MCID: SHR002
MIFTS: 68

Short Stature malady

Genetic diseases, Endocrine diseases, Rare diseases categories
Download this MalaCard

Summaries for Short Stature

About this section


Fully expand this MalaCard
Wikipedia:65 Short stature refers to a height of a human being which is below typical. Whether a person is considered... more...

MalaCards based summary: Short Stature, also known as short stature due to growth hormone secretagogue receptor deficiency, is related to floating-harbor syndrome and hypochondroplasia, and has symptoms including 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 drugs growth hormone and somatrem and 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:46 604271

Aliases & Classifications for Short Stature

About this section
Sources:
46OMIM, 44Novoseek, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
See all sources

Short Stature, Aliases & Descriptions:

Name: Short Stature 46 44 62
Short Stature Due to Growth Hormone Secretagogue Receptor Deficiency 48
Short Stature Due to Partial Growth Hormone Receptor Deficiency 48
 
Short Stature Due to Partial Ghr Deficiency 48
Short Stature Due to Ghsr Deficiency 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
short stature due to growth hormone secretagogue receptor deficiency:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 604271
ICD10 via Orphanet26 E34.3

Related Diseases for Short Stature

About this section

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 1134)
idRelated DiseaseScoreTop Affiliating Genes
1floating-harbor syndrome31.3SRCAP
2hypochondroplasia31.2SHOX
3turner syndrome31.0IGF1, SHOX, GHR, GH1
4noonan syndrome30.9IGF1, GHR
5laron syndrome30.9GH1, GHR, IGF1
6pycnodysostosis30.9CTSK
7prader-willi syndrome30.8IGF1, GH1, GHSR
8growth hormone deficiency30.8IGF1, HESX1, GHR, GHRHR, GH1, GHSR
9insulin-like growth factor i deficiency30.6IGF1, GHR
10isolated growth hormone deficiency type 1b30.5GHRHR, GH1
11schimke immunoosseous dysplasia30.5IGF1
12rabson-mendenhall syndrome30.5IGF1
13precocious puberty30.4GH1, GHR, IGF1
14hypoglycemia30.3IGF1, GHR, GH1
15empty sella syndrome30.3IGF1, GH1
16anorexia nervosa30.2IGF1, GHR, GH1
17panhypopituitarism30.2GH1, GHR, HESX1, IGF1
18septo-optic dysplasia30.2HESX1, GH1
19obesity30.1IGF1, HESX1, GHR, GH1, GHSR, CTSK
20hypopituitarism30.1IGF1, HESX1, GHR, GH1
21hypothyroidism29.9IGF1, HESX1, GHR, GHRHR, GH1, GHSR
22dwarfism29.8IGF1, SHOX, ACAN, GHR, GHRHR, GH1
23mental retardation10.8
24microcephaly10.7
25brachydactyly10.6
26short syndrome10.5
27leri weill dyschondrosteosis10.5
283-m syndrome10.4
29deafness, epiphyseal dysplasia, short stature10.4
30isolated growth hormone deficiency10.4
31celiac disease10.4
32multiple epiphyseal dysplasia10.4
33blepharophimosis with ptosis, syndactyly, and short stature10.4
34cleft palate10.4
35meier-gorlin syndrome10.4
36myhre syndrome10.4
37subaortic stenosis short stature syndrome10.4
38fibrous dysplasia10.4GHR, GH1
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
44radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation10.3
45short stature syndrome, brussels type10.3
46short stature wormian bones dextrocardia10.3
47cataract10.3
48hypogonadism10.3
49retinitis10.3
50synostosis10.3

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



Diseases related to short stature

Symptoms for Short Stature

About this section

Symptoms by clinical synopsis from OMIM:

604271

Clinical features from OMIM:

604271

HPO human phenotypes related to Short Stature:

id Description Frequency HPO Source Accession
1 short stature HP:0004322

Drugs & Therapeutics for Short Stature

About this section

Drug clinical trials:

Search ClinicalTrials for Short Stature

Search NIH Clinical Center for Short Stature

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Short Stature

About this section

Anatomical Context for Short Stature

About this section

MalaCards organs/tissues related to Short Stature:

32
Bone, Testes, Skin, Heart, Pituitary, Kidney, Thyroid, Eye, Brain, Testis, Neutrophil, T cells

Animal Models for Short Stature or affiliated genes

About this section

Publications for Short Stature

About this section

Articles related to Short Stature:

(show top 50)    (show all 875)
idTitleAuthorsYear
1
Constitutional delay influences the auxological response to growth hormone treatment in children with short stature and growth hormone sufficiency. (25317732)
2014
2
Growth hormone significantly increases the adult height of children with idiopathic short stature: comparison of subgroups and benefit. (25075207)
2014
3
Comparative proteomic analysis in children with idiopathic short stature (ISS) before and after short-term recombinant human growth hormone (rhGH) therapy. (23436750)
2013
4
Heterozygous IGFALS Gene Variants in Idiopathic Short Stature and Normal Children: Impact on Height and the IGF System. (24335034)
2013
5
Human Growth Hormone Induced Cholestatic Hepatitis in a Growth Hormone Deficient Patient with Short Stature. (24359565)
2013
6
A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism. (22555342)
2012
7
Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. (22486325)
2012
8
A novel intronic mutation in SHOX causes short stature by disrupting a splice acceptor site: direct demonstration of aberrant splicing by expression of a minigene in HEK-293T cells. (23426818)
2012
9
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
10
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. (22840363)
2012
11
Short stature is an independent risk marker for mortality and incident coronary heart disease only in women: a structural relationship? (22466360)
2012
12
Functional analysis of conserved non-coding regions around the short stature hox gene (shox) in whole zebrafish embryos. (21731768)
2011
13
Review of growth hormone randomized controlled trials in children with idiopathic short stature. (21912163)
2011
14
Metabolic benefits of growth hormone therapy in idiopathic short stature. (21912170)
2011
15
Impact of growth hormone therapy on adult height of children with idiopathic short stature: systematic review. (21398350)
2011
16
Nail-patella syndrome associated with short stature: a case series. (20811572)
2010
17
Short stature and catch-up growth in celiac disease. (21088537)
2010
18
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
19
Short stature, celiac disease and growth hormone deficiency. (20020588)
2009
20
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
21
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. (19836009)
2009
22
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
23
Ruptured aneurysm of the sinus of Valsalva with Wildervanck syndrome (cervico-oculo-acoustic syndrome), blepharoptosis and short stature: case report. (17721033)
2007
24
Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature. (17028440)
2007
25
Evaluation of an insulin-like growth factor I-based growth hormone dosing regimen for children with short stature. (17667897)
2007
26
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
27
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. (17201812)
2007
28
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. (17050282)
2006
29
Short stature in patients with 45,X/46,XY mosaicism: report of three cases. (17407984)
2006
30
Safety of growth hormone treatment in pediatric patients with idiopathic short stature. (15899952)
2005
31
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. (16227037)
2005
32
Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly. (16080296)
2005
33
Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome. (15809993)
2005
34
Childhood growth hormone deficiency (GHD) and idiopathic short stature (ISS): how far can a consensus go? (15116947)
2004
35
Brachydactyly and short stature in a kindred with early-onset parkinsonism. (15368505)
2004
36
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
37
The surgical treatment of short stature: management strategy and local experience. (17679874)
2002
38
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
39
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. (12362035)
2002
40
46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. (11223846)
2001
41
Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. (10678654)
2000
42
Growth hormone therapy and children with idiopathic short stature: a viable option? (12024388)
1999
43
Serum growth hormone-binding protein is decreased in prepubertal children with idiopathic short stature. (8844453)
1996
44
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
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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Short Stature:

64
id Symbol AA change Variation ID SNP ID
1GHRp.Glu62LysVAR_002708
2GHRp.Arg179CysVAR_002714rs121909362
3GHSRp.Ala204GluVAR_032705

Clinvar genetic disease variations for Short Stature:

6
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

About this section
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

About this section

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

About this section

Compounds related to Short Stature according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1mk-067744 2811.1GHSR, IGF1
2somatuline4410.0IGF1, GH1
3quinagolide4410.0GH1, IGF1
4oxandrolone44 1111.0IGF1, GH1
5pyridostigmine44 1110.9IGF1, GH1
6acipimox44 2810.9GH1, IGF1
7pirenzepine44 28 1111.9GH1, IGF1
8clomiphene citrate449.9GH1, IGF1
9pegvisomant44 1110.9GH1, GHR, IGF1
10leuprolide acetate449.9IGF1, GHR, GH1
11naltrexone44 28 50 1112.8GH1, IGF1
12cabergoline44 28 1111.8GH1, GHR, IGF1
13bromocriptine44 28 1111.8GH1, GHR, IGF1
14dehydroepiandrosterone sulfate449.8GH1, GHR, IGF1
15clonidine44 50 28 1112.8IGF1, GHR, GH1
16c-peptide449.8GH1, GHR, IGF1
17triiodothyronine449.8GH1, GHR, IGF1
18cortisone44 2410.8GH1, IGF1
19androstenedione44 2410.8IGF1, GHR, GH1
20levodopa44 1110.8GH1, GHR, IGF1
21hydrocortisone44 2 61 1112.8GHSR, GH1, IGF1
22dihydrotestosterone44 28 24 1112.7IGF1, GHR, GH1
23pyridinoline449.7GH1, IGF1
24thyroxine44 2410.7IGF1, GHR, GH1
25lanreotide44 2810.7IGF1, GHR, GH1, GHSR
26octreotide44 61 28 1112.7GHSR, GH1, GHR, IGF1
27forskolin44 50 1111.6GHRHR, GH1, GHSR, NPR2
28deoxypyridinoline449.6GH1, IGF1
29estradiol44 24 1111.6GHSR, GH1, GHR, IGF1
30leucine449.5ACAN, GHRHR, GH1, CTSK
31dopamine44 28 24 1112.5GHSR, GH1, GHR, IGF1
32procollagen449.5IGF1, ACAN, GHR, GH1
33ghrp449.4GHSR, GH1, GHRHR, GHR, IGF1
34hexarelin44 2810.4IGF1, GHR, GHRHR, GH1, GHSR
35vitamin d449.4GH1, GHR, ACAN, IGF1
36ribonucleic acid449.4IGF1, GHR, GHRHR, GH1, GHSR
37steroid449.4IGF1, SHOX, GHR, GH1, GHSR
38gnrh449.4IGF1, HESX1, GHR, GH1
39arginine449.3IGF1, GHR, GHRHR, GH1, GHSR
40estrogen449.2IGF1, SHOX, GHR, GH1, GHSR
41acth449.2IGF1, HESX1, GHR, GH1, GHSR
42calcitriol44 61 24 1112.1GH1, GHR, IGF1
43retinoic acid44 249.9IGF1, ACAN, GHR, GH1, CTSK
44glucose448.9IGF1, GHR, GHRHR, GH1, GHSR
45dexamethasone44 50 28 1111.5IGF1, ACAN, GHR, GHRHR, GH1, GHSR
46serine448.5IGF1, GHR, GH1, GHSR, NPR2, CTSK

GO Terms for genes affiliated with Short Stature

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Short Stature

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet