MCID: SHR002
MIFTS: 64

Short Stature malady

Genetic diseases, Endocrine diseases, Rare diseases categories

Summaries for Short Stature

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Short stature refers to a height of a human being which is below typical. Whether a person is considered... more...

MalaCards: Short Stature, also known as short stature due to growth hormone secretagogue receptor deficiency, is related to growth hormone deficiency and turner syndrome. An important gene associated with Short Stature is GHSR (growth hormone secretagogue receptor), and among its related pathways are Growth hormone receptor signaling and Endochondral Ossification. The compounds mk-0677 and somatuline have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and skin, and related mouse phenotypes are adipose tissue and behavior/neurological.

Description from OMIM:48 604271

Aliases & Classifications for Short Stature

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48OMIM, 46Novoseek, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


Characteristics (Orphanet epidemiological data):

50
short stature due to growth hormone secretagogue receptor deficiency:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

short stature 48 46
short stature due to growth hormone secretagogue receptor deficiency 50
short stature due to partial growth hormone receptor deficiency 50
short stature due to partial ghr deficiency 50
short stature due to ghsr deficiency 50


External Ids:

OMIM48 604271
ICD10 via Orphanet27 E34.3

Related Diseases for Short Stature

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18GeneCards, 19GeneDecks
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Diseases in the Short Stature family:

Shox-Related Short Stature

Diseases related to Short Stature via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 1130)
idRelated DiseaseScoreTop Affiliating Genes
1growth hormone deficiency31.0IGF1, HESX1, GHR, GHRHR, GH1, GHSR
2turner syndrome30.8IGF1, SHOX, GHR, GH1
3floating-harbor syndrome30.7SRCAP
4hypochondroplasia30.6SHOX
5laron syndrome30.6GH1, GHR, IGF1
6prader-willi syndrome30.6IGF1, GH1, GHSR
7noonan syndrome30.6IGF1, GHR
8obesity30.4IGF1, HESX1, GHR, GH1, GHSR, CTSK
9dwarfism30.4IGF1, SHOX, ACAN, GHR, GHRHR, GH1
10pycnodysostosis30.3CTSK
11skeletal dysplasias30.2SHOX, ACAN, RMRP, CTSK
12panhypopituitarism30.2GH1, GHR, HESX1, IGF1
13insulin-like growth factor i deficiency30.2IGF1, GHR
14precocious puberty30.2GH1, GHR, IGF1
15hypoglycemia30.1IGF1, GHR, GH1
16schimke immunoosseous dysplasia30.1IGF1
17hypopituitarism30.1IGF1, HESX1, GHR, GH1
18partial isolated growth hormone deficiency30.0GHR, GHSR
19isolated growth hormone deficiency type 1b30.0GHRHR, GH1
20hypothyroidism30.0IGF1, HESX1, GHR, GHRHR, GH1, GHSR
21rabson-mendenhall syndrome30.0IGF1
22empty sella syndrome30.0IGF1, GH1
23anorexia nervosa29.9IGF1, GHR, GH1
24septo-optic dysplasia29.9HESX1, GH1
25mental retardation10.8
26microcephaly10.7
27brachydactyly10.6
28short syndrome10.5
29leri weill dyschondrosteosis10.5
30intellectual disability10.4
31deafness, epiphyseal dysplasia, short stature10.4
32celiac disease10.4
33multiple epiphyseal dysplasia10.4
343-m syndrome10.4
35blepharophimosis with ptosis, syndactyly, and short stature10.4
36cleft palate10.4
37myhre syndrome10.4
38isolated growth hormone deficiency10.4
39kbg syndrome10.3
40gonadal dysgenesis10.3
41extrasystoles short stature hyperpigmentation microcephaly10.3
42finger locking recurrent with intrauterine growth retardation and proportionate short stature10.3
43mastocytosis cutaneous with short stature conductive hearing loss and microtia10.3
44meier-gorlin syndrome10.3
45radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.3
46short stature syndrome, brussels type10.3
47short stature wormian bones dextrocardia10.3
48subaortic stenosis short stature syndrome10.3
49hypogonadism10.3
50cataracts, ataxia, short stature, and mental retardation10.3

Graphical network of the top 20 diseases related to Short Stature:



Diseases related to short stature

Symptoms for Short Stature

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48OMIM
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Symptoms by clinical synopsis from OMIM:

604271

Clinical features from OMIM:

604271

Drugs & Therapeutics for Short Stature

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Short Stature

Drug clinical trials:

Search ClinicalTrials for Short Stature

Search NIH Clinical Center for Short Stature

Search CenterWatch for Short Stature

Genetic Tests for Short Stature

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Anatomical Context for Short Stature

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34MalaCards
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MalaCards organs/tissues related to Short Stature:

34
Bone, Testes, Skin, Heart, Pituitary, Kidney, Thyroid, Testis, Eye, T cells

Animal Models for Short Stature or affiliated genes

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38MGI
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Publications for Short Stature

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53PubMed
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Articles related to Short Stature:

(show top 50)    (show all 855)
idTitleAuthorsYear
1
Comparative proteomic analysis in children with idiopathic short stature (ISS) before and after short-term recombinant human growth hormone (rhGH) therapy. (23436750)
2013
2
Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System. (24335034)
2013
3
Human Growth Hormone Induced Cholestatic Hepatitis in a Growth Hormone Deficient Patient with Short Stature. (24359565)
2013
4
A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism. (22555342)
2012
5
Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. (22486325)
2012
6
A polymorphism in the leptin receptor gene at position 223 is associated with growth hormone replacement therapy responsiveness in idiopathic short stature and growth hormone deficiency patients. (23009903)
2012
7
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. (22840363)
2012
8
Short stature is an independent risk marker for mortality and incident coronary heart disease only in women: a structural relationship? (22466360)
2012
9
Functional analysis of conserved non-coding regions around the short stature hox gene (shox) in whole zebrafish embryos. (21731768)
2011
10
Review of growth hormone randomized controlled trials in children with idiopathic short stature. (21912163)
2011
11
Metabolic benefits of growth hormone therapy in idiopathic short stature. (21912170)
2011
12
Impact of growth hormone therapy on adult height of children with idiopathic short stature: systematic review. (21398350)
2011
13
Nail-patella syndrome associated with short stature: a case series. (20811572)
2010
14
Short stature and catch-up growth in celiac disease. (21088537)
2010
15
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax. (19291773)
2009
16
Short stature, celiac disease and growth hormone deficiency. (20020588)
2009
17
Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. (19578035)
2009
18
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. (19836009)
2009
19
Sizes of abdominal organs in adults with severe short stature due to severe, untreated, congenital GH deficiency caused by a homozygous mutation in the GHRH receptor gene. (18034778)
2008
20
Ruptured aneurysm of the sinus of Valsalva with Wildervanck syndrome (cervico-oculo-acoustic syndrome), blepharoptosis and short stature: case report. (17721033)
2007
21
Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature. (17028440)
2007
22
Evaluation of an insulin-like growth factor I-based growth hormone dosing regimen for children with short stature. (17667897)
2007
23
Age at growth hormone therapy start and first-year responsiveness to growth hormone are major determinants of height outcome in idiopathic short stature. (17228181)
2007
24
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. (17201812)
2007
25
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
2006
26
Short stature in patients with 45,X/46,XY mosaicism: report of three cases. (17407984)
2006
27
Safety of growth hormone treatment in pediatric patients with idiopathic short stature. (15899952)
2005
28
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. (16227037)
2005
29
Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly. (16080296)
2005
30
Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome. (15809993)
2005
31
Childhood growth hormone deficiency (GHD) and idiopathic short stature (ISS): how far can a consensus go? (15116947)
2004
32
Brachydactyly and short stature in a kindred with early-onset parkinsonism. (15368505)
2004
33
Quantitative calcaneal ultrasound parameters and bone mineral density at final height in girls treated with depot gonadotrophin-releasing hormone agonist for central precocious puberty or idiopathic short stature. (13680381)
2003
34
The surgical treatment of short stature: management strategy and local experience. (17679874)
2002
35
Insulin resistance (HOMA) in relation to plasma cortisol, IGF-I and IGFBP-3. A study in normal short-statured and GH-deficient children. (12401942)
2002
36
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. (12362035)
2002
37
46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. (11223846)
2001
38
Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. (10678654)
2000
39
Growth hormone therapy and children with idiopathic short stature: a viable option? (12024388)
1999
40
Allelic variations of the D2 dopamine receptor gene in children with idiopathic short stature. (9929973)
1999
41
A dominant-negative mutation of the growth hormone receptor causes familial short stature. (9140387)
1997
42
Serum growth hormone-binding protein is decreased in prepubertal children with idiopathic short stature. (8844453)
1996
43
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). (8558568)
1995
44
Evidence for partial growth hormone insensitivity among patients with idiopathic short stature. The National Cooperative Growth Study. (7636649)
1995
45
Reduced concentration of serum growth hormone-binding protein in children with idiopathic short stature. National Cooperative Growth Study. (8200933)
1994
46
Characteristics of children with idiopathic short stature in the Kabi Pharmacia International Growth Study, and their response to growth hormone treatment. International Board of the Kabi Pharmacia International Growth Study. (8219481)
1993
47
The effects of l-dopa administration on the prolactin levels in short-stature subjects]. (1518496)
1992
48
Comparison of growth and somatomedin C responses following growth hormone treatment in children with small-for-date short stature, significant idiopathic short stature and hypopituitarism. (6539552)
1984
49
Bilateral microcornea, coloboma, short stature and other skeletal anomalies - a new hereditary syndrome. (974245)
1976
50
Dermatoglyphics in patients with a syndrome of brachydactyly, short stature and hypertension. (4805188)
1973

Variations for Short Stature

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Short Stature:

65
id Symbol AA change Variation ID SNP ID
1GHRp.Glu62LysVAR_002708
2GHRp.Arg179CysVAR_002714rs121909362
3GHSRp.Ala204GluVAR_032705

Clinvar genetic disease variations for Short Stature:

1
id Gene Name Type Significance SNP ID Assembly Location
1GHSRNM_198407.2(GHSR): c.611C> A (p.Ala204Glu)single nucleotide variantPathogenicrs121917883GRCh37Chr 3, 172165593: 172165593
2GHSRNM_198407.2(GHSR): c.6G> A (p.Trp2Ter)single nucleotide variantPathogenicrs267606843GRCh37Chr 3, 172166198: 172166198
3GHSRNM_198407.2(GHSR): c.709A> T (p.Arg237Trp)single nucleotide variantPathogenicrs199588904GRCh37Chr 3, 172165495: 172165495
4GHRNM_000163.4(GHR): c.184G> A (p.Glu62Lys)single nucleotide variantPathogenicrs121909361GRCh37Chr 5, 42689039: 42689039
5GHRNM_000163.4(GHR): c.535C> T (p.Arg179Cys)single nucleotide variantPathogenicrs121909362GRCh37Chr 5, 42700021: 42700021
6GHRNM_000163.4(GHR): c.726G> C (p.Glu242Asp)single nucleotide variantPathogenicrs45588036GRCh37Chr 5, 42711416: 42711416
7GHRGHR, IVS8AS, G-C, -1single nucleotide variantPathogenic
8GHRNM_000163.4(GHR): c.484G> A (p.Val162Ile)single nucleotide variantPathogenicrs6413484GRCh37Chr 5, 42699970: 42699970

Expression for genes affiliated with Short Stature

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Short Stature

Search GEO for disease gene expression data for Short Stature.

Pathways for genes affiliated with Short Stature

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51PathCards, 56Reactome, 39NCBI BioSystems Database
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Pathways related to Short Stature according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1GH1, GHR
29.1GH1, GHR, ACAN, IGF1

Compounds for genes affiliated with Short Stature

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46Novoseek, 30IUPHAR, 12DrugBank, 52PharmGKB, 25HMDB, 3BitterDB, 62Tocris Bioscience
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Compounds related to Short Stature according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1mk-067746 3011.1GHSR, IGF1
2somatuline4610.0IGF1, GH1
3quinagolide4610.0GH1, IGF1
4oxandrolone46 1211.0IGF1, GH1
5pyridostigmine46 1210.9IGF1, GH1
6acipimox46 3010.9GH1, IGF1
7pirenzepine46 30 1211.9GH1, IGF1
8clomiphene citrate469.9GH1, IGF1
9pegvisomant46 1210.9GH1, GHR, IGF1
10leuprolide acetate469.9IGF1, GHR, GH1
11naltrexone46 30 52 1212.8GH1, IGF1
12cabergoline46 30 1211.8GH1, GHR, IGF1
13bromocriptine46 30 1211.8GH1, GHR, IGF1
14dehydroepiandrosterone sulfate469.8GH1, GHR, IGF1
15clonidine46 52 30 1212.8IGF1, GHR, GH1
16c-peptide469.8GH1, GHR, IGF1
17triiodothyronine469.8GH1, GHR, IGF1
18cortisone46 2510.8GH1, IGF1
19androstenedione46 2510.8IGF1, GHR, GH1
20levodopa46 1210.8GH1, GHR, IGF1
21hydrocortisone46 3 62 1212.8GHSR, GH1, IGF1
22dihydrotestosterone46 30 25 1212.7IGF1, GHR, GH1
23pyridinoline469.7GH1, IGF1
24thyroxine46 2510.7IGF1, GHR, GH1
25lanreotide46 3010.7IGF1, GHR, GH1, GHSR
26octreotide46 62 30 1212.7GHSR, GH1, GHR, IGF1
27forskolin46 52 1211.6GHRHR, GH1, GHSR, NPR2
28deoxypyridinoline469.6GH1, IGF1
29estradiol46 25 1211.6GHSR, GH1, GHR, IGF1
30leucine469.5ACAN, GHRHR, GH1, CTSK
31dopamine46 30 25 1212.5GHSR, GH1, GHR, IGF1
32procollagen469.5IGF1, ACAN, GHR, GH1
33ghrp469.4GHSR, GH1, GHRHR, GHR, IGF1
34hexarelin46 3010.4IGF1, GHR, GHRHR, GH1, GHSR
35vitamin d469.4GH1, GHR, ACAN, IGF1
36ribonucleic acid469.4IGF1, GHR, GHRHR, GH1, GHSR
37steroid469.4IGF1, SHOX, GHR, GH1, GHSR
38gnrh469.4IGF1, HESX1, GHR, GH1
39arginine469.3IGF1, GHR, GHRHR, GH1, GHSR
40estrogen469.2IGF1, SHOX, GHR, GH1, GHSR
41acth469.2IGF1, HESX1, GHR, GH1, GHSR
42calcitriol46 62 25 1212.1GH1, GHR, IGF1
43retinoic acid46 259.9IGF1, ACAN, GHR, GH1, CTSK
44glucose468.9IGF1, GHR, GHRHR, GH1, GHSR
45dexamethasone46 52 30 1211.5IGF1, ACAN, GHR, GHRHR, GH1, GHSR
46serine468.5IGF1, GHR, GH1, GHSR, NPR2, CTSK

GO Terms for genes affiliated with Short Stature

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17Gene Ontology
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Cellular components related to Short Stature according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058867.8NPR2, GHSR, GHRHR, GHR, ANKRD11, CUL4B

Biological processes related to Short Stature according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1growth hormone secretionGO:03025210.3GHSR, GHRHR
2growth hormone receptor signaling pathwayGO:06039610.3GH1, GHR
3response to foodGO:03209410.3GHSR, GHR
4hormone-mediated signaling pathwayGO:00975510.2GHR, GHSR
5cellular response to insulin stimulusGO:03286910.1GHSR, GHRHR, GHR
6JAK-STAT cascade involved in growth hormone signaling pathwayGO:06039710.1GH1, GHR
7positive regulation of tyrosine phosphorylation of Stat3 proteinGO:04251710.1GHR, GH1
8positive regulation of multicellular organism growthGO:0400189.9GHR, GHRHR, GH1, GHSR
9water homeostasisGO:0301049.9GHRHR, IGF1
10chondroitin sulfate proteoglycan biosynthetic processGO:0506509.8IGF1, B3GAT3
11insulin-like growth factor receptor signaling pathwayGO:0480099.8GHR, IGF1
12JAK-STAT cascadeGO:0072599.8GHR, GH1
13positive regulation of tyrosine phosphorylation of Stat5 proteinGO:0425239.7GH1, GHR, IGF1
14positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.7IGF1, GHR, GH1
15cartilage development involved in endochondral bone morphogenesisGO:0603519.7SHOX2, GHR
16bone developmentGO:0603489.7NPR2, ANKRD11
17regulation of multicellular organism growthGO:0400149.6IGF1, GHR
18positive regulation of insulin-like growth factor receptor signaling pathwayGO:0435689.5GHSR, GH1, GHRHR, IGF1
19skeletal system developmentGO:0015018.8IGF1, SHOX, SHOX2, ACAN

Molecular functions related to Short Stature according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1growth factor bindingGO:01983810.0GHRHR, GHR
2growth hormone-releasing hormone receptor activityGO:0165209.7GHSR, GHRHR
3peptide hormone bindingGO:0170469.2NPR2, GHSR, GHRHR, GHR

Products for genes affiliated with Short Stature

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Sources for Short Stature

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet