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Gene Review

HYD2  -  hypodontia 2 (autosomal recessive)

Homo sapiens

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Disease relevance of HYD2


Psychiatry related information on HYD2


High impact information on HYD2


Chemical compound and disease context of HYD2


Biological context of HYD2


Anatomical context of HYD2


Associations of HYD2 with chemical compounds

  • Alleles G and T were found at a significant higher frequency in individuals with hypodontia, whereas alleles A and C were more frequent in Control subjects, p=0.0094 and 0.0086, respectively [23].
  • The number of third molars present, tooth size, arch size, and upper lateral incisor malformation were under strong genetic influence; hypodontia indicated a median heritability; a weak heritability was seen in tooth eruption and caries, and a weaker heritability was found in occlusal traits [24].
  • Multipurpose titanium miniplates were placed on the lateral nasal wall of the maxilla as anchorage for face mask protraction in an 11-year-old girl presenting with severe maxillary hypoplasia and hypodontia [25].

Other interactions of HYD2


Analytical, diagnostic and therapeutic context of HYD2


  1. Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. van Bokhoven, H., Jung, M., Smits, A.P., van Beersum, S., Rüschendorf, F., van Steensel, M., Veenstra, M., Tuerlings, J.H., Mariman, E.C., Brunner, H.G., Wienker, T.F., Reis, A., Ropers, H.H., Hamel, B.C. Am. J. Hum. Genet. (1999) [Pubmed]
  2. Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq. Murray, J.C., Nishimura, D.Y., Buetow, K.H., Ardinger, H.H., Spence, M.A., Sparkes, R.S., Falk, R.E., Falk, P.M., Gardner, R.J., Harkness, E.M. Am. J. Hum. Genet. (1990) [Pubmed]
  3. A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. Ho, L., Williams, M.S., Spritz, R.A. Am. J. Hum. Genet. (1998) [Pubmed]
  4. X-linked anhidrotic ectodermal dysplasia with some unusual features. Settineri, W.M., Salzano, F.M., Fretas, M.J. J. Med. Genet. (1976) [Pubmed]
  5. Cephalometric analysis of Rapp-Hodgkin syndrome. Hart, T.C., Kyrkanides, S. J. Med. Genet. (1994) [Pubmed]
  6. Van der Woude syndrome with mental retardation: case report. Ugwu, B.T., Momoh, J.T. East African medical journal. (2001) [Pubmed]
  7. Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1. Sertié, A.L., Sousa, A.V., Steman, S., Pavanello, R.C., Passos-Bueno, M.R. Am. J. Hum. Genet. (1999) [Pubmed]
  8. A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1. Ahmad, W., Brancolini, V., ul Faiyaz, M.F., Lam, H., ul Haque, S., Haider, M., Maimon, A., Aita, V.M., Owen, J., Brown, D., Zegarelli, D.J., Ahmad, M., Ott, J., Christiano, A.M. Am. J. Hum. Genet. (1998) [Pubmed]
  9. Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia. Kist, R., Watson, M., Wang, X., Cairns, P., Miles, C., Reid, D.J., Peters, H. Hum. Mol. Genet. (2005) [Pubmed]
  10. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. McGrath, J.A., Duijf, P.H., Doetsch, V., Irvine, A.D., de Waal , R., Vanmolkot, K.R., Wessagowit, V., Kelly, A., Atherton, D.J., Griffiths, W.A., Orlow, S.J., van Haeringen, A., Ausems, M.G., Yang, A., McKeon, F., Bamshad, M.A., Brunner, H.G., Hamel, B.C., van Bokhoven, H. Hum. Mol. Genet. (2001) [Pubmed]
  11. Unknown syndrome: peculiar face, severe hypodontia of permanent teeth, and precocious choroid calcifications. Pallotta, R., Fusilli, P. J. Med. Genet. (1998) [Pubmed]
  12. The role of serotonin and neurotransmitters during craniofacial development. Moiseiwitsch, J.R. Crit. Rev. Oral Biol. Med. (2000) [Pubmed]
  13. Van der Woude syndrome: a report of two cases. King, N.M., Cheong, C.H., Sanares, A.M. The Journal of clinical pediatric dentistry. (2004) [Pubmed]
  14. C2 Management of a patient exhibiting concomitant supernumerary teeth and hypodontia. Patchett, C.L., Sargison, A.E., Cole, B.O. International journal of paediatric dentistry / the British Paedodontic Society [and] the International Association of Dentistry for Children. (2006) [Pubmed]
  15. A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Schutte, B.C., Bjork, B.C., Coppage, K.B., Malik, M.I., Gregory, S.G., Scott, D.J., Brentzell, L.M., Watanabe, Y., Dixon, M.J., Murray, J.C. Genome Res. (2000) [Pubmed]
  16. On the genetics of hypodontia and microdontia: synergism or allelism of major genes in a family with six affected members. Lyngstadaas, S.P., Nordbo, H., Gedde-Dahl, T., Thrane, P.S. J. Med. Genet. (1996) [Pubmed]
  17. Characteristics of incisor-premolar hypodontia in families. Arte, S., Nieminen, P., Apajalahti, S., Haavikko, K., Thesleff, I., Pirinen, S. J. Dent. Res. (2001) [Pubmed]
  18. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Das, P., Stockton, D.W., Bauer, C., Shaffer, L.G., D'Souza, R.N., Wright, T., Patel, P.I. Hum. Genet. (2002) [Pubmed]
  19. Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes. Nieminen, P., Arte, S., Pirinen, S., Peltonen, L., Thesleff, I. Hum. Genet. (1995) [Pubmed]
  20. A dental approach to carrier screening in X linked hypohidrotic ectodermal dysplasia. Spfaer, J.A. J. Med. Genet. (1981) [Pubmed]
  21. Ectodermal dysplasia in females and inversion of chromosome 9. Fuenmayor, H.M., Roldan-París, L., Bermúdez, H. J. Med. Genet. (1981) [Pubmed]
  22. Dental abnormalities in children treated for acute lymphoblastic leukemia. Kaste, S.C., Hopkins, K.P., Jones, D., Crom, D., Greenwald, C.A., Santana, V.M. Leukemia (1997) [Pubmed]
  23. Association between PAX-9 promoter polymorphisms and hypodontia in humans. Peres, R.C., Scarel-Caminaga, R.M., do Espírito Santo, A.R., Line, S.R. Arch. Oral Biol. (2005) [Pubmed]
  24. Genetic analysis of dental traits in 82 pairs of female-female twins. Liu, H., Deng, H., Cao, C.F., Ono, H. The Chinese journal of dental research : the official journal of the Scientific Section of the Chinese Stomatological Association (CSA). (1998) [Pubmed]
  25. Orthopedic protraction with skeletal anchorage in a patient with maxillary hypoplasia and hypodontia. Kircelli, B.H., Pektaş, Z.O., Uçkan, S. The Angle orthodontist. (2006) [Pubmed]
  26. Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region. Slayton, R.L., Williams, L., Murray, J.C., Wheeler, J.J., Lidral, A.C., Nishimura, C.J. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. (2003) [Pubmed]
  27. Developmental expression analysis of the mouse and chick orthologues of IRF6: The gene mutated in Van der Woude syndrome. Knight, A.S., Schutte, B.C., Jiang, R., Dixon, M.J. Dev. Dyn. (2006) [Pubmed]
  28. Gene defect in hypodontia: exclusion of EGF, EGFR, and FGF-3 as candidate genes. Arte, S., Nieminen, P., Pirinen, S., Thesleff, I., Peltonen, L. J. Dent. Res. (1996) [Pubmed]
  29. Mulvihill-Smith syndrome: case report and review. Bartsch, O., Tympner, K.D., Schwinger, E., Gorlin, R.J. J. Med. Genet. (1994) [Pubmed]
  30. Facial morphometrics in the identification of gene carriers of X-linked hypohidrotic ectodermal dysplasia. Saksena, S.S., Bixler, D. Am. J. Med. Genet. (1990) [Pubmed]
  31. Analysis of the vertical facial form in patients with severe hypodontia. Bondarets, N., McDonald, F. Am. J. Phys. Anthropol. (2000) [Pubmed]
  32. New cases of dermoodontodysplasia? Pinheiro, M., Gomes-de-Sá-Filho, F.P., Freire-Maia, N. Am. J. Med. Genet. (1990) [Pubmed]
  33. Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate. Martínez, B., Monasterio, L., Pinheiro, M., Freire-Maia, N. Am. J. Med. Genet. (1987) [Pubmed]
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