OMIA:000328-9685 : Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related in Felis catus |
In other species: cattle , sheep , dog
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 225410 (trait) , 604539 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Species-specific description: Although evidence is incomplete, it appears that this disorder in cats is due to a mutation in the gene for the enzyme procollagen I amino proteinase, which is the enzyme responsible for removing "surplus" amino acids from the N-terminal end of procollagen-I molecules.
Breed: Himalayan (Cat) (VBO_0100117).
References
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 | 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. | |
| 1993 | Lapiere, C.M., Nusgens, B.V. : |
| Ehlers-Danlos syndrome type VII-C, or human dermatosparaxis: the offspring of a union between basic and clinical research Archives of Dermatology 129:1316-1319, 1993. Pubmed reference: 8215498 . | |
| 1980 | Collier, L.L., Leathers, C.W., Counts, D.F. : |
| A clinical description of dermatosparaxis in a Himalayan cat Feline Practice 10:25-36, 1980. | |
| Counts, D.F., Byers, P.H., Holbrook, K.A., Hegreberg, G.A. : | |
| Dermatosparaxis in a Himalayan cat. I. Biochemical studies of dermal collagen Journal of Investigative Dermatology 74:96-99, 1980. Pubmed reference: 7351504 . | |
| Holbrook, K.A., Byers, P.H., Counts, D.F., Hegreberg, G.A. : | |
| Dermatosparaxis in a Himalayan cat. II. Ultrastructural studies of dermal collagen Journal of Investigative Dermatology 74:100-104, 1980. Pubmed reference: 7351497 . |
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- Created by Frank Nicholas on 16 Jul 2005