ISS
MCID: SHR108
MIFTS: 34

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 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:



Summaries for Short Stature, Idiopathic, X-Linked

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 myeloma, multiple and rothmund-thomson syndrome. An important gene associated with Short Stature, Idiopathic, X-Linked is SHOX (Short Stature Homeobox). Affiliated tissues include bone, skeletal muscle and testes, 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.

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 22)
# Related Disease Score Top Affiliating Genes
1 myeloma, multiple 10.5
2 rothmund-thomson syndrome 10.3
3 hepatitis 10.3
4 hepatitis b 10.3
5 insulin-like growth factor i 10.1
6 lymphoma 10.1
7 leri-weill dyschondrosteosis 9.9
8 renal cell carcinoma, nonpapillary 9.9
9 lymphoma, hodgkin, classic 9.9
10 salla disease 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 obstructive nephropathy 9.9
18 chlamydia 9.9
19 pleural empyema 9.9
20 influenza 9.9
21 growth hormone deficiency 9.9
22 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

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

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 30 SHOX

Anatomical Context for Short Stature, Idiopathic, X-Linked

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

42
Bone, Skeletal Muscle, Testes, Skin, Neutrophil, Bone Marrow, B Cells

Publications for Short Stature, Idiopathic, X-Linked

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

(show top 50) (show all 296)
# Title Authors Year
1
A new prognostic model for myeloma patients relapsing from upfront autologous transplantation based on ISS and PFS1. ( 29984833 )
2019
2
Adaptive Neural Tracking Control for Interconnected Switched Systems With Non-ISS Unmodeled Dynamics. ( 29993623 )
2019
3
Highlights of the special scientific sessions of the 45th Annual Scientific Meeting of the International Skeletal Society (ISS) 2018, Berlin, Germany. ( 30406833 )
2019
4
Self-Reported Skin Changes by a Selected Number of Astronauts after Long-Duration Mission on ISS as Part of the Skin B Project. ( 30485842 )
2019
5
Limits of Life and the Habitability of Mars: The ESA Space Experiment BIOMEX on the ISS. ( 30742496 )
2019
6
Phosphotyrosine prodrugs: design, synthesis and anti-STAT3 activity of ISS-610 aryloxy triester phosphoramidate prodrugs. ( 30881608 )
2019
7
The beneficial effect of combined GH/GnRHa therapy in increasing adult height outcome in ISS children. ( 30912806 )
2019
8
Calculated Decisions: Injury Severity Score (ISS) ( 31039301 )
2019
9
Comparison of injury severity scores (ISS) obtained by manual coding versus "Two-step conversion" from ICD-9-CM. ( 31042768 )
2019
10
Evaluation of the Revised International Staging System (R-ISS) in Japanese patients with multiple myeloma. ( 31049648 )
2019
11
Local sleep-like events during wakefulness and their relationship to decreased alertness in astronauts on ISS. ( 31069253 )
2019
12
Ray-tracing simulation of the radiation dose distribution on the surface of the spherical phantom of the MATROSHKA-R experiment onboard the ISS. ( 31101156 )
2019
13
Annual Meeting Abstracts of the International Skeletal Society (ISS) 2019, Vancouver, Canada. ( 31106389 )
2019
14
HPV and Chlamydia trachomatis coinfection in women with Pap smear abnormality: baseline data of the HPV Pathogen ISS study. ( 29932086 )
2018
15
CONTRIBUTION OF DIFFERENT PARTICLES MEASURED WITH TRACK ETCHED DETECTORS ONBOARD ISS. ( 29036726 )
2018
16
Highlights of the 44th Annual Scientific Congress of the International Skeletal Society (ISS) 2017, New York, New York. ( 29243143 )
2018
17
Complete Closed Genome Sequence of Nontoxigenic Invasive Corynebacterium diphtheriae bv. mitis Strain ISS 3319. ( 29437107 )
2018
18
Correction: A microbial survey of the International Space Station (ISS). ( 29498380 )
2018
19
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
20
Evaluation of Revised International Staging System (R-ISS) for transplant-eligible multiple myeloma patients. ( 29623394 )
2018
21
Annual Scientific Meeting Abstracts of the International Skeletal Society (ISS) 2018, Berlin, Germany. ( 29876594 )
2018
22
Spinal metastases in multiple myeloma: A high-risk subgroup for ISS III patients. ( 29937188 )
2018
23
A water-filled garment to protect astronauts during interplanetary missions tested on board the ISS. ( 30100142 )
2018
24
ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy. ( 28400976 )
2017
25
How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy. ( 28485722 )
2017
26
Validation of trauma scales: ISS, NISS, RTS and TRISS for predicting mortality in a Colombian population. ( 27999959 )
2017
27
Comparison of ISS, NISS, and RTS score as predictor of mortality in pediatric fall. ( 28795055 )
2017
28
iSS-PC: Identifying Splicing Sites via Physical-Chemical Properties Using Deep Sparse Auto-Encoder. ( 28811565 )
2017
29
ISS observations offer insights into plant function. ( 28812587 )
2017
30
Locomotion Strategy and Magnitude of Ground Reaction Forces During Treadmill Training on ISS. ( 28818143 )
2017
31
Erratum: A hitchhiker's guide to an ISS experiment in under 9 months. ( 28828404 )
2017
32
Frequency of iss and irp2 genes by PCR method in Escherichia coli isolated from poultry with colibacillosis in comparison with healthy chicken in poultry farms of Zabol, South East of Iran. ( 28865220 )
2017
33
Multifactorial examination of sex-differences in head injuries and concussions among collegiate soccer players: NCAA ISS, 2004-2009. ( 29067629 )
2017
34
One-Year Mission on ISS Is a Step Towards Interplanetary Missions. ( 29157338 )
2017
35
Author Correction: ISS observations offer insights into plant function. ( 29185517 )
2017
36
Using Modified-ISS Model to Evaluate Medication Administration Safety During Bar Code Medication Administration Implementation in Taiwan Regional Teaching Hospital. ( 29295449 )
2017
37
A microbial survey of the International Space Station (ISS). ( 29492330 )
2017
38
ISS 2017 Annual Meeting New York, New York. ( 30357500 )
2017
39
Assessment of Total Lesion Glycolysis by 18F FDG PET/CT Significantly Improves Prognostic Value of GEP and ISS in Myeloma. ( 27698001 )
2017
40
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
41
Major influence of interobserver reliability on polytrauma identification with the Injury Severity Score (ISS): Time for a centralised coding in trauma registries? ( 28262279 )
2017
42
ISS Symposium From Heartburn to Barrett's Esophagus, and Beyond. ( 28484815 )
2017
43
A hitchhiker's guide to an ISS experiment in under 9 months. ( 28649628 )
2017
44
Prognostic Validation of SKY92 and Its Combination With ISS in an Independent Cohort of Patients With Multiple Myeloma. ( 28735890 )
2017
45
ANMCO/ISS/AMD/ANCE/ARCA/FADOI/GICR-IACPR/SICI-GISE/SIBioC/SIC/SICOA/SID/SIF/SIMEU/SIMG/SIMI/SISA Joint Consensus Document on cholesterol and cardiovascular risk: diagnostic-therapeutic pathway in Italy. ( 28751833 )
2017
46
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
47
Dynamic contrast-enhanced magnetic resonance imaging parameters correlate with advanced revised-ISS and angiopoietin-1/angiopoietin-2 ratio in patients with multiple myeloma. ( 28766001 )
2017
48
Can APACHE II, SOFA, ISS, and RTS Severity Scores be used to Predict Septic Complications in Multiple Trauma Patients? ( 29967850 )
2016
49
Bubble-detector measurements of neutron radiation in the international space station: ISS-34 to ISS-37. ( 25899609 )
2016
50
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

Variations for Short Stature, Idiopathic, X-Linked

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.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs137852552 GRCh38 Chromosome X, 641037: 641037
2 SHOX NM_000451.3(SHOX): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs137852552 GRCh37 Chromosome X, 601772: 601772
3 SHOX NM_000451.3(SHOX): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs137852552 GRCh37 Chromosome Y, 551772: 551772
4 SHOX NM_000451.3(SHOX): c.583C> T (p.Arg195Ter) single nucleotide variant Pathogenic rs137852552 GRCh38 Chromosome Y, 641037: 641037
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 Y, 634619: 634619
10 SHOX NM_000451.3(SHOX): c.279G> T (p.Gly93=) single nucleotide variant Likely benign rs193922465 GRCh37 Chromosome Y, 545354: 545354
11 SHOX NM_000451.3(SHOX): c.279G> T (p.Gly93=) single nucleotide variant Likely benign rs193922465 GRCh37 Chromosome X, 595354: 595354
12 SHOX NM_000451.3(SHOX): c.279G> T (p.Gly93=) single nucleotide variant Likely benign rs193922465 GRCh38 Chromosome X, 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 GRCh37 Chromosome X, 585263: 585263
27 SHOX NM_000451.3(SHOX): c.-507G> C single nucleotide variant Pathogenic rs111549748 GRCh38 Chromosome X, 624528: 624528
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 rs1556450972 GRCh37 Chromosome X, 585124: 585125
35 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs1556450972 GRCh38 Chromosome X, 624389: 624390
36 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs1556450972 GRCh38 Chromosome Y, 624389: 624390
37 SHOX NM_000451.3(SHOX): c.-646_-645insTGT insertion Pathogenic rs1556450972 GRCh37 Chromosome Y, 535124: 535125
38 SHOX NM_000451.3(SHOX): c.*284_*285dupAG duplication Uncertain significance rs369390009 GRCh38 Chromosome X, 644920: 644921
39 SHOX NM_000451.3(SHOX): c.-372G> A single nucleotide variant Uncertain significance rs2239401 GRCh37 Chromosome X, 591261: 591261
40 SHOX NM_000451.3(SHOX): c.-372G> A single nucleotide variant Uncertain significance rs2239401 GRCh38 Chromosome X, 630526: 630526
41 SHOX NM_000451.3(SHOX): c.-372G> A single nucleotide variant Uncertain significance rs2239401 GRCh37 Chromosome Y, 541261: 541261
42 SHOX NM_000451.3(SHOX): c.-372G> A single nucleotide variant Uncertain significance rs2239401 GRCh38 Chromosome Y, 630526: 630526
43 SHOX NM_000451.3(SHOX): c.528G= (p.Glu176=) single nucleotide variant Uncertain significance rs778921118 GRCh38 Chromosome X, 640862: 640862
44 SHOX NM_000451.3(SHOX): c.528G= (p.Glu176=) single nucleotide variant Uncertain significance rs778921118 GRCh37 Chromosome X, 601597: 601597
45 SHOX NM_000451.3(SHOX): c.528G= (p.Glu176=) single nucleotide variant Uncertain significance rs778921118 GRCh38 Chromosome Y, 640862: 640862
46 SHOX NM_000451.3(SHOX): c.528G= (p.Glu176=) single nucleotide variant Uncertain significance rs778921118 GRCh37 Chromosome Y, 551597: 551597
47 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh38 Chromosome X, 640862: 640862
48 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh37 Chromosome X, 601597: 601597
49 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh38 Chromosome Y, 640862: 640862
50 SHOX NM_000451.3(SHOX): c.528G> C (p.Glu176Asp) single nucleotide variant Pathogenic rs778921118 GRCh37 Chromosome Y, 551597: 551597

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 EFO
18 ExPASy
20 FMA
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31 HGMD
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35 ICD10 via Orphanet
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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
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