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Disease relevance of Hypotrichosis


High impact information on Hypotrichosis

  • The essential role of desmoglein 4 in skin was established by identifying mutations in families with inherited hypotrichosis, as well as in the lanceolate hair mouse [2].
  • We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520) [6].
  • Homozygosity mapping led to the identification of novel mutations in the RMRP gene, which was previously known to cause two milder types of short stature with susceptibility to cancer, cartilage hair hypoplasia, and metaphyseal dysplasia without hypotrichosis [7].
  • A brother and sister, the offspring of first cousins, are described with retinitis pigmentosa, trichodysplasia (hypotrichosis and structural changes), dental anomalies, and onychodysplasia [8].
  • Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy [9].

Chemical compound and disease context of Hypotrichosis


Biological context of Hypotrichosis


Anatomical context of Hypotrichosis


Gene context of Hypotrichosis


Analytical, diagnostic and therapeutic context of Hypotrichosis


  1. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Sprecher, E., Bergman, R., Richard, G., Lurie, R., Shalev, S., Petronius, D., Shalata, A., Anbinder, Y., Leibu, R., Perlman, I., Cohen, N., Szargel, R. Nat. Genet. (2001) [Pubmed]
  2. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Kljuic, A., Bazzi, H., Sundberg, J.P., Martinez-Mir, A., O'Shaughnessy, R., Mahoney, M.G., Levy, M., Montagutelli, X., Ahmad, W., Aita, V.M., Gordon, D., Uitto, J., Whiting, D., Ott, J., Fischer, S., Gilliam, T.C., Jahoda, C.A., Morris, R.J., Panteleyev, A.A., Nguyen, V.T., Christiano, A.M. Cell (2003) [Pubmed]
  3. Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle. Drögemüller, C., Distl, O., Leeb, T. Genome Res. (2001) [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. A new syndrome in the group of euhidrotic ectodermal dysplasia. Pilodental dysplasia with refractive errors. Kopyść, Z., Barczyk, K., Król, E. Hum. Genet. (1985) [Pubmed]
  6. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Levy-Nissenbaum, E., Betz, R.C., Frydman, M., Simon, M., Lahat, H., Bakhan, T., Goldman, B., Bygum, A., Pierick, M., Hillmer, A.M., Jonca, N., Toribio, J., Kruse, R., Dewald, G., Cichon, S., Kubisch, C., Guerrin, M., Serre, G., Nöthen, M.M., Pras, E. Nat. Genet. (2003) [Pubmed]
  7. Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Thiel, C.T., Horn, D., Zabel, B., Ekici, A.B., Salinas, K., Gebhart, E., Rüschendorf, F., Sticht, H., Spranger, J., Müller, D., Zweier, C., Schmitt, M.E., Reis, A., Rauch, A. Am. J. Hum. Genet. (2005) [Pubmed]
  8. Oculotrichodysplasia (OTD): a new probably autosomal recessive condition. Cecatto-De-Lima, L., Pinheiro, M., Freire-Maia, N. J. Med. Genet. (1988) [Pubmed]
  9. Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. Indelman, M., Hamel, C.P., Bergman, R., Nischal, K.K., Thompson, D., Surget, M.O., Ramon, M., Ganthos, H., Miller, B., Richard, G., Lurie, R., Leibu, R., Russell-Eggitt, I., Sprecher, E. J. Invest. Dermatol. (2003) [Pubmed]
  10. Bilateral poliosis and granulomatous anterior uveitis associated with latanoprost use and apparent hypotrichosis on its withdrawal. Waheed, K., Laganowski, H. Eye (London, England) (2001) [Pubmed]
  11. Role of arginine-converting-enzyme in hypotrichosis of Hereford cattle. Rose, R., Smith, J.E., Leipold, H.W. Zentralblatt für Veterinärmedizin. Reihe A. (1983) [Pubmed]
  12. A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. Indelman, M., Bergman, R., Lurie, R., Richard, G., Miller, B., Petronius, D., Ciubutaro, D., Leibu, R., Sprecher, E. J. Invest. Dermatol. (2002) [Pubmed]
  13. The Charles River "hairless" rat mutation maps to chromosome 1: allelic with fuzzy and a likely orthologue of mouse frizzy. Ahearn, K., Akkouris, G., Berry, P.R., Chrissluis, R.R., Crooks, I.M., Dull, A.K., Grable, S., Jeruzal, J., Lanza, J., Lavoie, C., Maloney, R.A., Pitruzzello, M., Sharma, R., Stoklasek, T.A., Tweeddale, J., King, T.R. J. Hered. (2002) [Pubmed]
  14. Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report). Hayakawa, M., Yanashima, K., Kato, K., Nakajima, A., Yamauchi, H. Ophthalmic paediatrics and genetics. (1989) [Pubmed]
  15. Ectodysplasin-1 deficiency in a German Holstein bull associated with loss of respiratory mucous glands and chronic rhinotracheitis. Seeliger, F., Drögemüller, C., Tegtmeier, P., Baumgärtner, W., Distl, O., Leeb, T. J. Comp. Pathol. (2005) [Pubmed]
  16. NEMO mutations in 2 unrelated boys with severe infections and conical teeth. Ku, C.L., Dupuis-Girod, S., Dittrich, A.M., Bustamante, J., Santos, O.F., Schulze, I., Bertrand, Y., Couly, G., Bodemer, C., Bossuyt, X., Picard, C., Casanova, J.L. Pediatrics (2005) [Pubmed]
  17. A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. Rafiq, M.A., Ansar, M., Mahmood, S., Haque, S., Faiyaz-ul-Haque, M., Leal, S.M., Ahmad, W. J. Invest. Dermatol. (2004) [Pubmed]
  18. Further delineation of the hypotrichosis-deafness syndrome. Van Steensel, M.A., Van Geel, M., Steijlen, P.M. European journal of dermatology : EJD. (2005) [Pubmed]
  19. Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Bazzi, H., Getz, A., Mahoney, M.G., Ishida-Yamamoto, A., Langbein, L., Wahl, J.K., Christiano, A.M. Differentiation (2006) [Pubmed]
  20. X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families. Visinoni, A.F., de Souza, R.L., Freire-Maia, N., Gollop, T.R., Chautard-Freire-Maia, E.A. Am. J. Med. Genet. A (2003) [Pubmed]
  21. Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases. Kargül, B., Alcan, T., Kabalay, U., Atasu, M. The Journal of clinical pediatric dentistry. (2001) [Pubmed]
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