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).


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