{"topic_id":"companion_breed_health_munchkin_feline_familial_hcm_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_munchkin_feline_familial_hcm_cat\ncategory: companion-breed-health\ntitle: \"Munchkin — Feline familial HCM (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/munchkin_feline_familial_hcm_6367.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 174\nverification:\n method: substring_match\n claims: 5\n passed: 5\n date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_munchkin_feline_familial_hcm_cat/01_companion_breed_health_munchkin_feline_familial_hcm_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: \"Munchkin — Feline familial HCM (hereditary; OMIA-verified breed predisposition)\"\n url: \"https://omia.org/OMIA002951/9685/\"\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# Munchkin — Feline familial HCM (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: Munchkin (Cat)`\n- `Disorder: Feline familial HCM`\n- `Mode of inheritance: Autosomal dominant`\n- `Summary: Information listed here was previously listed under 'a href=../../../../../../OMIA000515/9685/OMIA:000515-9685/a : Cardiomyopathy, hypertrophic', an entry that now describes generic information about HCM. See also 'a href=../../../../../../OMIA002952/9685/OMIA:002952-9685/a : Cardiomyopathy, hypertrophic, MYBPC3-related, autosomal recessive' for recessive [30/04/2025].nbsp;brThe original entry was edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT and has been updated.`\n- `Defect: yes`\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/.txt source file.\n- Gene: Entrez Gene ID 398299006 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note:  HCM is genetically heterogeneous in the overall cat population. By sequencing a very likely comparative candidate gene (based on the homologous human disorder), Meurs et al. (2005) identified the causative mutation in Maine Coon cats as a G to C substitution in exon 3, codon 31 of MYBPC3 (omia.variant:901, see 'OMIA:002952-9685 : Cardiomyopath…\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/.txt source file.\n- 1999. Familial hypertrophic cardiomyopathy in Maine Coon cats - An animal model of human disease. Circulation — PubMed:PMID10377082 | DOI:10.1161/01.cir.99.24.3172 — OMIA Phene_Article / Article\n- 2005. A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum Mol Genet — PubMed:PMID16236761 | DOI:10.1093/hmg/ddi386 — OMIA Phene_Article / Article\n- 2010. Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats. J Vet Intern Med — PubMed:PMID20412438 | DOI:10.1111/j.1939-1676.2010.0514.x — OMIA Phene_Article / Article\n- 2010. Re: Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats. J Vet Intern Med — PubMed:PMID21054533 | DOI:10.1111/j.1939-1676.2010.0614.x — OMIA Phene_Article / Article\n- 2010. The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans. Int J Cardiol — PubMed:PMID20542340 | DOI:10.1016/j.ijcard.2010.04.032 — OMIA Phene_Article / Article\n- 2007. A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics — PubMed:PMID17521870 | DOI:10.1016/j.ygeno.2007.04.007 — OMIA Phene_Article / Article\n- 2013. Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathy. J Vet Intern Med — PubMed:PMID23323744 | DOI:10.1111/jvim.12031 — OMIA Phene_Article / Article\n- 2014. Prevalence and demographics of the MYBPC3-mutations in ragdolls and Maine coons in the British Isles. J Small Anim Pract — PubMed:PMID24602043 | DOI:10.1111/jsap.12201 — OMIA Phene_Article / Article\n- 2015. The influence of clinical and genetic factors on left ventricular wall thickness in Ragdoll cats. J Vet Cardiol — PubMed:PMID26776584 | DOI:10.1016/j.jvc.2015.06.005 — OMIA Phene_Article / Article\n- 2014. Association of the myosin binding protein C3 mutation (MYBPC3 R820W) with cardiac death in a survey of 236 Ragdoll cats. J Vet Cardiol — PubMed:PMID24906243 | DOI:10.1016/j.jvc.2014.03.005 — OMIA Phene_Article / Article\n- 2022. Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet — PubMed:PMID35709088 | DOI:10.1371/journal.pgen.1009804 — OMIA Phene_Article / Article\n- 2023. Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan. PLoS One — PubMed:PMID37071642 | DOI:10.1371/journal.pone.0283433 — OMIA Phene_Article / Article\n- (6 additional references in OMIA)\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/.txt source file.\n- OMIM:600958 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:615396 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:115197 (type: trait) — 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 — Munchkin — Feline familial HCM (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Munchkin — Feline familial HCM (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/10377082/","retrieved":"","ref":"PMID 10377082","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":1088,"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."}