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ISS
MCID: SHR108
MIFTS: 25

Short Stature, Idiopathic, X-Linked (ISS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Short Stature, Idiopathic, X-Linked

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare bone diseases
Developmental anomalies during embryogenesis


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Summaries for Short Stature, Idiopathic, X-Linked

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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.

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Related Diseases for Short Stature, Idiopathic, X-Linked

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

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

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

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Genetic Tests for Short Stature, Idiopathic, X-Linked

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

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

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

41
Bone, Skeletal Muscle
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Publications for Short Stature, Idiopathic, X-Linked

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Variations for Short Stature, Idiopathic, X-Linked

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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
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Expression for Short Stature, Idiopathic, X-Linked

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

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GO Terms for Short Stature, Idiopathic, X-Linked

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Sources for Short Stature, Idiopathic, X-Linked

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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