OMIA:000327-9615 : Ehlers-Danlos syndrome, generic in Canis lupus familiaris (dog)

In other species: domestic cat , horse , sheep , rabbit , Campbell's desert hamster , American mink

Categories: Integument (skin) phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 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 (see gene-specific entries in OMIA). 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.

Breeds: Dachshund, Miniature (Dog) (VBO_0200408), Pastor Garafiano, Spain (Dog) (VBO_0008023).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000327-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2023 Choi, S., Sullivan, L., Long, S. :
Case report: Atlantoaxial instability and subluxation in a dog with Ehlers-Danlos syndrome. Front Vet Sci 10:1234995, 2023. Pubmed reference: 37601761. DOI: 10.3389/fvets.2023.1234995.
2021 Roberts, J.H., Halper, J. :
Connective tissue disorders in domestic animals. Adv Exp Med Biol 1348:325-335, 2021. Pubmed reference: 34807427. DOI: 10.1007/978-3-030-80614-9_15.
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.
2015 Uri, M., Verin, R., Ressel, L., Buckley, L., McEwan, N. :
Ehlers-Danlos syndrome associated with fatal spontaneous vascular rupture in a dog. J Comp Pathol 152:211-6, 2015. Pubmed reference: 25680848. DOI: 10.1016/j.jcpa.2014.12.013.
2014 Halper, J. :
Connective tissue disorders in domestic animals. Adv Exp Med Biol 802:231-40, 2014. Pubmed reference: 24443030. DOI: 10.1007/978-94-007-7893-1_14.
2004 Barrera, R., MaƱe, C., Duran, E., Vives, M.A., Zaragoza, C. :
Ehlers-Danlos syndrome in a dog. Can Vet J 45:355-6, 2004. Pubmed reference: 15144116.
2003 Paciello, O., Lamagna, F., Lamagna, B., Papparella, S. :
Ehlers-Danlos-like syndrome in 2 dogs: clinical, histologic, and ultrastructural findings Veterinary Clinical Pathology 32:13-8, 2003. Pubmed reference: 12655483.
Stoner, J., Martin, G., O'Mara, K., Ehlers, J., Tomlanovich, M. :
Amiodarone and bretylium in the treatment of hypothermic ventricular fibrillation in a canine model. Acad Emerg Med 10:187-91, 2003. Pubmed reference: 12615580.
1998 Jelinek, F., Karban, J. :
Cutaneous asthenia in one dog Acta Veterinaria Brno 67:109 ff., 1998.
1996 Rodriguez, F., Herraez, P., Delosmonteros, A.E., Calabuig, P., Rodriguez, J.L. :
Collagen dysplasia in a litter of Garafiano shepherd dogs Zentralblatt Fur Veterinarmedizin - Reihe A 43:509-512, 1996. Pubmed reference: 8940898.
1993 White, S.D. :
Congenital and genetic skin disease. Tijdschr Diergeneeskd 118 Suppl 1:53S-57S, 1993. Pubmed reference: 8480320.
1990 Matthews, B.R., Lewis, G.T. :
Ehlers-Danlos Syndrome in a dog. Canadian Veterinary Journal-Revue Veterinaire Canadienne 31:389-390, 1990.
1989 Freeman, L.J., Hegreberg, G.A., Robinette, J.D., Kimbrell, J.T. :
Biomechanical properties of skin and wounds in Ehlers-Danlos syndrome. Vet Surg 18:97-102, 1989. Pubmed reference: 2728342.
Freeman, L.J., Hegreberg, G.A., Robinette, J.D. :
Cutaneous wound healing in Ehlers-Danlos syndrome. Vet Surg 18:88-96, 1989. Pubmed reference: 2728341.
1987 Freeman, L.J., Hegreberg, G.A., Robinette, J.D. :
Ehlers-Danlos syndrome in dogs and cats. Semin Vet Med Surg (Small Anim) 2:221-7, 1987. Pubmed reference: 3423466.
1970 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.
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.
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.

Edit History

  • Created by Frank Nicholas on 16 Jul 2005
  • Changed by Imke Tammen2 on 22 Aug 2023