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Munchkin — Cardiomyopathy, hypertrophic, ALMS1-related (hereditary; OMIA-verified breed predisposition)

companion_breed_health_munchkin_omia4466_cat

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--- license: permission_granted topic_id: companion_breed_health_munchkin_omia4466_cat category: companion-breed-health title: "Munchkin — Cardiomyopathy, hypertrophic, ALMS1-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/munchkin_omia4466_4466.txt date_parsed: 2026-08-02 tokens_estimated: 339 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_munchkin_omia4466_cat/01_companion_breed_health_munchkin_omia4466_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: "Munchkin — Cardiomyopathy, hypertrophic, ALMS1-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002316/9685/" 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

Munchkin — Cardiomyopathy, hypertrophic, ALMS1-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: Munchkin (Cat)
  • Disorder:
  • Mode of inheritance: Probably autosomal recessive
  • Defect: yes
  • Pathology: Meurs et al. (2021): Light microscopy findings included myofiber disarray with interstitial fibrosis with significantly more nuclear proliferative activity in the affected cats than controls (p lt; 0.0001).
  • Prevalence: The association between an ALMS1 variant and hypertrophic cardiomyopathy was first reported in Sphynx cats (Meurs et al., 2021). Akiyama et al. (2023) investigate “the ubiquitous occurrence of HCM-associated genetic variants [Myosin binding protein C3:em /emMYBPC3 p.A31P, p.A74T, p.R820W; Myosin heavy chain 7: MYH7 p.E1883K; Alstrom syndrome protein 1: ALMS1 p.G3376R] among cat breeds, using 57 HCM-affected, 19 HCM-unaffected, and 227 non-examined cats from the Japanese population. Genotyping of the five variants revealed the presence of MYBPC3 p.A31P and ALMS1 p.G3376R in two (Munchkin and Scottish Fold) and five non-specific breeds (American Shorthair, Exotic Shorthair, Minuet, Munchkin and Scottish Fold), respectively, in which the variants had not been identified previously. … Overall, our results suggest that these two specific variants may still be found in other cat breeds and should be examined in detail in a population-driven manner.”

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 389726702 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • OMIA molecular-genetics note: Meurs et al. (2021) "DNA from 14 affected Sphynx cats and the 13 control cats was submitted for ... whole genome sequencing ... . The most promising variants were selected for further evaluation by Sanger Sequencing of DNA from 68 affected Sphynx diagnosed as previously described and the 214 cats with no known history of cardiac disease (controls). ... A G/C variant [omia.variant:1292] was identif…

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.

  • 2021. A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat. Orphanet J Rare Dis — PubMed:PMID33639992 | DOI:10.1186/s13023-021-01740-5 — OMIA Phene_Article / Article
  • 2021. The feline cardiomyopathies: 1. General concepts. J Feline Med Surg — PubMed:PMID34693806 | DOI:10.1177/1098612X211021819 — OMIA Phene_Article / Article
  • 2012. Prospective echocardiographic and tissue Doppler screening of a large Sphynx cat population: reference ranges, heart disease prevalence and genetic aspects. J Vet Cardiol — PubMed:PMID23131204 | DOI:10.1016/j.jvc.2012.08.001 — OMIA Phene_Article / Article
  • 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
  • 2023. HCM-associated ALMS1 variant: Allele drop-out and frequency in Italian Sphynx cats. Anim Genet — PubMed:PMID37345275 | DOI:10.1111/age.13340 — OMIA Phene_Article / Article
  • 2023. The role of personalized medicine in companion animal cardiology. Vet Clin North Am Small Anim Pract — PubMed:PMID37423841 | DOI:10.1016/j.cvsm.2023.05.016 — OMIA Phene_Article / Article
  • 2024. Genetic basis of hypertrophic cardiomyopathy in cats. Curr Issues Mol Biol — PubMed:PMID39194734 | DOI:10.3390/cimb46080517 — OMIA Phene_Article / Article
  • 2024. Prevalence of hypertrophic cardiomyopathy and ALMS1 variant in Sphynx cats in New Zealand. Animals (Basel) — PubMed:PMID39335220 | DOI:10.3390/ani14182629 — OMIA Phene_Article / Article
  • 2024. Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines. Front Vet Sci — PubMed:PMID38371598 | DOI:10.3389/fvets.2024.1327081 — OMIA Phene_Article / Article
  • 2024. Corrigendum: Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines. Front Vet Sci — PubMed:PMID39188901 | DOI:10.3389/fvets.2024.1458433 — OMIA Phene_Article / Article
  • 2025. Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing. Sci Rep — PubMed:PMID39890868 | DOI:10.1038/s41598-025-87852-5 — OMIA Phene_Article / Article
  • 2026. Characterisation of a missense variant of the Alström syndrome centrosome and basal body associated protein (ALMS1) gene associated with cardiomyopathy using induced pluripotent stem cells. Genes (Basel) — PubMed:PMID41751610 | DOI:10.3390/genes17020227 — OMIA Phene_Article / Article
  • (1 additional references in OMIA)

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:606844 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:203800 (type: trait) — 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."

Sources

Munchkin — Cardiomyopathy, hypertrophic, ALMS1-related (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 33639992

Machine access

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