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Disease relevance of Dwarfism


Psychiatry related information on Dwarfism


High impact information on Dwarfism

  • The mutation confers a phenotype including marked microcephaly (head circumference 12 s.d. below the mean) and dwarfism (5 s.d. below the mean) [8].
  • Here, we report large-scale deletions (in seven families) and a nonsense mutation (in one family) of SHOX in patients with DCS and show that Langer mesomelic dwarfism results from homozygous mutations at the DCS locus [9].
  • Heterozygous mutations in SOX9 lead to a human dwarfism syndrome, Campomelic dysplasia [10].
  • TD, characterized by neonatal lethality and profound dwarfism, is the result of FGFR3 mutations, including an R248C substitution in the extracellular domain or a K650E substitution in the tyrosine kinase (TK) domain [11].
  • The cpd mutant displays de-etiolation and derepression of light-induced genes in the dark, as well as dwarfism, male sterility, and activation of stress-regulated genes in the light [12].

Chemical compound and disease context of Dwarfism

  • Anterior pituitary hypoplasia and dwarfism in mice lacking the dopamine transporter [13].
  • Deletion of the dopamine transporter (DAT) results in increased dopaminergic tone, anterior pituitary hypoplasia, dwarfism, and an inability to lactate [13].
  • The disease-resistant Arabidopsis thaliana aberrant growth and death2 (agd2-1) mutant has elevated levels of the defense signal salicylic acid (SA), altered leaf morphology, and mild dwarfism [14].
  • Oral supplementation of BH(4) and neurotransmitter precursors completely rescued dwarfism and phenylalanine metabolism [15].
  • Two male patients, aged 6 and 25, both with normal intelligence and absence of neurological abnormalities, exhibited dysostosis multiplex, dwarfism, odontoid anomalies, cloudy corneas, exessive excretion of keratan sulfate, and abnormal urinary oligosaccharides [16].

Biological context of Dwarfism


Anatomical context of Dwarfism


Gene context of Dwarfism

  • Smad6/Smurf1 overexpression in cartilage delays chondrocyte hypertrophy and causes dwarfism with osteopenia [27].
  • Dwarfism could be rescued by the application of brassinolide, suggesting that DWF4 plays a role in brassinosteroid (BR) biosynthesis [28].
  • The Nppc(-/-) mice show severe dwarfism as a result of impaired endochondral ossification [29].
  • Disruption of PC1/3 expression in mice causes dwarfism and multiple neuroendocrine peptide processing defects [30].
  • Hip1-related mutant mice grow and develop normally but have accelerated spinal abnormalities and dwarfism in the absence of HIP1 [31].

Analytical, diagnostic and therapeutic context of Dwarfism

  • Loss of the entire ERECTA family genes led to striking dwarfism, reduced lateral organ size and abnormal flower development, including defects in petal polar expansion, carpel elongation, and anther and ovule differentiation [32].
  • The hepatic radioreceptor assay for hGH has been applied to the detection of hGH in the sera of patients with high growth hormone dwarfism (Laron dwarfism) [33].
  • These rats show reduced pituitary size, GH deficiency, and dominant dwarfism, but are large enough for serial blood sampling studies to examine their spontaneous GH secretion and responses to GRF, somatostatin, and GH-releasing peptide-6 (GHRP-6) [34].
  • Ketamine induction for cesarean section in a patient with acute intermittent porphyria and achondroplastic dwarfism [35].
  • The main features are intrauterine growth failure with very low birthweight; disproportionate dwarfism with predominantly distal shortening of limbs; small cubitally inclined clenched hands; microcephaly with Seckel-like facies and delayed psychomotor development [36].


  1. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Colvin, J.S., Bohne, B.A., Harding, G.W., McEwen, D.G., Ornitz, D.M. Nat. Genet. (1996) [Pubmed]
  2. MT1-MMP-deficient mice develop dwarfism, osteopenia, arthritis, and connective tissue disease due to inadequate collagen turnover. Holmbeck, K., Bianco, P., Caterina, J., Yamada, S., Kromer, M., Kuznetsov, S.A., Mankani, M., Robey, P.G., Poole, A.R., Pidoux, I., Ward, J.M., Birkedal-Hansen, H. Cell (1999) [Pubmed]
  3. Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism. Su, W.C., Kitagawa, M., Xue, N., Xie, B., Garofalo, S., Cho, J., Deng, C., Horton, W.A., Fu, X.Y. Nature (1997) [Pubmed]
  4. Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions. Potter, L.R., Abbey-Hosch, S., Dickey, D.M. Endocr. Rev. (2006) [Pubmed]
  5. Association of parvoviruses with rheumatoid arthritis of humans. Simpson, R.W., McGinty, L., Simon, L., Smith, C.A., Godzeski, C.W., Boyd, R.J. Science (1984) [Pubmed]
  6. The Dyggve-Melchior-Clausen syndrome. Spranger, J., Maroteaux, P., Der Kaloustian, V.M. Radiology. (1975) [Pubmed]
  7. Dysfunction of the hypothalamic-pituitary system in mitochondrial encephalomyopathies. Ohkoshi, N., Ishii, A., Shiraiwa, N., Shoji, S., Yoshizawa, K. Journal of medicine. (1998) [Pubmed]
  8. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. O'Driscoll, M., Ruiz-Perez, V.L., Woods, C.G., Jeggo, P.A., Goodship, J.A. Nat. Genet. (2003) [Pubmed]
  9. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M., Le Merrer, M., Munnich, A., Cormier-Daire, V. Nat. Genet. (1998) [Pubmed]
  10. Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds. Morais da Silva, S., Hacker, A., Harley, V., Goodfellow, P., Swain, A., Lovell-Badge, R. Nat. Genet. (1996) [Pubmed]
  11. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Naski, M.C., Wang, Q., Xu, J., Ornitz, D.M. Nat. Genet. (1996) [Pubmed]
  12. Brassinosteroids rescue the deficiency of CYP90, a cytochrome P450, controlling cell elongation and de-etiolation in Arabidopsis. Szekeres, M., Németh, K., Koncz-Kálmán, Z., Mathur, J., Kauschmann, A., Altmann, T., Rédei, G.P., Nagy, F., Schell, J., Koncz, C. Cell (1996) [Pubmed]
  13. Anterior pituitary hypoplasia and dwarfism in mice lacking the dopamine transporter. Bossé, R., Fumagalli, F., Jaber, M., Giros, B., Gainetdinov, R.R., Wetsel, W.C., Missale, C., Caron, M.G. Neuron (1997) [Pubmed]
  14. Divergent roles in Arabidopsis thaliana development and defense of two homologous genes, aberrant growth and death2 and AGD2-LIKE DEFENSE RESPONSE PROTEIN1, encoding novel aminotransferases. Song, J.T., Lu, H., Greenberg, J.T. Plant Cell (2004) [Pubmed]
  15. A murine model for human sepiapterin-reductase deficiency. Yang, S., Lee, Y.J., Kim, J.M., Park, S., Peris, J., Laipis, P., Park, Y.S., Chung, J.H., Oh, S.P. Am. J. Hum. Genet. (2006) [Pubmed]
  16. Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases. Groebe, H., Krins, M., Schmidberger, H., von Figura, K., Harzer, K., Kresse, H., Paschke, E., Sewell, A., Ullrich, K. Am. J. Hum. Genet. (1980) [Pubmed]
  17. The solution structure of the Oct-1 POU-specific domain reveals a striking similarity to the bacteriophage lambda repressor DNA-binding domain. Assa-Munt, N., Mortishire-Smith, R.J., Aurora, R., Herr, W., Wright, P.E. Cell (1993) [Pubmed]
  18. Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. Chen, L., Adar, R., Yang, X., Monsonego, E.O., Li, C., Hauschka, P.V., Yayon, A., Deng, C.X. J. Clin. Invest. (1999) [Pubmed]
  19. Dominant dwarfism in transgenic rats by targeting human growth hormone (GH) expression to hypothalamic GH-releasing factor neurons. Flavell, D.M., Wells, T., Wells, S.E., Carmignac, D.F., Thomas, G.B., Robinson, I.C. EMBO J. (1996) [Pubmed]
  20. Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome. Duquesnoy, P., Sobrier, M.L., Amselem, S., Goossens, M. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  21. The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation. Monsonego-Ornan, E., Adar, R., Feferman, T., Segev, O., Yayon, A. Mol. Cell. Biol. (2000) [Pubmed]
  22. Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Yasoda, A., Komatsu, Y., Chusho, H., Miyazawa, T., Ozasa, A., Miura, M., Kurihara, T., Rogi, T., Tanaka, S., Suda, M., Tamura, N., Ogawa, Y., Nakao, K. Nat. Med. (2004) [Pubmed]
  23. Intestinal secretory defects and dwarfism in mice lacking cGMP-dependent protein kinase II. Pfeifer, A., Aszódi, A., Seidler, U., Ruth, P., Hofmann, F., Fässler, R. Science (1996) [Pubmed]
  24. The steroid receptor coactivator SRC-3 (p/CIP/RAC3/AIB1/ACTR/TRAM-1) is required for normal growth, puberty, female reproductive function, and mammary gland development. Xu, J., Liao, L., Ning, G., Yoshida-Komiya, H., Deng, C., O'Malley, B.W. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  25. periostin null mice exhibit dwarfism, incisor enamel defects, and an early-onset periodontal disease-like phenotype. Rios, H., Koushik, S.V., Wang, H., Wang, J., Zhou, H.M., Lindsley, A., Rogers, R., Chen, Z., Maeda, M., Kruzynska-Frejtag, A., Feng, J.Q., Conway, S.J. Mol. Cell. Biol. (2005) [Pubmed]
  26. Defective bone mineralization and osteopenia in young adult FGFR3-/- mice. Valverde-Franco, G., Liu, H., Davidson, D., Chai, S., Valderrama-Carvajal, H., Goltzman, D., Ornitz, D.M., Henderson, J.E. Hum. Mol. Genet. (2004) [Pubmed]
  27. Smad6/Smurf1 overexpression in cartilage delays chondrocyte hypertrophy and causes dwarfism with osteopenia. Horiki, M., Imamura, T., Okamoto, M., Hayashi, M., Murai, J., Myoui, A., Ochi, T., Miyazono, K., Yoshikawa, H., Tsumaki, N. J. Cell Biol. (2004) [Pubmed]
  28. The DWF4 gene of Arabidopsis encodes a cytochrome P450 that mediates multiple 22alpha-hydroxylation steps in brassinosteroid biosynthesis. Choe, S., Dilkes, B.P., Fujioka, S., Takatsuto, S., Sakurai, A., Feldmann, K.A. Plant Cell (1998) [Pubmed]
  29. Dwarfism and early death in mice lacking C-type natriuretic peptide. Chusho, H., Tamura, N., Ogawa, Y., Yasoda, A., Suda, M., Miyazawa, T., Nakamura, K., Nakao, K., Kurihara, T., Komatsu, Y., Itoh, H., Tanaka, K., Saito, Y., Katsuki, M., Nakao, K. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  30. Disruption of PC1/3 expression in mice causes dwarfism and multiple neuroendocrine peptide processing defects. Zhu, X., Zhou, A., Dey, A., Norrbom, C., Carroll, R., Zhang, C., Laurent, V., Lindberg, I., Ugleholdt, R., Holst, J.J., Steiner, D.F. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  31. Hip1-related mutant mice grow and develop normally but have accelerated spinal abnormalities and dwarfism in the absence of HIP1. Hyun, T.S., Li, L., Oravecz-Wilson, K.I., Bradley, S.V., Provot, M.M., Munaco, A.J., Mizukami, I.F., Sun, H., Ross, T.S. Mol. Cell. Biol. (2004) [Pubmed]
  32. Synergistic interaction of three ERECTA-family receptor-like kinases controls Arabidopsis organ growth and flower development by promoting cell proliferation. Shpak, E.D., Berthiaume, C.T., Hill, E.J., Torii, K.U. Development (2004) [Pubmed]
  33. Receptor-active growth hormone in Laron dwarfism. Jacobs, L.S., Sneid, D.S., Garland, J.T., Laron, Z., Daughaday, W.H. J. Clin. Endocrinol. Metab. (1976) [Pubmed]
  34. Effects of growth hormone secretagogues in the transgenic growth-retarded (Tgr) rat. Wells, T., Flavell, D.M., Wells, S.E., Carmignac, D.F., Robinson, I.C. Endocrinology (1997) [Pubmed]
  35. Ketamine induction for cesarean section in a patient with acute intermittent porphyria and achondroplastic dwarfism. Bancroft, G.H., Lauria, J.I. Anesthesiology (1983) [Pubmed]
  36. Microcephalic osteodysplastic dwarfism (type II-like) in siblings. Verloes, A., Lambrechts, L., Senterre, J., Lambotte, C. Clin. Genet. (1987) [Pubmed]
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