Summaries for Short Stature

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44Wikipedia, 33OMIM, 22MalaCards
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Wikipedia: Short stature refers to a height of a human being which is below expected. Shortness is a vague term...44 more...

MalaCards: Short Stature is related to turner syndrome and growth hormone deficiency. An important gene associated with Short Stature is SHOX (short stature homeobox), and among its related pathways are Activation of cAMP-Dependent PKA and Renin-Angiotensin Pathway. The compounds alanine and arginine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, kidney and thyroid, and related mouse phenotypes are mortality/aging and homeostasis/metabolism.

OMIM: 604271

Aliases & Descriptions for Short Stature

Sources:
7diseasecard, 33OMIM, 32Novoseek
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short stature 7 33 32

Related Diseases for Short Stature

Sources:
13GeneCards, 14GeneDecks
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Diseases related to short stature by text searches and GeneDecks gene sharing:

(show top 50)    (show all 783)
idRelated DiseaseScoreTop Affiliating Genes
1turner syndrome34.8BGLAP, IGFBP1, IGFBP3, IGF1, GH1, GHR
2growth hormone deficiency34.2REN, PBX1, BGLAP, LHX3, LHX4, LEP
3leri-weill dyschondrosteosis34.0LBX1, FGFR3, SHOX
4noonan syndrome33.3BRAF, RAF1, FGFR3, MAP2K2, MAP2K1, IGFBP3
5dwarfism33.2LHX3, CDT1, CDC6, ARSE, INS, FGFR3
6microcephaly32.9ZNF592, RENS2, VPS13B, RBM28, RAD50, ZBTB16
7meier-gorlin syndrome32.7LMX1B, BMP5, CDT1, CDC6, SHOX, ORC4
8prader-willi syndrome32.7LEP, CFI, FMR1, INS, MAGEL2, IGFBP1
9mental retardation syndrome32.1KDM5C, ATRX, MRSS, MRXSA, FMR1, CUL4B
10schimke immunoosseous dysplasia31.9B3GAT3, CFI, GNPTAB, GNPTG, CTSK, PLOD2
11isolated growth hormone deficiency31.8LHX4, IGF1, GH1, GHRH, GHRHR, GHSR
12laron syndrome31.7INS, IGFBP1, IGF2, IGFBP2, IGFBP3, IGF1
13delayed puberty31.7LEP, IGFBP3, IGF1, GNRH1, GHR, GHRH
14multiple epiphyseal dysplasia31.4CD36, MATN3, COL9A2, COMP, COL9A3, COL2A1
15costello syndrome31.4BRAF, INS, MAP2K2, MAP2K1, IGF2, IGFBP3
16achondroplasia31.3FGFR3, MAP2K1, IHH, IGF1, PTHLH, COL1A1
17leopard syndrome31.1BRAF, RAF1, FBN1, MAP2K2, MAP2K1, HRAS
18photosensitive trichothiodystrophy31.0PBX1, BGLAP, LEP, CFI, CD36, INS
1911-beta-hydroxylase deficiency30.9REN, GH1, CYP21A2, SHBG
20cartilage-hair hypoplasia30.8TRPS1, RPS19, COL10A1, RMRP
21intellectual disability30.8VPS13B, RAI1, KDM5C, ATRX, FMR1, ARSE
22combined pituitary hormone deficiency30.4RBM28, PBX1, LHX3, LHX4, INS, IGFBP3
23brachydactyly30.4WDR35, REN, BMPR1B, PARK7, PAPSS2, CHST3
24panhypopituitarism30.2BGLAP, LHX3, LHX4, IGFBP1, IGF2, IGF1
25celiac disease30.2VDR, BGLAP, PARK7, LEP, CD36, FLNB
26cerebellar hypoplasia30.2RECQL4, LHX3, GNAS, HOXD13, GH1, GHRH
27hypoglycemia30.1LEP, CFI, CD36, INS, IGFBP1, IGF1R
28silver-russell syndrome30.1IGFBP1, IGF1R, IGF2, IGFBP3, IGF1, COL1A2
29empty sella syndrome30.1LHX3, IGF1, GH1, PRL, PROP1, POU1F1
30anophthalmia30.0LHX4, INS, SRY, HESX1, PRL, SOX3
31x-linked spondyloepiphyseal dysplasia tarda30.0CHST3, FGFR3, IGF1, TRPV4, COL1A1, COMP
32pseudoachondroplasia29.9CD36, MATN3, COL9A2, COMP, COL9A3, COL9A1
33robinow syndrome29.9IGF1, GNRH1, GH1, ROR2
34amenorrhea29.9BGLAP, LEP, FMR1, AR, INS, IGFBP3
35diastrophic dysplasia29.8PAPSS2, MATN3, COL9A2, COMP, COL9A3, COL2A1
36azoospermia29.8PBX1, AR, IGF1, GNRH1, GJA1, GH1
37laron dwarfism29.7IGF1, GH1, GHR
38combined immunodeficiency29.7RECQL4, FMR1, AR, INS, IL2RG, IGFBP1
39osteochondritis dissecans29.7CD36, MMP13, MATN3, COL9A2, COL9A3, COL9A1
40severe combined immunodeficiency29.7FMR1, AR, INS, IL2RG, IGFBP1, IGFBP2
41hypospadias29.7FMR1, AR, ALDH3A2, HOXA13, HOXD13, CYP21A2
42glaucoma29.6REN, LMX1B, BMP5, MRXSA, MMP9, FBN1
43chondrodysplasia29.5BMPR1B, CHST3, CD36, FLNB, ARSE, ARSB
44werner syndrome29.5RECQL4, RAD50, BGLAP, ATRX, INS, IGFBP3
45ichthyosis29.5BRAF, ARSE, ARSB, MAP2K2, MAP2K1, ALDH3A2
46chst3-related skeletal dysplasia29.5MMP13, FLNB, FGFR3, GNAS, PTHLH, CTSK
47diamond-blackfan anemia29.5RPS26, RPL35A, RPS17, RPS24, RPS7, RPL5
48weill-marchesani syndrome29.4FBN1, LTBP3, ADAMTS10, ADAMTS17, ADAMTSL2
49x-linked hypophosphatemia29.4BGLAP, FGF23, GH1
50insulin resistance29.4REN, VLDLR, VDR, PBX1, BGLAP, LEP

Graphical network of the top 20 diseases related to short stature:



Graphical network of diseases related to short stature

Clinical Features for Short Stature

Sources:
33OMIM
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Clinical features from OMIM: 604271

Drugs & Therapeutics for Short Stature

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Short Stature

Anatomical Context for Short Stature

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22MalaCards
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MalaCards organs/tissues related to short stature:

22
Skeletal muscle, Kidney, Thyroid, Skin, T cells, B cells, Fetal thyroid, Pituitary

Phenotypes for genes affiliated with Short Stature

Sources:
25MGI
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MGI Mouse Phenotypes related to short stature:

25 (show all 28)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1mortality/agingMP:0010768INF, RECQL4, REN, , VLDLR, BRAF
2homeostasis/metabolism phenotypeMP:0005376INFREN, VLDLR, BRAF, VDR, LMX1B, RAF1
3growth/size phenotypeMP:0005378INFRECQL4, REN, VLDLR, BRAF, VDR,
4immune system phenotypeMP:0005387INFRECQL4, REN, BRAF, VDR, BMP5, RAD50
5hematopoietic system phenotypeMP:0005397INFRECQL4, BRAF, RAD50, ZBTB16, CHST3, ARSB
6digestive/alimentary phenotypeMP:0005381INF, RECQL4, BRAF, VDR, , BMP5
7nervous system phenotypeMP:0003631INF, REN, VLDLR, BRAF, LMX1B, BMPR1B
8reproductive system phenotypeMP:0005389INFREN, VDR, BMPR1B, RAD50, PBX1, LHX3
9no phenotypic analysisMP:0003012INF, LMX1B, INS, FGFR3, FBN1, IHH
10cardiovascular system phenotypeMP:0005385INFREN, VLDLR, BRAF, VDR, LMX1B,
11renal/urinary system phenotypeMP:0005367INFREN, BRAF, LMX1B, BMP5, PBX1, CFI
12normal phenotypeMP:0002873INFREN, BRAF, LMX1B, PBX1, KDM5C, LBX1
13muscle phenotypeMP:0005369INF, REN, BRAF, LMX1B, RAF1, LEP
14adipose tissue phenotypeMP:0005375INFVLDLR, BRAF, RAI1, LEP, LEPRE1, CD36
15vision/eye phenotypeMP:0005391INF, RECQL4, VLDLR, BRAF, LMX1B, BMPR1B
16integument phenotypeMP:0010771INFRECQL4, BRAF, LMX1B, RAF1, PBX1, LEPRE1
17endocrine/exocrine gland phenotypeMP:0005379INFBMP5, BMPR1B, RAD50, LHX3, LHX4, ZBTB16
18cellular phenotypeMP:0005384INF, RECQL4, , VLDLR, BRAF, VDR
19limbs/digits/tail phenotypeMP:0005371INF, RECQL4, VDR, LMX1B, BMP5, BMPR1B
20skeleton phenotypeMP:0005390INF, BRAF, VDR, LMX1B, , BMPR1B
21hearing/vestibular/ear phenotypeMP:0005377INF, VDR, BMP5, PBX1, LHX3, ARSB
22liver/biliary system phenotypeMP:0005370INFBMP5, RAD50, PBX1, CD36, AR, INS
23craniofacial phenotypeMP:0005382INF, RECQL4, LMX1B, , BMP5, BMPR1B
24respiratory system phenotypeMP:0005388INFBMP5, RAD50, RAI1, LHX4, ARSB, FGF23
25tumorigenesisMP:0002006INFRECQL4, BRAF, RAD50, LEP, MMP9, AR
26embryogenesis phenotypeMP:0005380INF, RECQL4, , BRAF, , BMP5
27behavior/neurological phenotypeMP:0005386INFREN, VLDLR, BRAF, LMX1B, BMP5, RAD50
28pigmentation phenotypeMP:0001186INFRECQL4, VLDLR, BRAF, BMPR1B, FBN1, CASR

Publications for genes affiliated with Short Stature

Sources:
35PubMed
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Articles related to short stature:

(show top 50)    (show all 249)
idTitleAuthorsYearAffiliating Genes
1SHOX gene defects and selected dysmorphic signs in pa tients of idiopathic short stature and LAcri-Weill dyschondrosteosis. (22020182)Hirschfeldova K.... Stekrova J.2012SHOX
2Molecular mechanisms underlying insulin-like growth f actor action: How mutations in the GH: IGF axis lead to short stature. (21972777)Forbes B.E.2011IGF1R, IGF1
3A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome d eletion. (19844260)Franco L.M.... Cheung S.W.2010NSD1
4The role of insulin like growth factor (IGF)-1 and IG F-binding protein-3 in diagnosis of Growth Hormone Deficiency in short stature children. (19381505)Haghshenas Z.... Amirhakimi G.2009IGF1, IGFBP3, INS
5Noonan syndrome, the Ras-MAPK signalling pathway and short stature. (19407499)Binder G.2009IGF1, PTPN11, IGFBP3
6Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay. (19240156)Fang P.... Rosenfeld R.G.2009IGF1R
7Selecting short-statured children needing growth hormone testing: derivation and validation of a clinical decision rule. (18631396)Duche L.... Chalumeau M.2008IGF1, GH1
8Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia. (18540246)Conwell L.S.... Zankl A.2008RMRP
9OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. (18628516)Dateki S.... Ogata T.2008INS, POU1F1, HESX1
10Treatment of short stature and growth hormone deficie ncy in children with somatotropin (rDNA origin). (19707446)Hardin D.S.2008IGF1
11Growth hormone treatment in adolescent males with idiopathic short stature: changes in body composition, protein, fat, and glucose metabolism. (17519313)Hannon T.S.... Arslanian S.A.2007INS, GH1
12Growth 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. (17047016)Blum W.F.... Rappold G.2007SHOX
13Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene. (17389811)Hwa V.... Rosenfeld R.G.2007IGF1, IGFBP3, GHR
14Serum procollagen type 1 amino-terminal propeptide (P1NP) as an early predictor of the growth response to growth hormone treatment: Comparison of intrauterine growth retardation and idiopathic short stature. (17321775)Gascoin-Lachambre G.... Souberbielle J.C.2007GH1
15Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. (17182655)Rappold G.... Niesler B.2007SHOX
16Short stature and the risk of adiposity, insulin resistance, and type 2 diabetes in middle age: the Third National Health and Nutrition Examination Survey (NHANES III), 1988-1994. (16801590)Asao K.... Brancati F.L.2006INS
17A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. (16498234)Takahashi I.... Koizumi A.2006PTPN11
18Genetic basis of short stature. (16114273)Castro-Feijoo L.... Pombo M.2005LHX3, LHX4, HESX1
19Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). (15713716)Besson A.... Mullis P.E.2005CSH1, GH1
20X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. (16053905)Van Esch H.... Devriendt K.2005DLG3
21Insulin-like growth factor I (IGF-I) measurements in growth hormone (GH) therapy of idiopathic short stature (ISS). (16039893)Park P.... Cohen P.2005IGF1
22Evaluation of insulin-like growth factor (IGF)-I and IGF binding protein-3 generation test in short stature. (15921173)Darendeliler F.... BaA9 F.2005IGF1, IGFBP3, GH1
23Use of aromatase inhibitors in children with short stature. (16429098)Cernich J.... Popovic J.2004CYP19A1
24Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature. (12655557)Millar D.S.... Procter A.M.2003CSH1, GH1
25A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family. (12673642)Karaman B.... Basaran S.2003SHOX
26Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. (14557470)Binder G.... Martin D.D.2003SHOX
27Truncated growth hormone receptor mutations function as dominant-negative inhibitors of the full-length receptor and cause genetic short stature (11857919)Minamitani K.2002GHR
28SHOX intragenic microsatellite analysis in patients with short stature. (11874178)Ezquieta B.... Gracia R.2002SHOX
29The effect of short- and long-term growth hormone treatment on bone mineral density and bone metabolism of prepubertal children with idiopathic short stature: a 3-year study. (12460321)Lanes R.... Weisinger J.R.2002GH1
30Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. (11889216)Rappold G.A.... Ogata T.2002SHOX
31Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity. (11735031)Grigelioniene G.... Dumanski J.P.2001SHOX
32SHOX gene in Leri-Weill syndrome and in idiopathic short stature. (11716161)Bernasconi S.... Forabosco A.2001SHOX
33Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. (11567216)Machinis K.... Amselem S.2001PDLIM5, LHX4
34Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature. (11585080)Musebeck J.... Stumm M.2001SHOX
35The usefulness of serum insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein-3 (IGFBP-3) for evaluation of children with short stature. (10932487)Jaruratanasirikul S.... Sriplung H.2000IGF1, IGFBP3
36Genetic studies in idiopathic short stature. (10943824)Attie K.M.2000SHOX
37Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature. (10762289)Johnston L.B.... Clark A.J.2000GHR
38Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis. (10487661)Stock J.L.... Mericq M.V.1999CASR, CXADR
39New growth hormone receptor exon 9 mutation causes genetic short stature. (10102075)Ayling R.M.... Norman M.R.1999GHR
40Long-term zinc and iron supplementation in children of short stature: effect of growth and on trace element content in tissues. (10445218)Perrone L.... Di Toro R.1999TF
41Preliminary report on the short stature of Southeast Asian forest dwellers, the Manni, in southern Thailand: lack of an adolescent spurt in plasma IGF-I concentration. (9740270)Ishida T.... Settheetham-Ishida W.1998IGF1
42Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. (9140395)Rao E.... Rappold G.A.1997SHOX
43Short stature and failure of pubertal development in thalassaemia major: evidence for hypothalamic neurosecretory dysfunction of growth hormone secretion and defective pituitary gonadotropin secretion. (9365067)Roth C.... SchrAPter W.1997IGF1
44Partial growth-hormone insensitivity: the role of growth-hormone receptor mutations in idiopathic short stature. (9255229)Goddard A.D.... Attie K.1997GHR
45Insulin-like growth factor I gene deletion causing in trauterine growth retardation and severe short stature. (9401537)Woods K.A.... Savage M.O.1997IGF1
46Short stature caused by a mutant growth hormone. (8552145)Takahashi Y.... Chihara K.1996CSH1, GH1
47Growth hormone (GH)-releasing effects of synthetic peptide GH-releasing peptide-2 and GH-releasing hormone (1-29NH2) in children with GH insufficiency and idiopathic short stature. (7666796)Tuilpakov A.N.... Bowers C.Y.1995GHSR, GH1
48Insulin-like growth factor-I in children with short stature. (7735013)Tsai W.Y.... Lee J.S.1994IGF1
49Constitutionally short stature: analysis of the insulin-like growth factor-I gene and the human growth hormone gene cluster. (1677176)Mullis P.E.... Brook C.G.1991IGF1
50Effect of chronic clonidine treatment on urinary grow th hormone excretion and linear growth in children with short stature. (2100275)SanmartA- A.... Audi L.1990IGF1

Expression for genes affiliated with Short Stature

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Short Stature

Pathways for genes affiliated with Short Stature

Sources:
36QIAGEN, 41Thomson Reuters, 10EMD Millipore, 20KEGG, 34PharmGKB
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Pathways related to short stature according to GeneDecks:

(show top 50)    (show all 244)
idPathwayScoreTop Affiliating Genes
1Activation of cAMP-Dependent PKA36INFMAP2K2, IGF1, GNRH1, GHRH, LTBP3,
2Renin-Angiotensin Pathway36INFREN, , IGF1, BMP5, RAF1, IGF2
3eNOS Signaling36INFIGF1, BMP5, , LTBP3, GHRH, GH1
4MAPK Signaling36INFMAP2K1, NRAS, GHRH, ROR2, GDF5, HRAS
5Activation of PKA through GPCR36INFBRAF, GNRH1, IGF1R, IGF2, IGF1, HRAS
6FAK1 Signaling36INFMAP2K2, NRAS, SOS1, , HRAS, MAP2K1
7Estrogen Pathway36INF, HRAS, GH1, GHRH, NR0B1, NRAS
8ERK Signaling36INFGH1, HRAS, GNRH1, GDF5, SOS1,
9GPCR Pathway36INFGNRH1, IGF1, IGF2, IGF1R, MAP2K1, MAP2K2
10Rap1 Pathway36INFBRAF, SOS1, , LTBP3, NRAS, GH1
11Development_Prolactin receptor signaling4111.1EP300, PTPN11, HRAS, GH1, MAP2K1, MAP2K2
12Development Prolactin receptor signaling1011.1PTPN11, STAT5B, PRLR, SOS1, EP300, GH1
13Development_IGF-1 receptor signaling4110.9MAP2K1, RAF1, MAP2K2, SOS1, IGFBP1, IGF1R
14Development IGF-RI signaling1010.9IGF1, RAF1, MAP2K1, IGFBP3, IGFBP1, IGF1R
15Prolactin Signaling3610.9BRAF, RAF1, CREBBP, MAP2K2, EP300, MAP2K1
16Renal cell carcinoma2010.6MAP2K2, HRAS, SOS1, EP300, CREBBP, NRAS
17Transcription_Receptor-mediated HIF regulation4110.6IGF1R, IGFBP3, RAF1, HRAS, IGF1, MAP2K2
18Pathway_PA1659800503410.3MAP2K1, KRAS, HRAS, BRAF, RAF1, FGFR3
19Prostate cancer2010.3MAP2K1, SOS1, CREBBP, NRAS, HRAS, EP300
20Acute myeloid leukemia2010.2ZBTB16, BRAF, RAF1, MAP2K2, HRAS, MAP2K1
21Transcription Receptor-mediated HIF regulation1010.2IGFBP3, RAF1, INS, MAP2K1, IGF1R, IGF1
22Bladder cancer209.4MMP9, NRAS, RAF1, FGFR3, MAP2K2, MAP2K1
23JAK-STAT Pathway36INFGHR, RAF1, BMP5, GHRH, , FGF23
24TGF-Beta Pathway36INFGNRH1, IGF1, IGF2, MAP2K1, MAP2K2, HRAS
25Integrin Pathway36INFMAP2K2, COL9A3, COL2A1, COL9A1, ,
26PTEN Pathway36INFBMP5, BRAF, , FGF23, FGFR3, FBN1
27Pathways in cancer20INFIGF1R, AR, NRAS, MMP9, ZBTB16, CREBBP
28eIF2 Pathway36INFGNRH1, HRAS, GH1, GHRH, NRAS, LTBP3
29Rac1 Pathway36INFMAP2K1, GDF5, BMP5, , GHRH, NRAS
30Development_Hedgehog and PTH signaling pathways in bone and cartilage development41INFCOL1A1, COL1A2, GNAS, PTHLH, IHH, MMP13
31CREB Pathway36INFGDF5, EP300, , LTBP3, CREBBP, GHRH
32Development Ligand-independent activation of ESR1 and ESR210INFCREBBP, MAP2K1, MAP2K2, , EP300, SOS1
33ILK Signaling36INFFLNB, GDF5, GNRH1, IGF1, LTBP3, IGF2
34Paxillin Interactions36INFGDF5, , LTBP3, ROR2, SOS1, FGF23
35GnRH Signaling36INFCOL2A1, SOS1, , COL9A3, COL1A2, COL9A2
36Development_Ligand-independent activation of ESR1 and ESR241INFRAF1, HRAS, SOS1, CREBBP, GNAS, IGF1
37Ras Pathway36INFHRAS, IGF2, BRAF, GNRH1, GHRH, NRAS
38PPAR Pathway36INFGH1, FGFR3, SOS1, LTBP3, CREBBP, NRAS
39Molecular Mechanisms of Cancer36INFGDF5, EP300, ROR2, SOX3, GNRH1, IGF2
40Development Hedgehog and PTH signaling pathways in bone and cartilage development10INFMMP13, IHH, GNAS, COL1A1, RUNX2, PTHLH
41Chronic myeloid leukemia20INFRAF1, MAP2K2, MAP2K1, NRAS, HRAS, PTPN11
42MAPK Family Pathway36INFMAP2K1, RAF1, FGF23, FGFR3, IL2RG, BRAF
43Nanog in Mammalian ESC Pluripotency36INFFGF23, LTBP3, NRAS, GHRH, GH1, GNRH1
44Pancreatic Adenocarcinoma36INFFGFR3, FGF23, MMP9, MMP13, RAF1, BMP5
45Intracellular Calcium Signaling36INFIGF1, GNRH1, HRAS, GHRH, GH1, TRPV4
46Breast Cancer Regulation by Stathmin136INFGDF5, ROR2, , RAF1, IGF1R, SOS1
47Phospholipase-C Pathway36INFBMP5, , RAF1, FGF23, COL9A2, COL1A1
48p70S6K Signaling36INFMAP2K1, MAP2K2, FGFR3, FGF23, INS, RAF1
4914-3-3 Induced Intracellular Signaling36INF, HRAS, GDF5, ROR2, LTBP3, GHRH
50Rho Family GTPases36INFGHRH, GH1, GNRH1, IGF1, IGF2, IGF1R

Compounds for genes affiliated with Short Stature

Sources:
32Novoseek , 42Tocris Bioscience, 34PharmGKB, 9DrugBank, 18HMDB
See all sources

Compounds related to short stature according to GeneDecks:

(show top 50)    (show all 229)
idCompoundScoreTop Affiliating Genes
1alanine32 INFBRAF, VDR, , RAF1, BGLAP, B3GAT3
2arginine32 INFREN, BRAF, VDR, , PBX1, BGLAP
3steroid32 INFREN, LMX1B, PBX1, LEP, ARSE, ARSB
4serine32 INFVLDLR, BRAF, VDR, , BMPR1B, RAD50
5estrogen32 INFBRAF, VDR, RAF1, PBX1, BGLAP, LEP
6glutamate32 INFBRAF, VDR, , LEP, MMP9, FMR1
7dexamethasone32 42 34 9 9 INFREN, VDR, RAF1, PBX1, BGLAP, LEP
8glucose32 INFBRAF, IGF2, CASR, GJA1, GHRHR, GHSR
9c-peptide32 11.0LEP, IGF2, IGFBP2, GHR, GHRL, CYP21A2
10dehydroepiandrosterone sulfate32 11.0LEP, AR, INS, IGFBP1, IGF2, IGFBP3
11clomiphene citrate32 11.0INS, IGFBP1, IGF1R, IGFBP3, IGF1, GNRH1
12dhea32 11.0LEP, AR, INS, IGFBP1, IGF2, IGFBP2
13triiodothyronine32 11.0LEP, IGFBP1, IGF2, IGFBP3, IGF1, GJA1
14hexarelin32 10.9PBX1, IGFBP3, IGF1, GH1, GHR, GHRH
15ghrp32 10.9PBX1, IGFBP3, IGF1, GH1, GHR, GHRH
16androstenedione32 18 11.8REN, PBX1, LEP, AR, INS, IGFBP1
17acth32 10.5REN, PBX1, LEP, INS, IGFBP1, IGF2
18estradiol32 9 18 9 13.5REN, PBX1, CFI, MMP13, AR, MAP2K1
19progesterone32 42 9 18 9 14.5BRAF, PBX1, ZBTB16, AR, FBN1, MAP2K1
20octreotide32 42 9 9 13.4INS, FGF23, IGFBP1, IGF1R, IGF2, IGFBP3
21bromocriptine32 9 9 12.3IGF2, IGFBP3, IGF1, GNRH1, GH1, GHR
22deoxypyridinoline32 10.2VDR, BGLAP, CD36, IGFBP1, IGFBP2, IGFBP3
23estrone32 9 18 9 13.2BGLAP, LEP, ARSE, ARSB, AR, IGFBP1
24progestin32 10.1AR, IGFBP1, IGF1R, IGF2, IGFBP2, ALPP
25pyridinoline32 10.1BGLAP, CD36, IGFBP2, IGFBP3, IGF1, ALPP
26tamoxifen32 34 9 9 12.9VDR, RAF1, BGLAP, LEP, AR, IGFBP1
27ribonucleic acid32 9.8MMP13, MMP9, IGFBP1, IGF1R, IGF2, IGFBP2
28hydrocortisone32 9 9 11.8REN, PBX1, BGLAP, CD36, INS, IGFBP1
2925-hydroxyvitamin d32 9.7VDR, BGLAP, LEP, FGF23, ALPP, CASR
30creatinine32 9.3REN, VLDLR, VDR, LEP, CFI, MMP9
31alendronate32 9 9 11.2VDR, BGLAP, CD36, MMP13, IGF1, ALPP
32phosphatidylinositol32 9.1BRAF, RAF1, LEP, MMP13, MMP9, MAP2K2
33thyroxine32 18 10.0REN, VDR, BGLAP, LEP, CFI, INS
34retinoic acid32 42 18 10.8BRAF, VDR, RAF1, RAI1, BGLAP, ZBTB16
351,25 dihydroxy vitamin d332 8.7VDR, RAF1, BGLAP, FGF23, MAP2K1, IGFBP3
36cycloheximide32 8.7VDR, RAF1, PARK7, LEP, CD36, MMP13
37calcitriol32 42 9 18 9 12.5REN, VDR, BGLAP, CFI, CD36, AR
38norepinephrine32 9 18 9 11.4REN, LEP, MMP9, INS, MAP2K1, IGFBP1
39pge232 8.4REN, RAF1, MMP13, AR, MAP2K1, IGF1R
40cysteine32 INFVDR, RAF1, BGLAP, PARK7, PAPSS2, LHX3
41forskolin32 42 9 9 INFREN, BRAF, RAF1, FMR1, MAP2K1, IGFBP1
42thymidine32 18 INFVDR, RAF1, MMP13, MAP2K1, IGFBP1, IGF1R
43dihydrotestosterone32 9 18 9 INFVDR, BGLAP, LEP, AR, MAP2K1, IGFBP1
44aspartate32 INFBRAF, VDR, , RAF1, MMP9, GNRH1
45vitamin d32 INFVDR, BGLAP, CD36, AR, FGF23, FBN1
46testosterone32 9 18 9 INFVDR, RAF1, PBX1, BGLAP, PARK7, ZBTB16
47vegf32 INFREN, BRAF, RAF1, BGLAP, LEP, CD36
48gnrh32 INFRAF1, PBX1, LHX3, LEP, AR, INS
49tyrosine32 INFVLDLR, BRAF, LMX1B, BMPR1B, RAF1, PBX1
50procollagen32 INF, BGLAP, CD36, MMP13, MMP9, IGFBP2

GO Terms for genes affiliated with Short Stature

Sources:
12Gene Ontology
See all sources

Cellular components related to short stature according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:005634INFRPS24, RPS7, RPL5, NF1, RNF168, SHOX
2endoplasmic reticulum lumenGO:00578810.5COL9A3, SIL1, LEPRE1, COL9A1, COL2A1, STS
3cytosolic small ribosomal subunitGO:02262710.3RPS19, RPS17, RPS24, RPS7, RPS10, RPS26
4collagen type IXGO:00559410.1COL9A1, COL9A3, COL9A2
5Golgi apparatusGO:00579410.0GNPTG, MAP2K1, MAP2K2, AP4S1, AP4B1, IMPAD1
6proteinaceous extracellular matrixGO:0055789.6COMP, DSPP, LEPRE1, MMP13, MMP9, FBN1
7extracellular spaceGO:005615INFGDF5, IGFBP3, IGFBP2, IGF2, IGFBP1, IHH
8extracellular regionGO:005576INFCSH1, NPPB, GAL, ALB, CXADR,
9microtubule basal bodyGO:005932INFIFT80, EVC, EVC2, IFT122, , WDR35

Biological processes related to short stature according to GeneDecks:

(show top 50)    (show all 57)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription, DNA-dependentGO:045893INFTBX5, SRY, , , COL1A1, NSD1
2small molecule metabolic processGO:044281INFARSB, ARSE, CD36, B3GAT3, B4GALT7, CHST3
3negative regulation of cell proliferationGO:008285INFTBX5, PTHLH, HRAS, GJA1, DLG3, POU1F1
4positive regulation of transcription from RNA polymerase II promoterGO:045944INFVDR, LHX3, BMP5, HOXA13, THRB, IHH
5blood coagulationGO:007596INF, HRAS, GNAS, ALB, PTPN11, NRAS
6axon guidanceGO:007411INFCOL1A1, COL9A2, COL1A2, COL9A3, COL2A1,
7positive regulation of multicellular organism growthGO:04001811.3GHSR, GH1, GHR, GHRH, STAT5B, GHRHR
8growth hormone secretionGO:03025211.1GAL, GHSR, GHRL, GHRHR, GHRH
9regulation of multicellular organism growthGO:04001411.1IGF1, PTPN11, PRL, GHR, GDF5, STAT5B
10JAK-STAT cascade involved in growth hormone signaling pathwayGO:06039711.1GHR, CSH1, PRL, PRLR, STAT5B, GH1
11organ morphogenesisGO:00988710.9HRAS, COMP, COL9A1, THRB, SOX3, EP300
12female pregnancyGO:00756510.9GNAS, LEP, STAT5B, STS, PRL, CSH1
13response to glucocorticoid stimulusGO:05138410.9GHR, IGFBP2, MAP2K1, BGLAP, GHRHR, EP300
14response to estrogen stimulusGO:04362710.9STS, EP300, GHRHR, ARSB, GAL, BGLAP
15positive regulation of insulin-like growth factor receptor signaling pathwayGO:04356810.8GH1, IGF1, IGFBP3, GHRHR, AR, GHRH
16cartilage developmentGO:05121610.8IHH, ZBTB16, BMP5, EVC, GHRL, COL2A1
17positive regulation of MAPK cascadeGO:04341010.8CD36, LEP, FGFR3, AR, INS, IGF2
18insulin receptor signaling pathwayGO:00828610.8IGFBP1, INS, KRAS, FGF23, SOS1, NRAS
19hormone-mediated signaling pathwayGO:00975510.7REN, GHRL, GHR, GHSR, PTPN11
20viral transcriptionGO:01908310.6RPL35A, RPS17, RPS26, RPS24, RPS7, RPL5
21translational terminationGO:00641510.6RPS19, RPS10, RPL5, RPS7, RPS24, RPS17
22activation of MAPKK activityGO:00018610.6RAF1, NRAS, MAP2K2, LAMTOR2
23viral infectious cycleGO:01905810.6RPL11, RPS10, RPL5, RPS26, RPS24, RPS7
24Ras protein signal transductionGO:00726510.6MAP2K1, MAP2K2, NRAS, NF1, KRAS, SOS1
25translational elongationGO:00641410.6RPS10, RPS24, RPS17, RPL35A, RPS26, RPS7
26MAPK cascadeGO:00016510.6RAF1, INS, FGFR3, MAP2K2, MAP2K1, KRAS
27SRP-dependent cotranslational protein targeting to membraneGO:00661410.6RPS17, RPS24, RPS7, RPL35A, RPL5, RPS10
28endochondral ossificationGO:00195810.6COL2A1, PTHLH, COL1A1, IMPAD1, FGFR3
29regulation of synaptic transmission, GABAergicGO:03222810.6KRAS, HRAS, NRAS, NF1
30chondroitin sulfate metabolic processGO:03020410.5B3GAT3, SDC2, HYAL1, CHST3, IMPAD1, B4GALT7
31translational initiationGO:00641310.5RPS17, RPS24, RPS7, RPL35A, RPS26, RPS10
32nuclear-transcribed mRNA catabolic process, nonsense-mediated decayGO:00018410.5RPL11, RPL5, RPS7, RPS24, RPS17, RPL35A
33prostate gland growthGO:06073610.5CYP19A1, AR, IGF1, PRLR
34ribosomal small subunit biogenesisGO:04227410.5RPS17, RPS24, RPS7, RPS19
35heart developmentGO:00750710.3TBX5, NPPB, TAZ, RAF1, VLDLR, FBN1
36positive regulation of cell proliferationGO:00828410.2KRAS, AR, STS, INS, FGFR3, IGF1R
37response to estradiol stimulusGO:03235510.2VDR, MMP9, IHH, GH1, GHR, CYP19A1
38leukocyte migrationGO:05090010.2NRAS, COL1A1, COL1A2, KRAS, CXADR, SOS1
39glycosaminoglycan metabolic processGO:03020310.2EXT2, GLB1, ACAN, GALNS, HYAL1, ARSB
40osteoblast differentiationGO:00164910.1BGLAP, RUNX2, IHH, COL1A1, TWIST1, NF1
41carbohydrate metabolic processGO:0059759.9GLB1, EXT2, EXT1, ARSB, HYAL1, ACAN
42negative regulation of apoptotic processGO:0430669.9ALB, NKX3-2, PROP1, COL2A1, GHRL, RAF1
43signal transductionGO:007165INFROR2, FGD1, IGFBP1, MAP2K1, IL2RG, AR
44fibroblast growth factor receptor signaling pathwayGO:008543INFNRAS, FGF23, PTPN11, HRAS, MAP2K2, BRAF
45response to hypoxiaGO:001666INFSDC2, STAT5B, MMP9, , CREBBP, PLOD2
46epidermal growth factor receptor signaling pathwayGO:007173INF, SOS1, KRAS, NRAS, PTPN11, HRAS
47skeletal system developmentGO:001501INFEBP, HOXA13, EVC, EXT1, IGF1, IGF2
48extracellular matrix organizationGO:030198INFMMP13, , LEPRE1, MMP9, PLOD2, COL9A3
49nerve growth factor receptor signaling pathwayGO:048011INFHRAS, MAP2K2, FGD1, RAF1, BRAF, PTPN11
50ossificationGO:001503INFRUNX2, TWIST1, DSPP, SLC26A2, EXT2, EXT1

Molecular functions related to short stature according to GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:005515INFNR0B1, MPLKIP, CDT1, CDC6, MMP9, FMR1
2extracellular matrix structural constituentGO:00520110.8COL1A1, COMP, COL1A2, DSPP, MATN3, FBN1
3extracellular matrix structural constituent conferring tensile strengthGO:03002010.6COL9A1, COL9A3, COL9A2, COL2A1
4insulin receptor bindingGO:00515810.4IGF2, IGF1R, IGF1, INS, PTPN11
5insulin-like growth factor receptor bindingGO:00515910.4REN, INS, IGF2, IGF1
6peptide hormone receptor bindingGO:0514289.9PTPN11, PTHLH, LEP, NPPB
7hormone activityGO:0051799.8SST, NPPB, CSH1, INS, PRL, PTHLH
8sequence-specific DNA binding transcription factor activityGO:003700INFLMX1B, , CREBBP, SHOX, SHOX2, HESX1
9sequence-specific DNA bindingGO:043565INFAR, HOXA13, NKX3-2, HOXD13, POU1F1, THRB

Sources for Short Stature

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS