
32 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh38 Chromosome Y, 624523: 624523
33 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh37 Chromosome Y, 535258: 535258
34 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs199946685 GRCh37 Chromosome X, 585124: 585125
35 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs199946685 GRCh38 Chromosome X, 624389: 624390
36 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs199946685 GRCh38 Chromosome Y, 624389: 624390
37 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs199946685 GRCh37 Chromosome Y, 535124: 535125
38 SHOX NM_000451.3(SHOX): c.-372G> A single nucleotide variant Uncertain significance rs2239401 GRCh37 Chromosome X, 591261: 591261
39 SHOX NM_000451.3(SHOX): c.-372G> A single nucleotide variant Uncertain significance rs2239401 GRCh38 Chromosome X, 630526: 630526
40 SHOX NM_000451.3(SHOX): c.-372G> A single nucleotide variant Uncertain significance rs2239401 GRCh37 Chromosome Y, 541261: 541261
41 SHOX NM_000451.3(SHOX): c.-372G> A single nucleotide variant Uncertain significance rs2239401 GRCh38 Chromosome Y, 630526: 630526
42 SHOX NM_000451.3(SHOX): c.528G= (p.Glu176=) single nucleotide variant Uncertain significance rs778921118 GRCh38 Chromosome X, 640862: 640862
43 SHOX NM_000451.3(SHOX): c.528G= (p.Glu176=) single nucleotide variant Uncertain significance rs778921118 GRCh37 Chromosome X, 601597: 601597
44 SHOX NM_000451.3(SHOX): c.528G= (p.Glu176=) single nucleotide variant Uncertain significance rs778921118 GRCh38 Chromosome Y, 640862: 640862
45 SHOX NM_000451.3(SHOX): c.528G= (p.Glu176=) single nucleotide variant Uncertain significance rs778921118 GRCh37 Chromosome Y, 551597: 551597
46 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh38 Chromosome X, 640862: 640862
47 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh37 Chromosome X, 601597: 601597
48 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh38 Chromosome Y, 640862: 640862
49 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh37 Chromosome Y, 551597: 551597
50 SHOX NM_000451.3(SHOX): c.*41C> A single nucleotide variant Uncertain significance rs749355015 GRCh38 Chromosome X, 644677: 644677

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

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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