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Gene Review

ASMD  -  anterior segment mesenchymal dysgenesis

Homo sapiens

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Disease relevance of ASMD


High impact information on ASMD


Biological context of ASMD

  • Although the same genotype was described in a family with ASMD and cataracts, the common phenotype of this mutation is probably posterior polar cataract; a modifier gene is presumed to cause anterior segment abnormalities in the previously described patients [8].

Other interactions of ASMD

  • CONCLUSION: Mutations in the PITX3 gene in humans result in posterior polar cataract and variable ASMD [9].


  1. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Semina, E.V., Ferrell, R.E., Mintz-Hittner, H.A., Bitoun, P., Alward, W.L., Reiter, R.S., Funkhauser, C., Daack-Hirsch, S., Murray, J.C. Nat. Genet. (1998) [Pubmed]
  2. Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. Heathcote, J.G., Sholdice, J., Walton, J.C., Willis, N.R., Sergovich, F.R. Can. J. Ophthalmol. (1991) [Pubmed]
  3. Unilateral congenital corneal keloid with anterior segment mesenchymal dysgenesis and subluxated lens: case report and review of literature. Vanathi, M., Sen, S., Panda, A., Dada, T., Behera, G., Khokhar, S. Cornea (2007) [Pubmed]
  4. Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. Rao, S.K., Fan, D.S., Pang, C.P., Li, W.W., Ng, J.S., Good, W.V., Lam, D.S. Cornea (2002) [Pubmed]
  5. Axenfeld anomaly in association with hypomelanosis of Ito. Flaherty, M.P., Padilla, C.D., Sillence, D.O. Ophthalmic paediatrics and genetics. (1991) [Pubmed]
  6. Anterior segment mesenchymal dysgenesis: probable linkage to the MNS blood group on chromosome 4. Ferrell, R.E., Hittner, H.M., Kretzer, F.L., Antoszyk, J.H. Am. J. Hum. Genet. (1982) [Pubmed]
  7. Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. Hittner, H.M., Kretzer, F.L., Antoszyk, J.H., Ferrell, R.E., Mehta, R.S. Am. J. Ophthalmol. (1982) [Pubmed]
  8. Posterior polar cataract: genetic analysis of a large family. Finzi, S., Li, Y., Mitchell, T.N., Farr, A., Maumenee, I.H., Sallum, J.M., Sundin, O. Ophthalmic Genet. (2005) [Pubmed]
  9. Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene. Addison, P.K., Berry, V., Ionides, A.C., Francis, P.J., Bhattacharya, S.S., Moore, A.T. The British journal of ophthalmology. (2005) [Pubmed]
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