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MeSH Review


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Disease relevance of Abnormalities

  • Cleft lip, with or without cleft palate (CL/P), is one of the most common birth defects, occurring in 0.4 to 2.0 per 1,000 infants born alive [1].
  • Partial absence of the sacrum is a rare congenital defect which also occurs as an autosomal dominant trait; association with anterior meningocoele, presacral teratoma and anorectal abnormalities constitutes the Currarino triad (MIM 176450) [2].
  • Haploinsufficiency of Tbx1 is likely a major determinant of cardiac and craniofacial birth defects associated with DiGeorge syndrome [3].
  • Fanconi anemia (FA) consists of a group of at least five autosomal recessive disorders that share both clinical (e.g., birth defects and hematopoietic failure) and cellular (e.g., sensitivity to cross-linking agents and predisposition to apoptosis) features with each other [4].
  • The involvement of vitamin K metabolism and function in two well characterized birth defects, warfarin embryopathy and vitamin K epoxide reductase deficiency, suggests that developmental signals from K-dependent pathways may be required for normal embryogenesis [5].

Psychiatry related information on Abnormalities


High impact information on Abnormalities


Chemical compound and disease context of Abnormalities

  • Vitamin A and birth defects. Continuing caution is needed [16].
  • The sedative drug thalidomide ([+]-alpha-phthalimidoglutarimide), once abandoned for causing birth defects in humans, has found new therapeutic license in leprosy and other diseases, with renewed teratological consequences [17].
  • Veratrum alkaloids and distal inhibitors of cholesterol biosynthesis have been studied for more than 30 years as potent teratogens capable of inducing cyclopia and other birth defects [18].
  • The review then summarizes our current understanding of the molecular mechanisms involved in selected birth defects following exposure to pharmacological compounds, including thalidomide, retinoids, and valproic acid [19].
  • Birth defects related to bendectin use in pregnancy. I. Oral clefts and cardiac defects [20].

Biological context of Abnormalities


Anatomical context of Abnormalities


Gene context of Abnormalities

  • Fanconi anaemia (FA) is an autosomal recessive inherited disorder associated with a progressive aplastic anaemia, diverse congenital abnormalities and cancer [31].
  • Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects [32].
  • Mutations in mouse and human patched1 (ptc1) genes are associated with birth defects and cancer [33].
  • In conclusion, this study demonstrates that gene-environment interactions cooperate to induce congenital defects through p53 activation [34].
  • Mutations in mouse and human patched (PTCH) genes are associated with birth defects and cancer [35].

Analytical, diagnostic and therapeutic context of Abnormalities


  1. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Suzuki, K., Hu, D., Bustos, T., Zlotogora, J., Richieri-Costa, A., Helms, J.A., Spritz, R.A. Nat. Genet. (2000) [Pubmed]
  2. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Ross, A.J., Ruiz-Perez, V., Wang, Y., Hagan, D.M., Scherer, S., Lynch, S.A., Lindsay, S., Custard, E., Belloni, E., Wilson, D.I., Wadey, R., Goodman, F., Orstavik, K.H., Monclair, T., Robson, S., Reardon, W., Burn, J., Scambler, P., Strachan, T. Nat. Genet. (1998) [Pubmed]
  3. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Yamagishi, H., Maeda, J., Hu, T., McAnally, J., Conway, S.J., Kume, T., Meyers, E.N., Yamagishi, C., Srivastava, D. Genes Dev. (2003) [Pubmed]
  4. MxA overexpression reveals a common genetic link in four Fanconi anemia complementation groups. Li, Y., Youssoufian, H. J. Clin. Invest. (1997) [Pubmed]
  5. A novel role for vitamin K1 in a tyrosine phosphorylation cascade during chick embryogenesis. Saxena, S.P., Fan, T., Li, M., Israels, E.D., Israels, L.G. J. Clin. Invest. (1997) [Pubmed]
  6. Histone deacetylase is a direct target of valproic acid, a potent anticonvulsant, mood stabilizer, and teratogen. Phiel, C.J., Zhang, F., Huang, E.Y., Guenther, M.G., Lazar, M.A., Klein, P.S. J. Biol. Chem. (2001) [Pubmed]
  7. Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype. Turner, C., Dennis, N.R., Skuse, D.H., Jacobs, P.A. Hum. Genet. (2000) [Pubmed]
  8. Paternal serum dioxin and reproductive outcomes among veterans of Operation Ranch Hand. Wolfe, W.H., Michalek, J.E., Miner, J.C., Rahe, A.J., Moore, C.A., Needham, L.L., Patterson, D.G. Epidemiology (Cambridge, Mass.) (1995) [Pubmed]
  9. Effect of alcohol on platelet-activating factor acetylhydrolase activity in pregnant and nonpregnant mice. Saleh, A.A., Church, M.W., Johnston, J.M. Alcohol. Clin. Exp. Res. (1994) [Pubmed]
  10. A population-based case-control study of the safety of oral anti-tuberculosis drug treatment during pregnancy. Czeizel, A.E., Rockenbauer, M., Olsen, J., Sørensen, H.T. The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease. (2001) [Pubmed]
  11. Folic acid antagonists during pregnancy and risk of birth defects. Brentlinger, P.E. N. Engl. J. Med. (2001) [Pubmed]
  12. Retinoic acid rescues inner ear defects in Hoxa1 deficient mice. Pasqualetti, M., Neun, R., Davenne, M., Rijli, F.M. Nat. Genet. (2001) [Pubmed]
  13. Absence of birth defects in offspring of women treated with dactinomycin. Byrne, J., Nicholson, H.S., Mulvihill, J.J. N. Engl. J. Med. (1992) [Pubmed]
  14. Agent Orange and birth defects (continued). Constable, J.D., Hatch, M.C. N. Engl. J. Med. (1984) [Pubmed]
  15. VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Stalmans, I., Lambrechts, D., De Smet, F., Jansen, S., Wang, J., Maity, S., Kneer, P., von der Ohe, M., Swillen, A., Maes, C., Gewillig, M., Molin, D.G., Hellings, P., Boetel, T., Haardt, M., Compernolle, V., Dewerchin, M., Plaisance, S., Vlietinck, R., Emanuel, B., Gittenberger-de Groot, A.C., Scambler, P., Morrow, B., Driscol, D.A., Moons, L., Esguerra, C.V., Carmeliet, G., Behn-Krappa, A., Devriendt, K., Collen, D., Conway, S.J., Carmeliet, P. Nat. Med. (2003) [Pubmed]
  16. Vitamin A and birth defects. Continuing caution is needed. Oakley, G.P., Erickson, J.D. N. Engl. J. Med. (1995) [Pubmed]
  17. Free radical-mediated oxidative DNA damage in the mechanism of thalidomide teratogenicity. Parman, T., Wiley, M.J., Wells, P.G. Nat. Med. (1999) [Pubmed]
  18. Teratogen-mediated inhibition of target tissue response to Shh signaling. Cooper, M.K., Porter, J.A., Young, K.E., Beachy, P.A. Science (1998) [Pubmed]
  19. Molecular basis of environmentally induced birth defects. Finnell, R.H., Waes, J.G., Eudy, J.D., Rosenquist, T.H. Annu. Rev. Pharmacol. Toxicol. (2002) [Pubmed]
  20. Birth defects related to bendectin use in pregnancy. I. Oral clefts and cardiac defects. Mitchell, A.A., Rosenberg, L., Shapiro, S., Slone, D. JAMA (1981) [Pubmed]
  21. Formin-2, polyploidy, hypofertility and positioning of the meiotic spindle in mouse oocytes. Leader, B., Lim, H., Carabatsos, M.J., Harrington, A., Ecsedy, J., Pellman, D., Maas, R., Leder, P. Nat. Cell Biol. (2002) [Pubmed]
  22. Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy. Gonzalez, C.H., Marques-Dias, M.J., Kim, C.A., Sugayama, S.M., Da Paz, J.A., Huson, S.M., Holmes, L.B. Lancet (1998) [Pubmed]
  23. First trimester topical tretinoin and congenital disorders. Jick, S.S., Terris, B.Z., Jick, H. Lancet (1993) [Pubmed]
  24. Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region. Puech, A., Saint-Jore, B., Merscher, S., Russell, R.G., Cherif, D., Sirotkin, H., Xu, H., Factor, S., Kucherlapati, R., Skoultchi, A.I. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  25. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. DeBaun, M.R., Niemitz, E.L., McNeil, D.E., Brandenburg, S.A., Lee, M.P., Feinberg, A.P. Am. J. Hum. Genet. (2002) [Pubmed]
  26. Teratogenicity of high vitamin A intake. Rothman, K.J., Moore, L.L., Singer, M.R., Nguyen, U.S., Mannino, S., Milunsky, A. N. Engl. J. Med. (1995) [Pubmed]
  27. The CC chemokine thymus-derived chemotactic agent 4 (TCA-4, secondary lymphoid tissue chemokine, 6Ckine, exodus-2) triggers lymphocyte function-associated antigen 1-mediated arrest of rolling T lymphocytes in peripheral lymph node high endothelial venules. Stein, J.V., Rot, A., Luo, Y., Narasimhaswamy, M., Nakano, H., Gunn, M.D., Matsuzawa, A., Quackenbush, E.J., Dorf, M.E., von Andrian, U.H. J. Exp. Med. (2000) [Pubmed]
  28. Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. Thakker, R.V., Davies, K.E., Whyte, M.P., Wooding, C., O'Riordan, J.L. J. Clin. Invest. (1990) [Pubmed]
  29. Fibroblast growth factor receptors: lessons from the genes. Burke, D., Wilkes, D., Blundell, T.L., Malcolm, S. Trends Biochem. Sci. (1998) [Pubmed]
  30. A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome. Murakami, M., Nakagawa, M., Olson, E.N., Nakagawa, O. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  31. Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway. Medhurst, A.L., Huber, P.A., Waisfisz, Q., de Winter , J.P., Mathew, C.G. Hum. Mol. Genet. (2001) [Pubmed]
  32. Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Kiefer, S.M., Ohlemiller, K.K., Yang, J., McDill, B.W., Kohlhase, J., Rauchman, M. Hum. Mol. Genet. (2003) [Pubmed]
  33. Several PATCHED1 missense mutations display activity in patched1-deficient fibroblasts. Bailey, E.C., Milenkovic, L., Scott, M.P., Collawn, J.F., Johnson, R.L. J. Biol. Chem. (2002) [Pubmed]
  34. A novel pathological role of p53 in kidney development revealed by gene-environment interactions. Fan, H., Harrell, J.R., Dipp, S., Saifudeen, Z., El-Dahr, S.S. Am. J. Physiol. Renal Physiol. (2005) [Pubmed]
  35. Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons. Nagao, K., Toyoda, M., Takeuchi-Inoue, K., Fujii, K., Yamada, M., Miyashita, T. Genomics (2005) [Pubmed]
  36. Serum 2,3,7,8-tetrachlorodibenzo-p-dioxin levels of New Zealand pesticide applicators and their implication for cancer hypotheses. Smith, A.H., Patterson, D.G., Warner, M.L., MacKenzie, R., Needham, L.L. J. Natl. Cancer Inst. (1992) [Pubmed]
  37. Case-crossover and case-time-control designs in birth defects epidemiology. Hernández-Díaz, S., Hernán, M.A., Meyer, K., Werler, M.M., Mitchell, A.A. Am. J. Epidemiol. (2003) [Pubmed]
  38. Risk of congenital abnormalities in children born to women with ulcerative colitis: a population-based, case-control study. Nørgård, B., Puho, E., Pedersen, L., Czeizel, A.E., Sørensen, H.T. Am. J. Gastroenterol. (2003) [Pubmed]
  39. Safety of metronidazole during pregnancy: a cohort study of risk of congenital abnormalities, preterm delivery and low birth weight in 124 women. Sørensen, H.T., Larsen, H., Jensen, E.S., Thulstrup, A.M., Schønheyder, H.C., Nielsen, G.L., Czeizel, A. J. Antimicrob. Chemother. (1999) [Pubmed]
  40. Treating allergic rhinitis in pregnancy. Safety considerations. Mazzotta, P., Loebstein, R., Koren, G. Drug safety : an international journal of medical toxicology and drug experience. (1999) [Pubmed]
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