ISS
MCID: SHR108
MIFTS: 31

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 72 29 6
Iss 57 72 17
Short Stature, Idiopathic Familial 57 13
Stature, Short, Idiopathic Familial 39
Shox-Related Short Stature 58

Characteristics:

Orphanet epidemiological data:

58
shox-related short stature
Age of onset: Infancy,Neonatal;

HPO:

31
short stature, idiopathic, x-linked:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 300582
MeSH 44 D004392
ICD10 via Orphanet 33 Q87.1
Orphanet 58 ORPHA314795
MedGen 41 C1845118
SNOMED-CT via HPO 68 237836003 263934009

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) (Updated 05-Apr-2021)

MalaCards based summary : Short Stature, Idiopathic, X-Linked, also known as iss, is related to shox-related short stature and leri-weill dyschondrosteosis. An important gene associated with Short Stature, Idiopathic, X-Linked is SHOX (Short Stature Homeobox). Affiliated tissues include skeletal muscle, and related phenotypes are short stature and scoliosis

UniProtKB/Swiss-Prot : 72 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 top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 shox-related short stature 31.9 SHOX LOC107652445
2 leri-weill dyschondrosteosis 28.9 SHOX LOC107652445
3 myeloma, multiple 10.4
4 spinal muscular atrophy 10.1
5 muscular atrophy 10.1
6 head injury 10.1
7 disease by infectious agent 10.0
8 hepatitis b 10.0
9 immune deficiency disease 9.9
10 insulin-like growth factor i 9.9
11 autosomal recessive cerebellar ataxia 9.9
12 growth hormone deficiency 9.9
13 alcohol dependence 9.8
14 cardiac arrhythmia 9.8
15 hypercholesterolemia, familial, 1 9.8
16 renal cell carcinoma, nonpapillary 9.8
17 ige responsiveness, atopic 9.8
18 motion sickness 9.8
19 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 9.8
20 papillomatosis, confluent and reticulated 9.8
21 lymphoma, hodgkin, classic 9.8
22 ocular motor apraxia 9.8
23 laron syndrome 9.8
24 ataxia and polyneuropathy, adult-onset 9.8
25 orthostatic intolerance 9.8
26 lymphoma, non-hodgkin, familial 9.8
27 human immunodeficiency virus type 1 9.8
28 microvascular complications of diabetes 3 9.8
29 microvascular complications of diabetes 4 9.8
30 microvascular complications of diabetes 6 9.8
31 microvascular complications of diabetes 7 9.8
32 barrett esophagus 9.8
33 exanthem 9.8
34 follicular lymphoma 9.8
35 lymphoma 9.8
36 bone resorption disease 9.8
37 brucellosis 9.8
38 chlamydia 9.8
39 cardiovascular system disease 9.8
40 gonadal dysgenesis 9.8
41 vascular disease 9.8
42 post-traumatic stress disorder 9.8
43 hepatitis 9.8
44 hemopneumothorax 9.8
45 skin atrophy 9.8
46 severe acute respiratory syndrome 9.8
47 acute kidney failure 9.8
48 complex regional pain syndrome 9.8
49 turner syndrome 9.8
50 pleural empyema 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

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

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 Very frequent (99-80%) HP:0004322
2 scoliosis 58 Very frequent (99-80%)
3 high palate 58 Very frequent (99-80%)
4 short neck 58 Very frequent (99-80%)
5 genu valgum 58 Very frequent (99-80%)
6 cubitus valgus 58 Very frequent (99-80%)
7 micrognathia 58 Very frequent (99-80%)
8 obesity 58 Frequent (79-30%)
9 madelung deformity 58 Very frequent (99-80%)
10 skeletal muscle hypertrophy 58 Very frequent (99-80%)
11 short foot 58 Very frequent (99-80%)
12 tibial bowing 58 Very frequent (99-80%)
13 lower limb undergrowth 58 Very frequent (99-80%)
14 forearm undergrowth 58 Very frequent (99-80%)
15 ulnar radial head dislocation 58 Very frequent (99-80%)
16 episodic ketoacidosis 58 Very frequent (99-80%)

Clinical features from OMIM®:

300582 (Updated 05-Apr-2021)

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:

40
Skeletal Muscle

Publications for Short Stature, Idiopathic, X-Linked

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

(show all 21)
# Title Authors PMID Year
1
Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. 57 6
22791839 2012
2
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. 6 57
11889216 2002
3
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. 6 57
9140395 1997
4
Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. 57
19578035 2009
5
Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. 57
17200153 2007
6
Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. 57
17047016 2007
7
Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens. 6
15118270 2004
8
Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. 57
14557470 2003
9
Deletion of the SHOX gene in patients with short stature of unknown cause. 57
12784295 2003
10
A whole-genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature. 57
12400063 2002
11
Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature. 57
9916840 1999
12
FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. 57
9254856 1997
13
PHOG, a candidate gene for involvement in the short stature of Turner syndrome. 57
9259282 1997
14
Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). 57
8558568 1995
15
Chromosomal localisation of a pseudoautosomal growth gene(s). 57
1404292 1992
16
Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. 57
1640423 1992
17
Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. 57
1897527 1991
18
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. 57
2602357 1989
19
The role of Yp in sex determination: new evidence from X/Y translocations. 57
6954848 1982
20
Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin. 61
27994182 2016
21
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. 61
10749976 2000

Variations for Short Stature, Idiopathic, X-Linked

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

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SHOX NC_000024.9:g.730550_778092del Deletion Pathogenic 66087 GRCh37:
GRCh38:
2 SHOX NM_000451.3(SHOX):c.583C>T (p.Arg195Ter) SNV Pathogenic 9872 rs137852552 GRCh37: X:601772-601772
GRCh38: X:641037-641037
3 SHOX NM_000451.3(SHOX):c.-646_-645insTGT Insertion Pathogenic 191363 rs1556450972 GRCh37: Y:535123-535124
GRCh38: X:624388-624389
4 SHOX NM_000451.3(SHOX):c.528G>C (p.Glu176Asp) SNV Pathogenic 265858 rs778921118 GRCh37: Y:551597-551597
GRCh38: X:640862-640862
5 SHOX NM_000451.3(SHOX):c.544+1G>A SNV Pathogenic 374328 rs1057518701 GRCh37: Y:551614-551614
GRCh38: X:640879-640879
6 LOC107652445 , SHOX NM_000451.3(SHOX):c.479G>A (p.Arg160His) SNV Likely pathogenic 635523 rs1159449478 GRCh37: Y:545554-545554
GRCh38: Y:634819-634819
7 LOC107652445 , SHOX NM_000451.3(SHOX):c.347A>G (p.Lys116Arg) SNV Likely pathogenic 36774 rs193922466 GRCh37: X:595422-595422
GRCh38: Y:634687-634687
8 SHOX NM_000451.3(SHOX):c.-19G>A SNV Likely pathogenic 933226 rs201157428 GRCh37: X:591614-591614
GRCh38: X:630879-630879
9 LOC107652445 , SHOX NM_000451.3(SHOX):c.349C>T (p.Gln117Ter) SNV Likely pathogenic 983025 GRCh37: X:595424-595424
GRCh38: X:634689-634689
10 SHOX NM_000451.3(SHOX):c.49A>T (p.Lys17Ter) SNV Likely pathogenic 973779 GRCh37: X:591681-591681
GRCh38: X:630946-630946
11 SHOX NM_000451.3(SHOX):c.-507G>C SNV Conflicting interpretations of pathogenicity 191361 rs111549748 GRCh37: X:585263-585263
GRCh38: Y:624528-624528
12 SHOX NM_000451.3(SHOX):c.-512C>A SNV Conflicting interpretations of pathogenicity 191362 rs113313554 GRCh37: X:585258-585258
GRCh38: X:624523-624523
13 SHOX NM_000451.3(SHOX):c.86A>C (p.Lys29Thr) SNV Uncertain significance 93095 rs146304983 GRCh37: Y:541718-541718
GRCh38: X:630983-630983
14 SHOX NM_006883.2(SHOX):c.676T>C (p.Ter226Arg) SNV Uncertain significance 803710 rs778160013 GRCh37: X:619562-619562
GRCh38: X:658827-658827
15 SHOX NM_000451.3(SHOX):c.803A>G (p.Lys268Arg) SNV Uncertain significance 397603 rs1060499711 GRCh37: X:605295-605295
GRCh38: X:644560-644560
16 SHOX NM_000451.3(SHOX):c.236A>T (p.Lys79Met) SNV Uncertain significance 496584 rs1556457962 GRCh37: Y:541868-541868
GRCh38: X:631133-631133
17 SHOX NM_000451.3(SHOX):c.-372G>A SNV Uncertain significance 265856 rs2239401 GRCh37: X:591261-591261
GRCh38: X:630526-630526
18 SHOX NM_000451.3(SHOX):c.*41C>A SNV Uncertain significance 265859 rs749355015 GRCh37: Y:555412-555412
GRCh38: X:644677-644677
19 SHOX NM_000451.3(SHOX):c.*284_*285dup Duplication Uncertain significance 265860 rs369390009 GRCh37: X:605654-605655
GRCh38: X:644919-644920
20 SHOX NM_000451.3(SHOX):c.528= (p.Glu176=) SNV Uncertain significance 265857 rs778921118 GRCh37: Y:551597-551597
GRCh38: X:640862-640862
21 SHOX NM_000451.3(SHOX):c.-65C>A SNV Uncertain significance 992440 GRCh37: X:591568-591568
GRCh38: X:630833-630833
22 SHOX NM_000451.3(SHOX):c.544+10G>A SNV Uncertain significance 992441 GRCh37: X:601623-601623
GRCh38: X:640888-640888
23 LOC107652445 , SHOX NM_000451.3(SHOX):c.400C>A (p.Arg134=) SNV Likely benign 36775 rs193922467 GRCh37: Y:545475-545475
GRCh38: X:634740-634740
24 LOC107652445 , SHOX NM_000451.3(SHOX):c.279G>T (p.Gly93=) SNV Likely benign 36773 rs193922465 GRCh37: X:595354-595354
GRCh38: X:634619-634619
25 SHOX NM_000451.3(SHOX):c.-649C>G SNV Likely benign 265992 rs886039879 GRCh37: Y:535121-535121
GRCh38: Y:624386-624386
26 SHOX NM_000451.3(SHOX):c.63C>T (p.Gly21=) SNV not provided 36776 rs142306835 GRCh37: X:591695-591695
GRCh38: X:630960-630960

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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