--- license: permission_granted topic_id: companion_breed_health_himalayan_omia37_cat category: companion-breed-health title: "Himalayan — Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/himalayan_omia37_37.txt date_parsed: 2026-08-02 tokens_estimated: 240 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_himalayan_omia37_cat/01_companion_breed_health_himalayan_omia37_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Himalayan — Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000328/9685/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Himalayan — Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Himalayan (Cat)Disorder:Mode of inheritance: Autosomal recessiveSummary: Although evidence was initially incomplete, this disorder in cats was expected to be due to variants 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. Simon et al. (2023) confirmed that the disease in European domestic shorthair cats is due to emADAMTS2/em loss-of-function variants.Clin feat: Simon et al. (2023): The [European domestic shorthair] kittens had easily torn skin resulting in non-healing skin wounds.Defect: yesPathology: Simon et al. (2023): Both clinically and histologically, the skin [of affected European domestic shorthair kittens] showed thin epidermis in addition to inflammatory changes. Changes in collagen fibers were visible in electron micrographs.
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 389725682 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Simon et al. (2023): "The complete genome of an affected [European domestic shorthair] kitten was sequenced. A one base pair duplication, c.698dup [omia.variant:1589], leading to a frameshift in the candidate gene <em>ADAMTS2</em> was identified, p.(Ser235fs*3). The variant is located in a polyC stretch and leads to an expansion from 8 to 9 cytosines in the mutant allele. All four affected cats [s…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1980. A clinical description of dermatosparaxis in a Himalayan cat. Feline Practice — OMIA Phene_Article / Article
- 1980. Dermatosparaxis in a Himalayan cat. I. Biochemical studies of dermal collagen. Journal of Investigative Dermatology — PubMed:PMID7351504 — OMIA Phene_Article / Article
- 1980. Dermatosparaxis in a Himalayan cat. II. Ultrastructural studies of dermal collagen. Journal of Investigative Dermatology — PubMed:PMID7351497 — OMIA Phene_Article / Article
- 1993. Ehlers-Danlos syndrome type VII-C, or human dermatosparaxis: the offspring of a union between basic and clinical research. Archives of Dermatology — PubMed:PMID8215498 — OMIA Phene_Article / Article
- 2021. Animal models of Ehlers-Danlos syndromes: Phenotype, pathogenesis, and translational potential. Front Genet — PubMed:PMID34712265 | DOI:10.3389/fgene.2021.726474 — OMIA Phene_Article / Article
- 2021. Connective tissue disorders in domestic animals. Adv Exp Med Biol — PubMed:PMID34807427 | DOI:10.1007/978-3-030-80614-9_15 — OMIA Phene_Article / Article
- 2020. The Ehlers-Danlos syndromes. Nat Rev Dis Primers — PubMed:PMID32732924 | DOI:10.1038/s41572-020-0194-9 — OMIA Phene_Article / Article
- 2023. Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers-Danlos syndrome. G3 (Bethesda) — PubMed:PMID37462293 | DOI:10.1093/g3journal/jkad152 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:225410 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:604539 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."