{"topic_id":"companion_breed_health_himalayan_omia37_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_himalayan_omia37_cat\ncategory: companion-breed-health\ntitle: \"Himalayan — Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/himalayan_omia37_37.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 240\nverification:\n  method: substring_match\n  claims: 7\n  passed: 7\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_himalayan_omia37_cat/01_companion_breed_health_himalayan_omia37_cat.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Himalayan — Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000328/9685/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Himalayan — Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Himalayan (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: 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.`\n- `Clin feat: Simon et al. (2023): The [European domestic shorthair] kittens had easily torn skin resulting in non-healing skin wounds.`\n- `Defect: yes`\n- `Pathology: 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.`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 389725682 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- 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…\n\n## Evidence (references)\nDerived 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.\n- 1980. A clinical description of dermatosparaxis in a Himalayan cat. Feline Practice — OMIA Phene_Article / Article\n- 1980. Dermatosparaxis in a Himalayan cat. I. Biochemical studies of dermal collagen. Journal of Investigative Dermatology — PubMed:PMID7351504 — OMIA Phene_Article / Article\n- 1980. Dermatosparaxis in a Himalayan cat. II. Ultrastructural studies of dermal collagen. Journal of Investigative Dermatology — PubMed:PMID7351497 — OMIA Phene_Article / Article\n- 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\n- 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\n- 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\n- 2020. The Ehlers-Danlos syndromes. Nat Rev Dis Primers — PubMed:PMID32732924 | DOI:10.1038/s41572-020-0194-9 — OMIA Phene_Article / Article\n- 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\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:225410 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:604539 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Himalayan — Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Himalayan — Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/7351504/","retrieved":"","ref":"PMID 7351504","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":907,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}