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MeSH Review

Ehlers-Danlos Syndrome

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Disease relevance of Ehlers-Danlos Syndrome


High impact information on Ehlers-Danlos Syndrome


Chemical compound and disease context of Ehlers-Danlos Syndrome


Biological context of Ehlers-Danlos Syndrome


Anatomical context of Ehlers-Danlos Syndrome


Gene context of Ehlers-Danlos Syndrome

  • Mutations in the COL3A1 gene that encodes the chains of type III procollagen result in the vascular form of Ehlers-Danlos syndrome (EDS), EDS type IV, if they alter the sequence in the triple-helical domain [21].
  • Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I [22].
  • This implies that approximately 1 in every 10 steroid 21-hydroxylase deficiency patients is a carrier of tenascin-X deficiency, which is associated with a recessive form of the Ehlers-Danlos syndrome [23].
  • Mutations in ADAMTS2, a procollagen amino-propeptidase, cause severe skin fragility, designated as dermatosparaxis in animals, and a subtype of the Ehlers-Danlos syndrome (dermatosparactic type or VIIC) in humans [24].
  • A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II [25].

Analytical, diagnostic and therapeutic context of Ehlers-Danlos Syndrome


  1. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. Schalkwijk, J., Zweers, M.C., Steijlen, P.M., Dean, W.B., Taylor, G., van Vlijmen, I.M., van Haren, B., Miller, W.L., Bristow, J. N. Engl. J. Med. (2001) [Pubmed]
  2. Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein. Kuivaniemi, H., Peltonen, L., Kivirikko, K.I. Am. J. Hum. Genet. (1985) [Pubmed]
  3. Of mice and men, metals and mutations. Danks, D.M. J. Med. Genet. (1986) [Pubmed]
  4. New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Paluru, P., Ronan, S.M., Heon, E., Devoto, M., Wildenberg, S.C., Scavello, G., Holleschau, A., Mäkitie, O., Cole, W.G., King, R.A., Young, T.L. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  5. Visceral aneurysms in Ehlers-Danlos syndrome: case report and review of the literature. Parfitt, J., Chalmers, R.T., Wolfe, J.H. J. Vasc. Surg. (2000) [Pubmed]
  6. Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. Mao, J.R., Taylor, G., Dean, W.B., Wagner, D.R., Afzal, V., Lotz, J.C., Rubin, E.M., Bristow, J. Nat. Genet. (2002) [Pubmed]
  7. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. Pepin, M., Schwarze, U., Superti-Furga, A., Byers, P.H. N. Engl. J. Med. (2000) [Pubmed]
  8. Abnormal properties of collagen lysyl hydroxylase from skin fibroblasts of siblings with hydroxylysine-deficient collagen. Quinn, R.S., Krane, S.M. J. Clin. Invest. (1976) [Pubmed]
  9. Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. Kontusaari, S., Tromp, G., Kuivaniemi, H., Stolle, C., Pope, F.M., Prockop, D.J. Am. J. Hum. Genet. (1992) [Pubmed]
  10. Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. Steinmann, B., Eyre, D.R., Shao, P. Am. J. Hum. Genet. (1995) [Pubmed]
  11. Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. Lee, B., D'Alessio, M., Vissing, H., Ramirez, F., Steinmann, B., Superti-Furga, A. Am. J. Hum. Genet. (1991) [Pubmed]
  12. A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. Ha, V.T., Marshall, M.K., Elsas, L.J., Pinnell, S.R., Yeowell, H.N. J. Clin. Invest. (1994) [Pubmed]
  13. A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. Vasan, N.S., Kuivaniemi, H., Vogel, B.E., Minor, R.R., Wootton, J.A., Tromp, G., Weksberg, R., Prockop, D.J. Am. J. Hum. Genet. (1991) [Pubmed]
  14. A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. Burrows, N.P., Nicholls, A.C., Richards, A.J., Luccarini, C., Harrison, J.B., Yates, J.R., Pope, F.M. Am. J. Hum. Genet. (1998) [Pubmed]
  15. Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome. Pousi, B., Hautala, T., Heikkinen, J., Pajunen, L., Kivirikko, K.I., Myllylä, R. Am. J. Hum. Genet. (1994) [Pubmed]
  16. Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. Chan, D., Cole, W.G. J. Biol. Chem. (1991) [Pubmed]
  17. Flexor tendon laceration in Ehlers-Danlos syndrome. A case report. Bennett, J.B. The Journal of bone and joint surgery. American volume. (1977) [Pubmed]
  18. Small proteoglycan synthesis by skin fibroblasts cultured from elderly donors and patients with defined defects in types I and III collagen metabolism. Vogel, K.G., Clark, P.E. Eur. J. Cell Biol. (1989) [Pubmed]
  19. Long-term survival in truncus arteriosus communis type A1 associated with Ehlers-Danlos syndrome--a case report. Carvalho, G., Silva, A.A., Bestetti, R.B., Leme-Neto, A.C. Angiology. (2002) [Pubmed]
  20. Clinical and echocardiographic survey of the Ehlers-Danlos syndrome. Dolan, A.L., Mishra, M.B., Chambers, J.B., Grahame, R. Br. J. Rheumatol. (1997) [Pubmed]
  21. Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Schwarze, U., Schievink, W.I., Petty, E., Jaff, M.R., Babovic-Vuksanovic, D., Cherry, K.J., Pepin, M., Byers, P.H. Am. J. Hum. Genet. (2001) [Pubmed]
  22. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Takahara, K., Schwarze, U., Imamura, Y., Hoffman, G.G., Toriello, H., Smith, L.T., Byers, P.H., Greenspan, D.S. Am. J. Hum. Genet. (2002) [Pubmed]
  23. Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions. Koppens, P.F., Hoogenboezem, T., Degenhart, H.J. Hum. Mol. Genet. (2002) [Pubmed]
  24. Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis. Le Goff, C., Somerville, R.P., Kesteloot, F., Powell, K., Birk, D.E., Colige, A.C., Apte, S.S. Development (2006) [Pubmed]
  25. A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. Richards, A.J., Martin, S., Nicholls, A.C., Harrison, J.B., Pope, F.M., Burrows, N.P. J. Med. Genet. (1998) [Pubmed]
  26. Structural abnormalities of the cornea and lid resulting from collagen V mutations. Segev, F., Héon, E., Cole, W.G., Wenstrup, R.J., Young, F., Slomovic, A.R., Rootman, D.S., Whitaker-Menezes, D., Chervoneva, I., Birk, D.E. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  27. Cystic kidneys associated with connective tissue disorders. Kaplan, B.S., Kaplan, P., Kessler, A. Am. J. Med. Genet. (1997) [Pubmed]
  28. Altered fibronectin distribution in cultured fibroblasts from patients with Ehlers-Danlos syndrome. Cutolo, M., Castellani, P., Borsi, L., Zardi, L. Clinical and experimental rheumatology. (1986) [Pubmed]
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