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ISS
MCID: SHR108
MIFTS: 34

Short Stature, Idiopathic, X-Linked (ISS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications 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 58 76 30 6
Iss 58 76 17
Short Stature, Idiopathic Familial 58 13
Shox-Related Short Stature 60 38
Stature, Short, Idiopathic Familial 41

Characteristics:

Orphanet epidemiological data:

60
shox-related short stature
Age of onset: Infancy,Neonatal;

HPO:

33
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: 35
Orphanet: 60  
Rare bone diseases
Developmental anomalies during embryogenesis


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Summaries for Short Stature, Idiopathic, X-Linked

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OMIM : 58 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 iss, 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, testes and skeletal muscle, and related phenotypes are short neck and genu valgum

UniProtKB/Swiss-Prot : 76 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 21)
# Related Disease Score Top Affiliating Genes
1 pertussis 11.2
2 myeloma, multiple 10.4
3 rothmund-thomson syndrome 10.3
4 hepatitis 10.3
5 hepatitis b 10.3
6 insulin-like growth factor i 10.1
7 lymphoma 10.1
8 leri-weill dyschondrosteosis 9.9
9 renal cell carcinoma, nonpapillary 9.9
10 lymphoma, hodgkin, classic 9.9
11 orthostatic intolerance 9.9
12 lymphoma, non-hodgkin, familial 9.9
13 spondyloocular syndrome 9.9
14 barrett esophagus 9.9
15 arteriovenous fistula 9.9
16 follicular lymphoma 9.9
17 chlamydia 9.9
18 pleural empyema 9.9
19 influenza 9.9
20 growth hormone deficiency 9.9
21 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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Human phenotypes related to Short Stature, Idiopathic, X-Linked:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857
3 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
4 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
7 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
8 cubitus valgus 60 33 hallmark (90%) Very frequent (99-80%) HP:0002967
9 madelung deformity 60 33 hallmark (90%) Very frequent (99-80%) HP:0003067
10 skeletal muscle hypertrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003712
11 tibial bowing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002982
12 lower limb undergrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009816
13 forearm undergrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009821
14 ulnar radial head dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0005856
15 episodic ketoacidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005974
16 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513

Clinical features from OMIM:

300582
Sources

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 30 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:

42
Bone, Testes, Skeletal Muscle, Skin, Neutrophil, Endothelial
Sources

Publications for Short Stature, Idiopathic, X-Linked

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Articles related to Short Stature, Idiopathic, X-Linked:

(show top 50) (show all 242)
# Title Authors Year
1
Highlights of the special scientific sessions of the 45th Annual Scientific Meeting of the International Skeletal Society (ISS) 2018, Berlin, Germany. ( 30406833 )
2019
2
Limits of Life and the Habitability of Mars: The ESA Space Experiment BIOMEX on the ISS. ( 30742496 )
2019
3
Phosphotyrosine prodrugs: design, synthesis and anti-STAT3 activity of ISS-610 aryloxy triester phosphoramidate prodrugs. ( 30881608 )
2019
4
The beneficial effect of combined GH/GnRHa therapy in increasing adult height outcome in ISS children. ( 30912806 )
2019
5
CONTRIBUTION OF DIFFERENT PARTICLES MEASURED WITH TRACK ETCHED DETECTORS ONBOARD ISS. ( 29036726 )
2018
6
Highlights of the 44th Annual Scientific Congress of the International Skeletal Society (ISS) 2017, New York, New York. ( 29243143 )
2018
7
Complete Closed Genome Sequence of Nontoxigenic Invasive Corynebacterium diphtheriae bv. mitis Strain ISS 3319. ( 29437107 )
2018
8
Correction: A microbial survey of the International Space Station (ISS). ( 29498380 )
2018
9
Corrigendum to "A strategy for promoting astaxanthin accumulation in Haematococcus pluvialis by 1-aminocyclopropane-1-carboxylic acid application" [Journal of Biotechnology Vol. 236./Iss 20. (2016) 120-127.]. ( 29576061 )
2018
10
Evaluation of Revised International Staging System (R-ISS) for transplant-eligible multiple myeloma patients. ( 29623394 )
2018
11
Annual Scientific Meeting Abstracts of the International Skeletal Society (ISS) 2018, Berlin, Germany. ( 29876594 )
2018
12
Spinal metastases in multiple myeloma: A high-risk subgroup for ISS III patients. ( 29937188 )
2018
13
A new prognostic model for myeloma patients relapsing from upfront autologous transplantation based on ISS and PFS1. ( 29984833 )
2018
14
Adaptive Neural Tracking Control for Interconnected Switched Systems With Non-ISS Unmodeled Dynamics. ( 29993623 )
2018
15
A water-filled garment to protect astronauts during interplanetary missions tested on board the ISS. ( 30100142 )
2018
16
Self-Reported Skin Changes by a Selected Number of Astronauts after Long-Duration Mission on ISS as Part of the Skin B Project. ( 30485842 )
2018
17
Validation of trauma scales: ISS, NISS, RTS and TRISS for predicting mortality in a Colombian population. ( 27999959 )
2017
18
Comparison of ISS, NISS, and RTS score as predictor of mortality in pediatric fall. ( 28795055 )
2017
19
Three-dimensional growth of human endothelial cells in an automated cell culture experiment container during the SpaceX CRS-8 ISS space mission - The SPHEROIDS project. ( 28199884 )
2017
20
Major influence of interobserver reliability on polytrauma identification with the Injury Severity Score (ISS): Time for a centralised coding in trauma registries? ( 28262279 )
2017
21
ISS Symposium From Heartburn to Barrett's Esophagus, and Beyond. ( 28484815 )
2017
22
A hitchhiker's guide to an ISS experiment in under 9 months. ( 28649628 )
2017
23
Prognostic Validation of SKY92 and Its Combination With ISS in an Independent Cohort of Patients With Multiple Myeloma. ( 28735890 )
2017
24
Corrigendum to "Relationship of angiotensin I-converting enzyme (ACE) and bradykinin B2 receptor (BDKRB2) polymorphism with diabetic nephropathy" [BBA - Molecular Basis of Disease Vol.1863/Iss.6(2017) 1264-1272]. ( 28760261 )
2017
25
ISS observations offer insights into plant function. ( 28812587 )
2017
26
Locomotion Strategy and Magnitude of Ground Reaction Forces During Treadmill Training on ISS. ( 28818143 )
2017
27
Erratum: A hitchhiker's guide to an ISS experiment in under 9 months. ( 28828404 )
2017
28
Multifactorial examination of sex-differences in head injuries and concussions among collegiate soccer players: NCAA ISS, 2004-2009. ( 29067629 )
2017
29
One-Year Mission on ISS Is a Step Towards Interplanetary Missions. ( 29157338 )
2017
30
Using Modified-ISS Model to Evaluate Medication Administration Safety During Bar Code Medication Administration Implementation in Taiwan Regional Teaching Hospital. ( 29295449 )
2017
31
A microbial survey of the International Space Station (ISS). ( 29492330 )
2017
32
ISS 2017 Annual Meeting New York, New York. ( 30357500 )
2017
33
Assessment of Total Lesion Glycolysis by 18F FDG PET/CT Significantly Improves Prognostic Value of GEP and ISS in Myeloma. ( 27698001 )
2017
34
Can APACHE II, SOFA, ISS, and RTS Severity Scores be used to Predict Septic Complications in Multiple Trauma Patients? ( 29967850 )
2016
35
Development of visual peak selection system based on multi-ISs normalization algorithm to apply to methamphetamine impurity profiling. ( 27718476 )
2016
36
Bubble-detector measurements of neutron radiation in the international space station: ISS-34 to ISS-37. ( 25899609 )
2016
37
Comment on "Neutrophil to lymphocyte ratio improves the risk assessment of ISS staging in newly diagnosed MM patients treated upfront with novel agents". ( 26747295 )
2016
38
The Military Injury Severity Score (mISS): A better predictor of combat mortality than Injury Severity Score (ISS). ( 26958797 )
2016
39
Growth of 48 built environment bacterial isolates on board the International Space Station (ISS). ( 27019789 )
2016
40
ISS 2015 Annual meeting Maui, HI: scientific paper presentations. ( 27038975 )
2016
41
"iSS-Hyb-mRMR": Identification of splicing sites using hybrid space of pseudo trinucleotide and pseudo tetranucleotide composition. ( 27040827 )
2016
42
Validation of a self-reported HIV symptoms list: the ISS-HIV symptoms scale. ( 27064450 )
2016
43
ISS 2016 Annual meeting Paris, France: scientific paper presentations. ( 27129698 )
2016
44
Life science experiments performed in space in the ISS/Kibo facility and future research plans. ( 27130692 )
2016
45
Performance Assessment in the PILOT Experiment On Board Space Stations Mir and ISS. ( 27208676 )
2016
46
High dose rates obtained outside ISS in June 2015 during SEP event. ( 27345205 )
2016
47
Exercise in space: the European Space Agency approach to in-flight exercise countermeasures for long-duration missions on ISS. ( 27489615 )
2016
48
Deployment of precise and robust sensors on board ISS-for scientific experiments and for operation of the station. ( 27526089 )
2016
49
Vortices in Saturn's Northern Hemisphere (2008-2015) Observed by Cassini ISS. ( 29629249 )
2016
50
LDH is an adverse prognostic factor independent of ISS in transplant-eligible myeloma patients receiving bortezomib-based induction regimens. ( 25135740 )
2015
Sources

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 73)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh38 Chromosome X, 624528: 624528
2 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh37 Chromosome X, 585263: 585263
3 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh38 Chromosome Y, 624528: 624528
4 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh37 Chromosome Y, 535263: 535263
5 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh37 Chromosome X, 585258: 585258
6 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh38 Chromosome X, 624523: 624523
7 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh38 Chromosome Y, 624523: 624523
8 SHOX NM_000451.3(SHOX): c.-512C> A single nucleotide variant Pathogenic rs113313554 GRCh37 Chromosome Y, 535258: 535258
9 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs1556450972 GRCh37 Chromosome X, 585124: 585125
10 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs1556450972 GRCh38 Chromosome X, 624389: 624390
11 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs1556450972 GRCh38 Chromosome Y, 624389: 624390
12 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs1556450972 GRCh37 Chromosome Y, 535124: 535125
13 SHOX NM_000451.3(SHOX): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs137852552 GRCh37 Chromosome X, 601772: 601772
14 SHOX NM_000451.3(SHOX): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs137852552 GRCh38 Chromosome X, 641037: 641037
15 SHOX NM_000451.3(SHOX): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs137852552 GRCh38 Chromosome Y, 641037: 641037
16 SHOX NM_000451.3(SHOX): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs137852552 GRCh37 Chromosome Y, 551772: 551772
17 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh37 Chromosome X, 601586: 601586
18 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh38 Chromosome X, 640851: 640851
19 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh38 Chromosome Y, 640851: 640851
20 SHOX NM_000451.3(SHOX): c.517C> T (p.Arg173Cys) single nucleotide variant Pathogenic rs137852556 GRCh37 Chromosome Y, 551586: 551586
21 SHOX NM_000451.3(SHOX): c.279G> T (p.Gly93=) single nucleotide variant Likely benign rs193922465 GRCh38 Chromosome X, 634619: 634619
22 SHOX NM_000451.3(SHOX): c.279G> T (p.Gly93=) single nucleotide variant Likely benign rs193922465 GRCh37 Chromosome X, 595354: 595354
23 SHOX NM_000451.3(SHOX): c.279G> T (p.Gly93=) single nucleotide variant Likely benign rs193922465 GRCh37 Chromosome Y, 545354: 545354
24 SHOX NM_000451.3(SHOX): c.279G> T (p.Gly93=) single nucleotide variant Likely benign rs193922465 GRCh38 Chromosome Y, 634619: 634619
25 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh37 Chromosome X, 595422: 595422
26 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh38 Chromosome X, 634687: 634687
27 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh37 Chromosome Y, 545422: 545422
28 SHOX NM_000451.3(SHOX): c.347A> G (p.Lys116Arg) single nucleotide variant Likely pathogenic rs193922466 GRCh38 Chromosome Y, 634687: 634687
29 SHOX NM_000451.3(SHOX): c.400C> A (p.Arg134=) single nucleotide variant Benign/Likely benign rs193922467 GRCh37 Chromosome X, 595475: 595475
30 SHOX NM_000451.3(SHOX): c.400C> A (p.Arg134=) single nucleotide variant Benign/Likely benign rs193922467 GRCh38 Chromosome X, 634740: 634740
31 SHOX NM_000451.3(SHOX): c.400C> A (p.Arg134=) single nucleotide variant Benign/Likely benign rs193922467 GRCh38 Chromosome Y, 634740: 634740
32 SHOX NM_000451.3(SHOX): c.400C> A (p.Arg134=) single nucleotide variant Benign/Likely benign rs193922467 GRCh37 Chromosome Y, 545475: 545475
33 SHOX NM_000451.3(SHOX): c.63C> T (p.Gly21=) single nucleotide variant Benign/Likely benign rs142306835 GRCh37 Chromosome X, 591695: 591695
34 SHOX NM_000451.3(SHOX): c.63C> T (p.Gly21=) single nucleotide variant Benign/Likely benign rs142306835 GRCh38 Chromosome X, 630960: 630960
35 SHOX NM_000451.3(SHOX): c.63C> T (p.Gly21=) single nucleotide variant Benign/Likely benign rs142306835 GRCh38 Chromosome Y, 630960: 630960
36 SHOX NM_000451.3(SHOX): c.63C> T (p.Gly21=) single nucleotide variant Benign/Likely benign rs142306835 GRCh37 Chromosome Y, 541695: 541695
37 SHOX SHOX, 47.5-KB DEL, DOWNSTREAM ENHANCER deletion Pathogenic
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
Sources

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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