OMIA 000327-452646 : Ehlers-Danlos syndrome, generic in Neovison vison
In other species: dog , rabbit , domestic cat , sheep , horse Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 120150 (gene) , 130000 (trait) , 130010 (trait) , 130020 (trait) , 130050 (trait) , 130060 (trait) , 130070 (trait) , 130080 (trait) , 130090 (trait) , 147900 (trait) , 225310 (trait) , 225320 (trait) , 225400 (trait) , 225410 (trait) , 229200 (trait) Mendelian trait/disorder: yes Considered a defect: yes Key variant known: no Cross-species summary: Also known as cutaneous asthenia (CA) or hyperelastosis cutis (HC). Some animals are born with easily extendible and very fragile skin. Severe lacerations result from the slightest scratch. The basic cause of these severe clinical signs is the presence of abnormal collagen in the skin. There are several genes encoding peptides that form procollagen molecules. There are also several genes encoding enzymes that remove excess amino acids from each end of the procollagen molecules, creating mature collagen. Mutations in any of these genes can give rise to Ehlers-Danlos syndrome. In general, mutations in collagen structural genes result in dominant forms of the disorder, because heterozygotes produce 50 per cent abnormal collagen molecules. In contrast, mutations in the genes for the enzymes that "process" procollagen generally result in recessive forms of the disorder, because the 50 per cent of normal enzyme activity that occurs in heterozygotes is sufficient to "process" all procollagen molecules. In humans, a detailed classification of the different types of Ehlers-Danlos syndrome has been made, corresponding to mutations in the different genes involved. In animals, most occurrences of the disorder have to be lumped together because the detailed studies necessary for classification have not yet been conducted.
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Vroman, R., Malfait, A.M., Miller, R.E., Malfait, F., Syx, D. :|
|Animal models of Ehlers-Danlos syndromes: Phenotype, pathogenesis, and translational potential. Front Genet 12:726474, 2021. Pubmed reference: 34712265. DOI: 10.3389/fgene.2021.726474.|
|1970||Hegreberg, G.A., Padgett, G.A., Henson, J.B. :|
|A heritable connective tissue disease of dogs and mink resembling Ehlers- Danlos syndrome of man. III. Histopathologic changes of the skin Archives of Pathology 90:159-166, 1970. Pubmed reference: 5464798.|
|Hegreberg, G.A., Padgett, G.A., Ott, R.L., Henson, J.B. :|
|A heritable connective tissue disease of dogs and mink resembling Ehlers-Danlos syndrome of man. I. Skin tensile strength properties. J Invest Dermatol 54:377-80, 1970. Pubmed reference: 5462224.|
|1969||Hegreberg, G.A., Padgett, G.A., Gorham, J.R., Henson, J.B. :|
|A connective tissue disease of dogs and mink resembling the Ehlers-Danlos syndrome of man. II. Mode of inheritance. J Hered 60:249-54, 1969. Pubmed reference: 5366318.|
- Created by Frank Nicholas on 16 Jul 2005
- Changed by Frank Nicholas on 09 Nov 2013