--- license: permission_granted topic_id: companion_breed_health_schnauzer_standard_omia4561_dog category: companion-breed-health title: "Schnauzer, Standard — Cardiomyopathy, dilated, RBM20-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/schnauzer_standard_omia4561_4561.txt date_parsed: 2026-08-02 tokens_estimated: 511 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_schnauzer_standard_omia4561_dog/01_companion_breed_health_schnauzer_standard_omia4561_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Schnauzer, Standard — Cardiomyopathy, dilated, RBM20-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002365/9615/" 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
Schnauzer, Standard — Cardiomyopathy, dilated, RBM20-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: Schnauzer, Standard (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Harmon et al. (2017): describe the clinical features of DCM in standard schnauzers. Medical records for 15 standard schnauzers diagnosed with DCM were reviewed. The median age at diagnosis of DCM was 1.6 yr, with all dogs developing left-sided congestive heart failure (CHF). The median age of onset of CHF was 1.6 yr, and was significantly shorter in males (1.5 yr) than for females (2.35 yr). The median survival time after diagnosis of CHF was 22 days, and was shorter in males (13 days) than females (62 days). Median lifespan is shorter (3.06 years) in standard schnauzers homozygous for the mutation compared to those heterozygous (15.11 years) or wild-type (15.18 years) (Leach et al., 2022) [IT thanks DVM student Caitlin Henning for contribution to this entry in April 2022].Defect: yesPathology: In the study by Harmon et al. (2017), postmortems performed on 5 SSNZ with DCM revealed moderate to marked cardiomegaly with biventricular dilation in all dogs. Histopathological examination performed on the left ventricle and interventricular septum showed myocyte degeneration in 4 out of 5 SSNZ, and increased interstitial fibrosis and myocyte attenuation in 3 SSNZ. [IT thanks DVM student Regis Tang, who provided the basis of this contribution in April 2022.]Prevalence: Leach et al. (2022) genotyped 2136 samples from 14 different dog breeds for the associated RBM20 variant. ... approximately 21% of all tested SSNZ [standard schnauzer] samples carried at least one allele of the RBM20 variant, with 93% of those samples testing HET for the gene variant. Only 1.5% of the tested SSNZ samples were HOM for the gene variant. ... The RBM20 variant was also identified in GSNZ [giant schnauzer] dogs and was associated with DCM and premature death. The gene variant was not found in any of the 36 samples from breeds other than SSNZ or GSNZ.
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 388252456 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
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.
- 2017. Dilated cardiomyopathy in standard schnauzers: Retrospective study of 15 cases. J Am Anim Hosp Assoc — PubMed:PMID27841675 | DOI:10.5326/JAAHA-MS-6506 — OMIA Phene_Article / Article
- 2014. Dilated cardiomyopathy in standard schnauzers with a homozygous 22 bp deletion in RBM20. Proceedings of the 32nd ACVIM Forum, 2014 June 4–7; Nashville, TN, USA. — DOI:https://doi.org/10.1111/jvim.12375 — OMIA Phene_Article / Article
- 2022. Prevalence, geographic distribution, and impact on lifespan of a dilated cardiomyopathy-associated RNA-binding motif protein 20 variant in genotyped dogs. J Vet Cardiol — PubMed:PMID34144877 | DOI:10.1016/j.jvc.2021.05.002 — OMIA Phene_Article / Article
- 2022. Screening for dilated cardiomyopathy in dogs. J Vet Cardiol — PubMed:PMID34732313 | DOI:10.1016/j.jvc.2021.09.004 — OMIA Phene_Article / Article
- 2003. Proposed guidelines for the diagnosis of canine idiopathic dilated cardiomyopathy. J Vet Cardiol — PubMed:PMID19081360 | DOI:10.1016/S1760-2734(06)70047-9 — OMIA Phene_Article / Article
- 2022. Genetic basis of dilated cardiomyopathy in dogs and its potential as a bidirectional model. Animals (Basel) — PubMed:PMID35804579 | DOI:10.3390/ani12131679 — 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
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:613172 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:613171 (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."