MCID: SHR002
MIFTS: 57

Short Stature malady

Endocrine diseases category

Summaries for Short Stature

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 brachydactyly and turner syndrome. An important gene associated with Short Stature is GHSR (growth hormone secretagogue receptor), and among its related pathways are Signaling by GPCR and Class A/1 (Rhodopsin-like receptors). The compounds arginine and ribonucleic acid have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and growth/size.

Description from OMIM:46 604271

Aliases & Classifications for Short Stature

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46OMIM, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
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


Aliases & Descriptions:

short stature 46 44
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


External Ids:

OMIM46 604271
ICD10 via Orphanet26 E34.3

Related Diseases for Short Stature

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17GeneCards, 18GeneDecks
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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 1163)
idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly30.8FGFR3
2turner syndrome30.7IGFBP1, GHR, GH1, SHOX, IGFBP3, IGF1
3obesity30.5IGF1, PTPN11, CTSK, GHR, GHSR, GHRL
4dwarfism30.5IGFBP3, SHOX, GH1, GHR, GHRHR, IGF1
5noonan syndrome30.5GHR, IGFBP3, IGF1, PTPN11
6laron syndrome30.4GHR, IGFBP3, IGF1, IGFBP1, GH1
7prader-willi syndrome30.4GHRL, GH1, IGF1, GHSR
8hypogonadism30.4GHRL, GNRH1, GH1, IGFBP3, IGF1
9achondroplasia30.3FGFR3, ACAN
10hypochondroplasia30.3SHOX, FGFR3
11costello syndrome30.3PTPN11
12hypertension30.3IGF1
13arthritis30.1GHRL, CTSK, ACAN, PTPN11
14panhypopituitarism30.1GH1, GHR, IGF1
15hypothyroidism30.0GHRHR, IGFBP3, GHSR, GHR, GH1, GHRL
16hypoglycemia30.0GH1, IGFBP3, IGFBP1, GNRH1, IGF1, GHRL
17diabetes mellitus30.0IGF1, IGFBP3, GHR, IGFBP1, GHRL, GH1
18hypopituitarism30.0GHR, IGFBP3, GH1, GNRH1, IGF1, GHRL
19rheumatoid arthritis30.0ACAN, GHRL, CTSK, PTPN11
20amenorrhea30.0GNRH1, IGF1
21insulin-like growth factor i deficiency30.0IGF1, GHR
22x-linked spondyloepiphyseal dysplasia tarda30.0ACAN, FGFR3
23hepatitis30.0GHR, IGFBP1
24down syndrome30.0FGFR3
25pycnodysostosis30.0CTSK
26werner syndrome30.0IGFBP3
27growth hormone deficiency29.8IGF1, IGFBP3, IGFBP1, GH1, GHRHR, GHR
28anorexia nervosa29.8IGF1, GHRL, GH1, IGFBP3, IGFBP1, GHR
29acanthosis nigricans29.8FGFR3, IGF1R, IGF1
30rabson-mendenhall syndrome29.8IGFBP3, IGF1
31lipodystrophy29.8GHR
32partial isolated growth hormone deficiency29.8GHSR, GHR
33isolated growth hormone deficiency type 1b29.8GH1, GHRHR
34empty sella syndrome29.8GH1, IGF1
35donohue syndrome29.8IGF1, IGF1R
36premature ovarian failure29.8GNRH1
37neurofibromatosis29.8PTPN11
38deficiency anemia29.8GHRL
39microcephaly10.7
40short syndrome10.4
41multiple epiphyseal dysplasia10.4
42cleft palate10.4
43intellectual disability10.4
44deafness, epiphyseal dysplasia, short stature10.4
45celiac disease10.3
463-m syndrome10.3
47blepharophimosis with ptosis, syndactyly, and short stature10.3
48floating-harbor syndrome10.3
49myhre syndrome10.3
50kbg syndrome10.3

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



Diseases related to short stature

Clinical Features for Short Stature

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46OMIM
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Clinical features from OMIM:

604271

Clinical synopsis from OMIM:

604271

Drugs & Therapeutics for Short Stature

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Short Stature

Drug clinical trials:

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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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Animal Models for Short Stature or affiliated genes

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36MGI
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Publications for Short Stature

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Genetic Variations for Short Stature

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Short Stature:

62
id Symbol AA change Variation ID SNP ID
1GHRp.Glu62LysVAR_002708
2GHRp.Arg179CysVAR_002714rs121909362
3GHSRp.Ala204GluVAR_032705

Expression for genes affiliated with Short Stature

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1BioGPS, 15Gene 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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53Reactome, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore
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Pathways related to Short Stature according to GeneCards/GeneDecks:

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.2GHR, GHRHR, PTPN11, GHSR, GHRL, GH1
2
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10.9GHR, GHSR, GH1, GHRL, GNRH1, GHRHR
3
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10.9FGFR3, IGF1R, GH1, GHR, GNRH1, IGF1
4
Translation Insulin regulation of translation
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10.9IGFBP3, GHR, GH1, PTPN11, IGF1, IGF1R
510.9FGFR3, GHR, GH1, IGF1R, IGF1, ACAN
6
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10.9GNRH1, GH1, IGF1R, IGF1, FGFR3, PTPN11
710.8GH1, IGF1R, IGF1, FGFR3, GHR
8
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10.8GNRH1, IGF1, FGFR3, GH1, IGF1R
9
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10.8GH1, GNRH1, IGF1R, FGFR3, IGF1
10
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10.8GH1, FGFR3, IGF1R, IGF1, GNRH1
11
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10.8FGFR3, IGF1R, GH1, GNRH1, IGF1
12
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10.8IGF1R, GH1, IGF1, GHR
13
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10.8GHR, GH1, FGFR3, PTPN11
14
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10.8FGFR3, GNRH1, IGF1, GH1
15
Hide members
10.8FGFR3, IGF1R, GH1, GNRH1
16
Hide members
10.7IGF1R, IGF1, IGFBP1, IGFBP3
17
Hide members
10.7FGFR3, PTPN11, IGF1R, IGF1
1810.7GHR, GHSR, IGFBP1
1910.7IGFBP1, IGF1, IGFBP3
2010.7IGF1, IGF1R, IGFBP3
21
Cell adhesion ECM remodeling
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10.7ACAN, IGF1R, IGF1
22
Hide members
10.6FGFR3, GH1

Compounds for genes affiliated with Short Stature

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to Short Stature according to GeneCards/GeneDecks:

(show top 50)    (show all 119)
idCompoundScoreTop Affiliating Genes
1arginine4411.7FGFR3, IGF1, IGFBP3, IGFBP1, GH1, GHRL
2ribonucleic acid4411.6IGF1, GHRHR, GNRH1, GHR, GHSR, GHRL
3octreotide44 59 28 1114.5IGF1, IGFBP3, IGFBP1, GH1, GHRL, GHSR
4estradiol44 11 2413.5GHR, GHSR, GHRL, GH1, IGFBP1, GNRH1
5testosterone44 59 11 2414.5GHR, GHSR, GH1, GHRL, GNRH1, IGFBP1
6steroid4411.5IGFBP1, GNRH1, GHR, SHOX, GHSR, GH1
7acth4411.5IGF1, IGFBP3, IGFBP1, GH1, GHRL, GHSR
8gnrh4411.4GNRH1, GH1, GHR, IGF1, GHRL, IGF1R
9vitamin d4411.4IGFBP1, IGF1R, IGFBP3, GHR, ACAN, IGF1
10hexarelin44 2812.4GHR, GHRHR, GHSR, GHRL, GH1, IGFBP3
11ghrp4411.4GHR, GHRHR, GHSR, GHRL, GH1, IGFBP3
12dexamethasone44 49 28 1114.4GHRHR, GHSR, GHRL, GH1, IGF1R, ACAN
13dehydroepiandrosterone sulfate4411.4IGF1, GNRH1, GHR, GHRL, GH1, IGFBP1
14c-peptide4411.4IGF1, GHR, GH1, IGFBP1, IGFBP3, IGF1R
15thymidine44 2412.4IGF1, PTPN11, IGF1R, GHRL, IGFBP3, IGFBP1
16dihydrotestosterone44 28 11 2414.4IGF1, IGFBP1, GH1, GHR, IGFBP3, GNRH1
17thyroxine44 2412.4GH1, IGFBP1, IGF1, IGFBP3, GNRH1, GHRL
18lanreotide44 2812.3GHR, GHSR, GH1, IGFBP1, IGFBP3, IGF1
19pegvisomant44 1112.3GH1, IGF1, IGFBP3, IGFBP1, GHRL, GHR
20clomiphene citrate4411.3IGFBP3, IGFBP1, IGF1R, IGF1, GNRH1, GH1
21tamoxifen44 49 28 1114.3IGF1R, IGF1, IGFBP1, GNRH1, GHR, IGFBP3
22triiodothyronine4411.3GHR, GHRL, GH1, IGFBP3, IGF1, IGFBP1
23creatinine4411.3IGF1, IGF1R, IGFBP3, IGFBP1, GHRL, GHR
24androstenedione44 2412.3GNRH1, GHR, GH1, IGFBP1, IGFBP3, IGF1
25retinoic acid44 2412.2IGFBP3, IGF1R, IGF1, IGFBP1, ACAN, GH1
26pyridostigmine44 1112.2GH1, IGFBP1, IGFBP3, IGF1, GHRL
27cabergoline28 44 1113.2GNRH1, IGF1, IGFBP3, GHR, GH1
28oxandrolone44 1112.1IGF1, IGFBP3, GH1, GHRL
29metformin44 49 1113.1IGF1, IGFBP1, GH1, GHRL, GNRH1
30calcitriol44 59 11 2414.1IGFBP3, IGF1, IGFBP1, GH1, GHR, IGF1R
31serine4411.1CTSK, GHRL, GH1, FGFR3, PTPN11
32glucose4411.1IGF1R, IGF1, GHRL, IGFBP3
33raloxifene44 28 49 1114.1GNRH1, GH1, IGF1, IGF1R
34dhea4411.1IGFBP1, IGFBP3, IGF1, GH1, GHRL
35buserelin44 28 1113.1IGFBP3, IGF1, IGFBP1, GNRH1
36leuprolide acetate4411.1GHR, GNRH1, GH1, IGF1
37glutamate4411.1GHRHR, GHRL, GNRH1
38bromocriptine28 44 1113.0IGFBP3, GNRH1, GHR
39pirenzepine44 28 1113.0IGFBP1, IGF1, GH1, GHRL
40naltrexone44 49 28 1114.0IGF1, GNRH1, GH1, IGFBP3
41cysteine4411.0CTSK, GHRHR, IGFBP1, IGF1R, FGFR3, PTPN11
42progestin4411.0IGF1, IGFBP3, GNRH1, IGFBP1, IGF1R
43estrogen4410.9SHOX
44forskolin44 49 1112.9PTPN11, GHSR, GHRHR
45hydrocortisone44 2 59 1113.8IGFBP1, GH1, GHRL, GHSR, IGF1
46estrone44 28 11 2413.8IGF1, GNRH1, GH1, IGFBP1, IGFBP3
47deoxypyridinoline4410.8GH1, IGF1, IGFBP3, IGFBP1
48procollagen4410.8ACAN
49vegf4410.7IGF1R, PTPN11, GH1, IGFBP3, IGFBP1, GHRL
50mecasermin44 1111.6IGF1, IGF1R, IGFBP3

GO Terms for genes affiliated with Short Stature

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16Gene Ontology
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Cellular components related to Short Stature according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00557611.1ACAN, GNRH1, CTSK, GHR, GHRL, GH1
2extracellular spaceGO:00561510.7GNRH1, CTSK, GHR, GHRL, GH1, IGFBP1
3insulin-like growth factor binding protein complexGO:01694210.6IGF1, IGFBP3

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of insulin-like growth factor receptor signaling pathwayGO:04356811.2GHSR, GH1, IGFBP3, IGF1, GHRHR
2positive regulation of multicellular organism growthGO:04001811.2GHSR, GHRL, GH1, GHR, GHRHR
3skeletal system developmentGO:00150111.2SHOX, SHOX2, IGF1, FGFR3, ACAN
4hormone-mediated signaling pathwayGO:00975511.1PTPN11, GHRL, GHSR, GHR
5positive regulation of MAPK cascadeGO:04341011.1IGF1R, IGF1, FGFR3, IGFBP3
6phosphatidylinositol-mediated signalingGO:04801511.1IGF1, FGFR3, PTPN11, IGF1R
7growth hormone secretionGO:03025211.1GHRL, GHSR, GHRHR
8insulin-like growth factor receptor signaling pathwayGO:04800911.1IGF1R, GHR, IGF1
9positive regulation of tyrosine phosphorylation of Stat5 proteinGO:04252311.1IGF1, GHR, GH1
10insulin receptor signaling pathwayGO:00828611.0PTPN11, FGFR3, IGF1R, IGFBP1
11negative regulation of insulin secretionGO:04667611.0PTPN11, GHSR, GHRL
12regulation of multicellular organism growthGO:04001411.0IGF1, GHR, PTPN11
13JAK-STAT cascadeGO:00725911.0GHR, GH1, FGFR3
14positive regulation of tyrosine phosphorylation of Stat3 proteinGO:04251711.0GHR, GH1, FGFR3
15cellular response to insulin stimulusGO:03286911.0GHSR, GHRHR, GHR
16bone maturationGO:07097711.0GH1, FGFR3
17multicellular organismal reproductive processGO:04860910.9PTPN11, GHRHR
18positive regulation of appetiteGO:03210010.9GHSR, GHRL
19positive regulation of peptidyl-tyrosine phosphorylationGO:05073110.9GHR, GH1, IGF1
20water homeostasisGO:03010410.9IGF1, GHRHR
21negative regulation of tumor necrosis factor biosynthetic processGO:04253610.9GHRL, GHSR
22negative regulation of interleukin-6 biosynthetic processGO:04540910.9GHSR, GHRL
23negative regulation of interleukin-1 beta productionGO:03269110.9GHSR, GHRL
24positive regulation of growth hormone secretionGO:06012410.8GHRHR, GHRL
25cartilage development involved in endochondral bone morphogenesisGO:06035110.8SHOX2, GHR
26growth hormone receptor signaling pathwayGO:06039610.8GH1, GHR
27exocrine pancreas developmentGO:03101710.7IGF1R, IGF1
28response to foodGO:03209410.7GHSR, GHR
29adult feeding behaviorGO:00834310.6GHRL, GHSR
30hormone metabolic processGO:04244510.6PTPN11, GHRHR
31actin polymerization or depolymerizationGO:00815410.5GHRL, GHSR
32activation of MAPK activityGO:00018710.4GHR, PTPN11, GHRL

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor bindingGO:00552010.8IGF1R, IGFBP3, IGFBP1
2peptide hormone bindingGO:01704610.8GHRHR, GHR, GHSR
3insulin receptor bindingGO:00515810.7PTPN11, IGF1, IGF1R
4growth hormone-releasing hormone receptor activityGO:01652010.6GHRHR, GHSR
5insulin receptor substrate bindingGO:04356010.6PTPN11, IGF1R
6insulin-like growth factor I bindingGO:03199410.5IGF1R, IGFBP3
7hormone activityGO:00517910.4IGF1, GH1, GNRH1

Products for genes affiliated with Short Stature

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Sources for Short Stature

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet