Summaries for Dwarfism

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23MedlinePlus, 44Wikipedia, 22MalaCards
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MedlinePlus: A dwarf is a person of short stature - under 4' 10" as an adult. more than 200 different conditions can cause dwarfism. a single type, called achondroplasia, causes about 70 percent of all dwarfism. achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. it makes your arms and legs short in comparison to your head and trunk. other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature. dwarfism itself is not a disease. however, there is a greater risk of some health problems. with proper medical care, most people with dwarfism have active lives and live as long as other people.23

MalaCards: Dwarfism is related to laron dwarfism and achondroplasia. An important gene associated with Dwarfism is PCNT (pericentrin), and among its related pathways are Class B/2 (Secretin family receptors) and Association of licensing factors with the pre-replicative complex. The compounds procollagen and pegvisomant have been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and pituitary, and related mouse phenotypes are embryogenesis and respiratory system.

Wikipedia: Dwarfism (pron.: /ˈdwɔrfɪzəm/) occurs when an individual person or animal is short in stature...44 more...

Aliases & Descriptions for Dwarfism

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44Wikipedia, 17Genetics Home Reference, 32Novoseek , 23MedlinePlus
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dwarfism 44 17 32 23

Related Diseases for Dwarfism

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13GeneCards, 14GeneDecks
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Diseases related to dwarfism by text searches and GeneDecks gene sharing:

(show top 50)    (show all 427)
idRelated DiseaseScoreTop Affiliating Genes
1laron dwarfism32.1IGF1, GH1, GHR
2achondroplasia31.9FGFR1, FGFR2, FGFR3, MAP2K1, IGF1, F2RL2
3seckel syndrome31.5PCNT, RBBP8, CEP152, CENPJ, IGFBP3, IGF1
4isolated growth hormone deficiency30.9IGF1, GH1, GHRH, GHRHR, POU1F1
5cockayne syndrome30.7FGFR1, FGFR2, FGFR3
6thanatophoric dysplasia30.4FGFR2, FGFR3, PTH1R, COMP, STAT1
7hypochondroplasia30.3FGFR1, FGFR2, FGFR3, IGF1, SHOX, TKTL1
8diastrophic dysplasia30.2MATN3, CANT1, COMP, COL2A1, SLC26A2
9pseudoachondroplasia29.7MATN3, COMP, ACAN, SLC26A2
10spondyloepiphyseal dysplasia congenita29.6DDR2, COMP, COL2A1
11acromesomelic dysplasia29.5NPPC, NPR2, GDF5
12robinow syndrome29.3IGF1, GH1, ROR2, WNT5A
13laron syndrome29.1INS, IL18R1, IGFBP1, IGFBP3, IGF1, GH1
14osteoglophonic dysplasia29.1FGFR1, FGFR2, FGFR3
15x-linked spondyloepiphyseal dysplasia tarda29.1FGFR3, IGF1, TRPV4, COMP, COL2A1, ACAN
16jansen's metaphyseal chondrodysplasia27.6PTH, PTH1R, PTHLH
17achondrogenesis27.4COMP, COL2A1, SLC26A2
18meier-gorlin syndrome27.3CDT1, CDC6, SHOX, ORC4, ORC1, ORC6
19boomerang dysplasia26.4LBR, CDC6, FGFR2, FGFR3, MATN3, DYM
20congenital hypothyroidism26.4IGF1, TPO, DUOX2, TG, POU1F1
21chondrodysplasia26.2ARSE, FGFR1, FGFR2, FGFR3, MATN1, MATN3
22turner syndrome26.1IGFBP1, IGFBP3, IGF1, GH1, GHR, TPO
23hydrocephalus25.1INS, FGFR1, FGFR2, FGFR3, IGFBP1, IGFBP3
24growth hormone deficiency25.0LHX3, INS, IGFBP1, IGFBP3, IGF1, GH1
25noonan syndrome24.0INS, IL18R1, MATN1, MAP2K1, IGFBP1, IGFBP3
26hypothyroidism23.4PCSK2, PCSK1, LHX3, INS, IGFBP3, IGF1
27infertility22.2KDM6A, INS, FGFR3, IL18R1, IGFBP1, IGFBP3
28short stature22.0LHX3, CDT1, CDC6, ARSE, INS, FGFR3
29thyroiditis21.6PCSK2, PCSK1, GCG, LHX3, LBR, FOXA2
30neuronitis16.7PCSK2, PCSK1, PCNT, GCG, RBBP8, LHX3
31growth disorders13.9FGFR3, IGFBP3, IGF1, GH1, GHR, GHRH
32septooptic dysplasia13.9LHX3, GH1, PROP1, POU1F1
33jackson-weiss syndrome13.9FGFR1, FGFR2, FGFR3
34fgfr-related craniosynostosis syndromes13.9FGFR1, FGFR2, FGFR3
35insulin-like growth factor 1 resistance to13.9IGFBP3, IGF1, GH1
36muenke syndrome13.9FGFR1, FGFR2, FGFR3
37relapsing polychondritis13.9MATN1, COMP, COL2A1
38plagiocephaly13.9FGFR1, FGFR2, FGFR3
39idiopathic juvenile osteoporosis13.9IGFBP3, IGF1, GH1
40cerebellar hypoplasia13.8LHX3, FGFR2, GH1, GHRH, GHRHR, PROP1
41osteopenia/osteoporosis13.8IGFBP3, IGF1, GH1, PTHLH
42metaphyseal dysplasia13.8MATN3, PTH, PTH1R, PTHLH, COL2A1
43pseudohypoparathyroidism type ib13.8PTH, PTH1R, PTHLH
44hypophosphatemia13.8IL18R1, GH1, PTH, PTH1R, PTHLH
45sponastrime dysplasia13.8MATN3, DYM, COMP
46crouzon syndrome13.8FGFR1, FGFR2, FGFR3
47osteochondrodysplasia13.8FGFR3, PTH1R, PTHLH, COMP, SOX9, SLC26A2
48acrocephalosyndactylia13.8FGFR1, FGFR2, FGFR3
49arthropathy13.8IGF1, GH1, TRPV4, COMP, COL2A1, ACAN
50metaphyseal chondrodysplasia13.8PTH, PTH1R, PTHLH

Graphical network of the top 20 diseases related to dwarfism:



Graphical network of diseases related to dwarfism

Clinical Features for Dwarfism

Drugs & Therapeutics for Dwarfism

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

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Genetic Tests for Dwarfism

Anatomical Context for Dwarfism

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22MalaCards
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MalaCards organs/tissues related to dwarfism:

22
Kidney, Thyroid, Pituitary

Phenotypes for genes affiliated with Dwarfism

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25MGI
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MGI Mouse Phenotypes related to dwarfism:

25 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1embryogenesis phenotypeMP:0005380INFFOXO1, IGF2BP1, PTH1R, TBX15, WNT5A, ROR2
2respiratory system phenotypeMP:00053889.3NPR2, PROP1, STAT5B, COL2A1, NOS1, PTH1R
3hearing/vestibular/ear phenotypeMP:00053778.9LHX3, WNT5A, IGF1, THRA, FGFR1, FGFR2
4endocrine/exocrine gland phenotypeMP:00053798.8DUOX2, PTH, SMPD3, THRA, STC1, PROP1
5renal/urinary system phenotypeMP:00053678.8TRPV4, GHR, IGF2BP1, FGFR3, FGFR1, INS
6muscle phenotypeMP:00053698.5IGF1, PCSK1, IGFBP3, IGF2BP1, FGFR2, FGFR1
7hematopoietic system phenotypeMP:00053978.4FGFR3, PTHLH, PTH, ERCC6, ERCC8, ERCC5
8limbs/digits/tail phenotypeMP:00053718.3PCNT, LBR, FGFR1, FGFR2, FGFR3, IGF2BP1
9liver/biliary system phenotypeMP:00053708.2THRA, FOXA2, INS, IGFBP1, GH1, ERCC4
10craniofacial phenotypeMP:00053827.7DYM, NPR2, SLC26A2, ROR2, NEK1, WNT5A
11vision/eye phenotypeMP:00053917.4NOS1, LBR, DSG3, THRA, COL2A1, DDR2
12adipose tissue phenotypeMP:00053757.3GHRHR, GHR, GH1, IGF1, FGFR2, INS
13digestive/alimentary phenotypeMP:00053816.9FGFR1, FOXA2, FOXO1, INS, FGFR2, THRA
14cardiovascular system phenotypeMP:00053856.6IGF1, MAP2K1, FGFR2, FGFR1, PTH, GHR
15skeleton phenotypeMP:00053906.6FOXA2, INS, DUOX2, PTH, PTH1R, PTHLH
16reproductive system phenotypeMP:00053896.6DUOX2, TBX15, SMPD3, THRA, STC1, STAT5B
17integument phenotypeMP:00107716.4TBX15, FOXA2, BLM, PCSK2, PLCG1, LBR
18behavior/neurological phenotypeMP:00053865.5NPR2, PTHLH, SOX9, GHRHR, GHR, PCSK2
19immune system phenotypeMP:00053874.7FOXA2, GHR, FOXO1, LBR, BLM, PCSK1
20homeostasis/metabolism phenotypeMP:00053763.4FOXA2, LBR, LHX3, GCG, PCSK1, PCSK2
21growth/size phenotypeMP:00053783.2STAT1, STC1, TG, DSG3, TKTL1, HES7
22cellular phenotypeMP:0005384INFWNT5A, STAT5B, FGFR1, INS, FOXO1, FOXA2
23mortality/agingMP:0010768INFGDF5, PCSK2, FGFR3, IGF2BP1, EVC, HOXA5
24nervous system phenotypeMP:0003631INFTHRA, TG, STAT1, PRL, PROP1, PTHLH
25tumorigenesisMP:0002006INFFGFR3, FOXO1, ERCC6, BLM, , ERCC2

Publications for genes affiliated with Dwarfism

Sources:
35PubMed
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Articles related to dwarfism:

(show top 50)    (show all 71)
idTitleAuthorsYearAffiliating Genes
1Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. (21358633)Bicknell L.S.... Jeggo P.A.2011ORC1
2A homozygous mutation in RNU4ATAC as a cause of micro cephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pi gmentary disorder. (21990275)Abdel-Salam G.M.... Matsumoto N.2011RNU4ATAC
3Treatment of dwarfism with recombinant human insulin- like growth factor-1. (19946434)Ranke M.B.... Bettendorf M.2009IGF1
4Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. (18174396)Rauch A.... Reis A.2008PCNT
5Genetics. Dwarfism, where pericentrin gains stature. (18258883)Delaval B.... Doxsey S.2008PCNT
6Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1. (17561467)Harada D.... Tanaka H.2007FGFR3, STAT1, PLCG1
7Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2. (17440044)Johnson K.R.... Donahue L.R.2007TPO, TG, DUOX2
8An active DNA transposon nDart causing leaf variegation and mutable dwarfism and its related elements in rice. (16367953)Tsugane K.... Iida S.2006TMPRSS11D
9A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn/cn mouse. (15722353)Tsuji T.... Kunieda T.2005NPR2
10Mesomelic dwarfism in pseudoachondroplasia. (15552564)Song H.R.... Jung S.C.2004COMP, MATN1
11SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. (15214013)Thomas N.S.... Castle B.2004SHOX
12Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. (14871928)Murakami S.... de Crombrugghe B.2004FGFR3, MAP2K1
13Dwarfism and impaired gut development in insulin-like growth factor II mRNA-binding protein 1-deficient mice. (15121863)Hansen T.V.... Nielsen F.C.2004IGF2BP1
14Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. (12816345)Aviezer D.... Yayon A.2003FGFR3
15Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. (12734191)Elzaouk L.... Thony B.2003IGF1, NOS1
16Hoxa5 overexpression correlates with IGFBP1 upregulation and postnatal dwarfism: evidence for an interaction between Hoxa5 and Forkhead box transcription factors. (12163409)Foucher I.... Trembleau A.2002FOXA2, FOXO1, HOXA5
17The bovine fibroblast growth factor receptor 3 (FGFR3) gene is not the locus responsible for bovine chondrodysplastic dwarfism in Japanese brown cattle. (12354143)Takami M.... Kunieda T.2002FGFR3
18Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism. (12136126)Takeda H.... Kunieda T.2002EVC2
19A targeted dominant negative mutation of the thyroid hormone alpha 1 receptor causes increased mortality, infertility, and dwarfism in mice. (11734632)Kaneshige M.... Cheng S.2001THRA
20Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis (10932008)Zhang Y.... Fan M.2000FGFR3
21A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors. (9887329)Li C.... Deng C.X.1999FGFR3
22Familial dwarfism due to a novel mutation of the growth hormone- releasing hormone receptor gene. (10084571)Salvatori R.... Levine M.A.1999GHRHR
23Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans. (10549302)Baumann G.1999GHRHR
24Megalencephaly, hydrocephalus and cortical dysplasia in severe dwarfism mimicking leprechaunism. (9560023)Hayashi M.... Morimatsu Y.1998INS
25A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism. (9258809)Putzolu M.... Moi P.1997GHR
26Pituitary dwarfism in the R271W Pit-1 gene mutation. (9392392)Aarskog D.... Myking O.L.1997GH1, POU1F1
27Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. (9069288)Su W.C.... Fu X.Y.1997STAT1
28Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism. (8931705)Raskin S.... Phillips J.A.1996POU1F1
29Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). (8845844)Rousseau F.... Bonaventure J.1996FGFR3
30Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. (8723101)Bonaventure J.... Maroteaux P.1996FGFR3, TKTL1
31Growth hormone receptor and dwarfism (7939185)Postel-Vinay M.C.1994GHR
32Laron dwarfism in the Arabian Gulf: a report of a sibship. (7505559)Zaki M.... Ramadan D.G.1993IGF1
33IGF binding protein 3 in patients with Laron type dwarfism: effect of exogenous rIGF-I. (1373347)Laron Z.... Ranke M.B.1992IGF1, IGFBP3, GHR
34Effect of insulin-like growth factor I on the thyroid axis in patients with Laron-type dwarfism and healthy subjects. (1362849)Klinger B.... Laron Z.1992IGF1
35Effects of insulin-like growth factor on linear growth, head circumference, and body fat in patients with Laron-type dwarfism. (1349669)Laron Z.... Klinger B.1992IGF1
36Serum prolactin in patients with Laron-type dwarfism: effect of insulin-like growth factor I. (1490658)Silbergeld A.... Laron Z.1992IGF1, PRL
37Laron-type dwarfism with apparently normal high affinity serum growth hormone-binding protein. (1934534)Buchanan C.R.... Preece M.A.1991IGF1
38A case of dwarfism with severely reduced activity of growth hormone-binding protein (1752341)Igarashi N.... Sato T.1991GHR
39GH-secretion capacity in Turner syndrome and its relations to clinical characteristics and effect of GH treatment--a comparison with pituitary dwarfism. The Committee for hGH treatment in Turner syndrome (1868920)Tanaka T.... Shizume K.1991GH1
40Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. (1999489)Amselem S.... Goossens M.1991GHR, GH1
41Effects of the infusion of insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron dwarfism). (2023608)Walker J.L.... Underwood L.E.1991IGF1
42Laron type dwarfism. Study of GH binding protein in 3 cases (2018424)Aguirre A.... Chaussain J.L.1991GHR, GH1
43Biochemical and hormonal changes induced by one week of administration of rIGF-I to patients with Laron type dwarfism. (1934530)Laron Z.... Erster B.1991IGF1
44High-affinity serum growth-hormone-binding protein, absent in Laron-type dwarfism, is diminished in heterozygous parents. (2074091)Aguirre A.... Job J.C.1990GHR
45Laron-type dwarfism: heterogeneity of the biochemica l abnormality in 3 children and their parents (2128202)Aguirre A.... Chaussain J.L.1990GH1
46A case of recessive dystrophic epidermolysis bullosa associated with dwarfism with special reference to pathophysiological role of growth hormone (2332081)Nakamura F.... Yoshikawa K.1990GHRH
47Glycine to serine substitution in the triple helical domain of pro- alpha 1 (II) collagen results in a lethal perinatal form of short- limbed dwarfism. (2572591)Vissing H.... Hollister D.W.1989COL2A1
48Laron-type dwarfism is associated with normal growth hormone and insulin-like growth factor I gene restriction patterns. (2567724)Russell R.E.... Laron Z.1989IGF1
49Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron- type dwarfism. (2813379)Godowski P.J.... Wood W.I.1989GHR
50Laron dwarfism and mutations of the growth hormone-receptor gene. (2779634)Amselem S.... Goossens M.1989GHR

Expression for genes affiliated with Dwarfism

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

Pathways for genes affiliated with Dwarfism

Sources:
38Reactome, 36QIAGEN, 20KEGG, 41Thomson Reuters, 10EMD Millipore
See all sources

Pathways related to dwarfism according to GeneDecks:

(show top 50)    (show all 73)
idPathwayScoreTop Affiliating Genes
1Class B/2 (Secretin family receptors)3810.6WNT5A, GHRH, PTHLH, PTH1R, PTH, GHRHR
2Association of licensing factors with the pre-replicative complex3810.5CDC6, CDT1, ORC4, ORC1
3Apoptotic Pathways in Synovial Fibroblasts3610.4GDF5, GHRH, GH1, IGF1, FGFR3, FGFR1
4TGF-Beta Pathway3610.4FGFR1, GHRH, GH1, MAP2K1, IL18R1, FGFR3
5PPAR Pathway3610.4FGFR3, MAP2K1, IGF1, GH1, FGFR1, GDF5
6Pathways in cancer2010.3FGFR3, FOXO1, FGFR1, WNT5A, FGFR2
7Cell cycle_Start of DNA replication in early S phase4110.3ORC1, CDC6, CDT1, ORC6, ORC4
8DHA Signaling3610.3FGFR3, IGF1, FGFR2, FOXO1, FGFR1, GH1
9Cell cycle Start of DNA replication in early S phase1010.2ORC4, ORC1, ORC6, CDT1, CDC6
10Rac1 Pathway3610.2FGFR1, GHRH, FGFR2, GDF5, FGFR3, MAP2K1
11PTEN Pathway3610.2GHRH, GH1, FGFR3, FGFR2, FGFR1, PLCG1
12Ras Pathway3610.1FGFR1, DDR2, GHRH, MAP2K1, ROR2, GDF5
13Activation of PKC through GPCR3610.1GHRH, FGFR1, FGFR2, FGFR3, MAP2K1, IGF1
14Renin-Angiotensin Pathway3610.1GHRH, GH1, PLCG1, FGFR3, FGFR2, STAT1
15Growth Hormone Signaling3610.1GH1, GHR, IGF1, STAT1, PLCG1, STAT5B
16Rap1 Pathway3610.1FGFR1, FGFR2, FGFR3, GHRH, GDF5, PLCG1
17Paxillin Interactions3610.1FGFR3, FGFR2, FGFR1, GH1, GDF5, ROR2
18Molecular Mechanisms of Cancer3610.0MAP2K1, GDF5, ROR2, COL2A1, DDR2, FGFR2
19JNK Pathway3610.0GHRH, GDF5, ROR2, DDR2, IL18R1, FGFR3
20CREB Pathway3610.0GH1, FGFR1, FGFR3, FGFR2, MAP2K1, IGF1
21Meiosis1010.0CDT1, BLM, CDC6, ORC1, ORC6, ORC4
22eIF2 Pathway3610.0FGFR3, MAP2K1, IGF1, GH1, INS, GHRH
23Akt Signaling3610.0GDF5, FOXO1, FGFR1, IL18R1, DDR2, FGFR3
24Nanog in Mammalian ESC Pluripotency369.9GH1, ROR2, MAP2K1, FGFR1, FGFR2, IGF1
25Development_FGF-family signaling419.9FGFR1, PLCG1, FGFR2, FGFR3, MAP2K1
26GSK3 Signaling369.9FGFR1, WNT5A, ROR2, DDR2, FGFR2, GHRH
27p53 Mediated Apoptosis369.9IGF1, GH1, GHRH, GDF5, FGFR3, FGFR2
28Nucleotide excision repair209.9ERCC4, ERCC6, ERCC8, ERCC3, ERCC2, ERCC5
29Tec Kinases Signaling369.8STAT5B, STAT1, PLCG1, GHRH, GH1, IGF1
3014-3-3 Induced Intracellular Signaling369.8FGFR3, MAP2K1, IGF1, FGFR2, GHRH, DDR2
31Breast Cancer Regulation by Stathmin1369.8PLCG1, ROR2, GDF5, GHRH, DDR2, FGFR2
32Prostate cancer209.8MAP2K1, IGF1, FGFR1, INS, FOXO1, FGFR2
33Pancreatic Adenocarcinoma369.8GHRH, IGF1, MAP2K1, FGFR3, FGFR2, FGFR1
34GPCR Pathway369.7IGF1, GDF5, ROR2, STAT5B, STAT1, FGFR3
35eNOS Signaling369.7GH1, GDF5, GHRH, NPR2, PLCG1, DDR2
36NFAT in Immune Response369.7FGFR3, PLCG1, DDR2, GHRH, GH1, ROR2
37Intracellular Calcium Signaling369.7ROR2, GDF5, FGFR1, FGFR2, FGFR3, IGF1
38Rho Family GTPases369.7MAP2K1, IGF1, GH1, DDR2, COL2A1, ROR2
39p70S6K Signaling369.7IGF1, MAP2K1, FGFR3, FGFR2, INS, GH1
40p38 Signaling369.6IL18R1, IGF1, GH1, GDF5, ROR2, STAT1
41Estrogen Pathway369.6FGFR3, DDR2, FGFR2, GDF5, IGF1, ROR2
42P2Y Receptor Signaling369.6FGFR2, FGFR1, FGFR3, DDR2, PLCG1, ROR2
43ERK Signaling369.6DDR2, PLCG1, GDF5, COL2A1, ROR2, STAT1
44Activation of PKA through GPCR369.4IGF1, MAP2K1, FGFR3, FGFR2, FGFR1, GCG
45MAPK Signaling369.3GDF5, FGFR1, FGFR2, FGFR3, MAP2K1, GH1
46Activation of cAMP-Dependent PKA369.3GCG, GHRH, PLCG1, FGFR3, GDF5, DDR2
47Development_Prolactin receptor signaling419.2PRL, GH1, STAT5B, STAT1, PLCG1, MAP2K1
48Development Prolactin receptor signaling109.2STAT5B, PRL, STAT1, MAP2K1, GH1, PLCG1
49JAK-STAT Pathway368.8GHRH, GHR, IL18R1, GH1, F2RL2, IGF1
50Jak-STAT signaling pathway208.6PRL, TPO, STAT5B, STAT1, GHR, SPRED2

Compounds for genes affiliated with Dwarfism

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

Compounds related to dwarfism according to GeneDecks:

(show top 50)    (show all 137)
idCompoundScoreTop Affiliating Genes
1procollagen32 10.4COL2A1, SERPINH1, IL18R1, IGF1, GH1, GHR
2pegvisomant32 9 9 12.3GHR, IGFBP1, IGFBP3, GHRH, IGF1, GH1
3pyridinoline32 10.1COL2A1, COMP, IGFBP3, IGF1, GH1, PTHLH
4ghrp32 9.9IGFBP3, IGF1, GHR, PRL, GHRHR, GHRH
5hexarelin32 9.9IGF1, IGFBP3, GHR, GHRHR, GH1, PRL
6bromocriptine32 9 9 11.6GH1, PRL, GHRH, POU1F1
7lanreotide32 9.6PRL, GHRH, GHR, GH1, IGF1, IGFBP3
8pyridostigmine32 9 9 11.5IGFBP3, GH1, IGFBP1, IGF1, GHRH, PRL
9naltrexone32 34 9 9 12.4GH1, PRL, IGFBP3, GHRH, IGF1, LBR
10vitamin d32 9.3LBR, FGFR2, IGFBP1, IGFBP3, IGF1, GH1
11glucose32 9.3STC1, TKTL1, COMP, PTHLH, PTH, GHRHR
12calcitriol32 42 9 18 9 13.2IL18R1, IGFBP1, IGFBP3, IGF1, GHR, PTH
13gnrh32 9.2IGFBP3, GHRH, IGF1, IGFBP1, FGFR1, INS
14c-peptide32 9.2PCSK1, GHR, PCSK2, FOXA2, GCG, TPO
15oligonucleotide32 9.1ERCC5, GHR, GH1, CANT1, SERPINH1, CDC6
16thymidine32 18 10.1IGFBP1, MAP2K1, IL18R1, FGFR2, FGFR1, LBR
17estradiol32 9 18 9 12.0STS, MAP2K1, PRL, THRA, GHRH, IGFBP1
18forskolin32 42 9 9 12.0PTHLH, TPO, GHRHR, GHRH, PTH1R, MAP2K1
19clomiphene citrate32 8.9INS, PRL, GH1, IGF1, IGFBP3, IGFBP1
20progesterone32 42 9 18 9 12.9PCSK1, FOXO1, FGFR1, FGFR2, MAP2K1, HOXA5
21dehydroepiandrosterone sulfate32 8.8PTH, GH1, STS, IGFBP3, IGFBP1, INS
22creatinine32 8.8GH1, PTHLH, GHR, TPO, CANT1, NPPC
23androstenedione32 18 9.7GHR, INS, IGFBP1, IGFBP3, IGF1, PRL
24nitric oxide32 9 18 9 11.6SERPINH1, GHR, MATN1, NPPC, NPR2, CANT1
25tamoxifen32 34 9 9 11.6PRL, STS, NOS1, PTHLH, PTH, IGFBP1
26atp32 8.5CANT1, FGFR2, GHR, ERCC3, NPR2, BLM
27glutamate32 8.5ACAN, IGFBP3, MAP2K1, IL18R1, FGFR3, IGFBP1
28ibmx32 8.4GCG, IGF1, PTH, PTH1R, PTHLH, INS
29steroid32 8.3LBR, ARSE, FGFR2, IL18R1, MAP2K1, IGFBP1
30octreotide32 42 9 9 11.2GHR, GHRH, PTHLH, TG, PRL, GH1
31adenylate32 8.1FGFR1, FGFR2, IL18R1, NPPC, TG, PLCG1
32cysteine32 8.1FGFR1, LHX3, PLCG1, IL18R1, LBR, STS
33genistein32 9 18 9 10.9MAP2K1, GH1, TPO, PLCG1, NOS1, TG
34triiodothyronine32 7.8PRL, GH1, PCSK2, IGFBP1, IGFBP3, IGF1
35thyroxine32 18 8.8INS, GH1, TPO, IGF1, IGFBP3, IGFBP1
36acth32 7.7PCSK1, PCSK2, IGFBP1, TPO, NPPC, POU1F1
37vegf32 7.7FGFR1, PLCG1, NOS1, IGFBP1, TG, FGFR2
38cycloheximide32 7.7MAP2K1, GHRH, GHR, GCG, GH1, IGF1
39ribonucleic acid32 7.6GHRH, TPO, GHRHR, GHR, GH1, IGF1
40norepinephrine32 9 18 9 10.4IGFBP3, IGFBP1, MAP2K1, LBR, GCG, NOS1
41alanine32 7.4PLCG1, NOS1, COL2A1, TG, STAT5B, POU1F1
42dexamethasone32 42 34 9 9 11.2PTH, PTH1R, PTHLH, PLCG1, NOS1, COL2A1
43calcium32 9 18 9 9.7WNT5A, PTH1R, PTH, DUOX2, TPO, TRPV4
44testosterone32 9 18 9 9.7MAP2K1, FGFR2, FGFR1, FOXO1, INS, LBR
45lipid32 6.6PTHLH, COL2A1, PLCG1, SMPD3, GH1, GHRH
46estrogen32 6.3IL18R1, THRA, TG, STC1, STAT1, STAT5B
47retinoic acid32 42 18 8.3WNT5A, NPPC, POU1F1, SOX9, STS, STAT5B
48arginine32 6.0GCG, LBR, INS, FGFR3, IL18R1, MAP2K1
49tyrosine32 5.7FOXO1, LHX3, LBR, INS, FGFR1, FGFR2
50serine32 5.5NPPC, SOX9, PROP1, STS, STAT5B, STAT1

GO Terms for genes affiliated with Dwarfism

Sources:
12Gene Ontology
See all sources

Cellular components related to dwarfism according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:005634INFBLM, IGFBP3, IGF2BP1, MAP2K1, FGFR2, FGFR1
2origin recognition complexGO:00080810.3ORC4, ORC6, ORC1
3nuclear origin of replication recognition complexGO:00566410.1ORC1, ORC4, ORC6
4holo TFIIH complexGO:0056759.8ERCC5, ERCC2, ERCC3
5endoplasmic reticulum lumenGO:0057889.1PPIB, INS, ARSE, SERPINH1, GCG, COL2A1
6secretory granuleGO:0301418.5GCG, INS, PCSK1, PCSK2, GHRHR
7nucleoplasmGO:0056548.3ERCC4, ERCC6, THRA, STAT1, STAT5B, ORC4
8extracellular spaceGO:0056158.1IGFBP1, WNT5A, NPPC, STC1, PTHLH, PCSK2
9extracellular regionGO:0055767.5GHRH, IGF1, GCG, INS, FGFR1, FGFR2

Biological processes related to dwarfism according to GeneDecks:

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of insulin-like growth factor receptor signaling pathwayGO:04356810.8IGFBP3, GH1, GHRHR, GHRH, IGF1
2adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00718910.7GHRHR, PTHLH, PTH1R, PTH, GHRH
3positive regulation of phospholipase activityGO:01051810.7FGFR1, FGFR2, FGFR3
4chondrocyte differentiationGO:00206210.6COL2A1, FGFR1, FGFR3, PTH1R
5lung-associated mesenchyme developmentGO:06048410.6FGFR2, FGFR1, HOXA5
6positive regulation of mesenchymal cell proliferationGO:00205310.5STAT1, SOX9, FGFR1, FGFR2
7positive regulation of multicellular organism growthGO:04001810.5STAT5B, GHRHR, GHRH, GHR, GH1
8limb bud formationGO:06017410.5SOX9, COL2A1, FGFR2
9lung alveolus developmentGO:04828610.5IGF1, FGFR2, HOXA5, PTHLH, WNT5A
10JAK-STAT cascadeGO:00725910.5STAT5B, STAT1, GHR, GH1, FGFR3
11endochondral bone growthGO:00341610.5DDR2, FGFR3, EVC
12positive regulation of cAMP biosynthetic processGO:03081910.4PTHLH, GHRHR, GHRH, GCG, PTH
13cartilage condensationGO:00150210.3SOX9, ROR2, THRA, COL2A1
14cartilage developmentGO:05121610.3SOX9, EVC, GDF5, WNT5A, COL2A1
15ossificationGO:00150310.3NPR2, THRA, DDR2, STC1, SOX9, NPPC
16bone mineralizationGO:03028210.2PTH1R, DUOX2, ERCC2, FGFR2
17positive regulation of phosphatidylinositol 3-kinase cascadeGO:01406810.2INS, FGFR1, IGF1, GH1, SOX9
18multicellular organism growthGO:03526410.2DUOX2, ERCC2, ERCC5, IGF1, PCNT, FGFR2
19nucleotide-excision repair, DNA incisionGO:03368310.2ERCC3, ERCC4, ERCC2
20response to UVGO:00941110.2ERCC5, ERCC8, ERCC6, ERCC4, ERCC3
21response to glucocorticoid stimulusGO:05138410.2GHRHR, WNT5A, MAP2K1, GHR, PCSK1
22skeletal system developmentGO:00150110.2COL2A1, PTH, EVC, IGF1, MATN3, FGFR3
23positive regulation of MAPK cascadeGO:04341010.1FGFR2, FGFR3, IGFBP3, IGF1, INS, FGFR1
24negative regulation of cell proliferationGO:00828510.1FGFR2, MAP2K1, IGFBP3, IGF1, PTH1R, POU1F1
25UV protectionGO:00965010.1ERCC4, ERCC5, ERCC2
26M/G1 transition of mitotic cell cycleGO:00021610.1CDC6, ORC4, ORC1, ORC6, CDT1
27nucleotide-excision repair, DNA damage removalGO:00071810.0ERCC3, ERCC5, ERCC4, ERCC2
28DNA replicationGO:00626010.0CDT1, CDC6, ORC4, ORC1, ORC6, IGF1
29fibroblast growth factor receptor signaling pathwayGO:00854310.0FGFR2, FOXO1, FGFR1, PLCG1, MAP2K1, FGFR3
30thyroid gland developmentGO:0308789.9TG, THRA, DUOX2, HOXA5
31positive regulation of glycogen biosynthetic processGO:0457259.9INS, PTH, IGF1
32transcription-coupled nucleotide-excision repairGO:0062839.9ERCC5, ERCC8, ERCC4, ERCC6, ERCC3, ERCC2
33nucleotide-excision repairGO:0062899.8ERCC2, ERCC4, ERCC6, ERCC3, ERCC8, ERCC5
34cell-cell signalingGO:0072679.8FGFR2, GDF5, STC1, PTHLH, PTH, PCSK1
35positive regulation of cell proliferationGO:0082849.7FGFR3, MLL2, INS, PTHLH, FGFR1, FGFR2
36JAK-STAT cascade involved in growth hormone signaling pathwayGO:0603979.7STAT5B, STAT1, GHR, GH1, PRL
37insulin receptor signaling pathwayGO:0082869.6FOXO1, INS, FGFR2, FGFR3, MAP2K1, IGFBP1
38hormone biosynthetic processGO:0424469.6TPO, DUOX2, TG
39regulation of multicellular organism growthGO:0400149.5NPPC, PRL, GHR, IGF1, FGFR2, GDF5
40endocrine pancreas developmentGO:0310189.5INS, FOXA2, FOXO1, SOX9
41mitotic cell cycleGO:0002789.5CENPJ, ORC1, PCNT, CEP152, CDC6, ORC4
42positive regulation of transcription, DNA-dependentGO:0458939.3BLM, LHX3, FOXO1, WNT5A, ROR2, SOX9
43negative regulation of apoptotic processGO:0430669.2GCG, LHX3, FGFR1, ERCC2, ERCC5, INS
44positive regulation of transcription from RNA polymerase II promoterGO:0459448.5FOXA2, FOXO1, MLL2, STAT1, ERCC3, LHX3
45DNA repairGO:006281INFERCC6, ERCC4, ERCC8, ERCC5, ERCC3, ERCC2
46cell cycle checkpointGO:000075INFERCC2, ORC6, , ORC1, ORC4, ERCC3

Molecular functions related to dwarfism according to GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00500710.4FGFR1, FGFR2, FGFR3
2peptide hormone receptor bindingGO:05142810.2PTHLH, PTH, NPPC
3protein tyrosine kinase activityGO:00471310.1FGFR1, NEK1, FGFR2, FGFR3, MAP2K1
4DNA-dependent ATPase activityGO:0080949.7ERCC6, ERCC8, ERCC3, ERCC2
5protein N-terminus bindingGO:0474859.2ERCC5, ERCC2, ERCC3, ERCC4, ERCC6
6hormone activityGO:0051798.2INS, GCG, IGF1, GH1, PTH, PTHLH
7protein bindingGO:005515INFERCC8, MATN3, MAP2K1, MATN1, FGFR3, FGFR2

Sources for Dwarfism

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