German Shepherd Dog — congenital idiopathic megaesophagus, CIM (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_german_shepherd_dog_congenital_idiopathic_megaesophagus_cim_dog category: companion-breed-health title: "German Shepherd Dog — congenital idiopathic megaesophagus, CIM (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/german_shepherd_dog_congenital_idiopathic_megaesophagus_cim_5412.txt date_parsed: 2026-08-02 tokens_estimated: 311 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_german_shepherd_dog_congenital_idiopathic_megaesophagus_cim_dog/01_companion_breed_health_german_shepherd_dog_congenital_idiopathic_megaesophagus_cim_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: "German Shepherd Dog — congenital idiopathic megaesophagus, CIM (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002716/9615/" 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

German Shepherd Dog — congenital idiopathic megaesophagus, CIM (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: German Shepherd Dog (Dog)
• Disorder: congenital idiopathic megaesophagus, CIM
• Summary: See also a href=../../../../../../OMIA000631/9615/OMIA:000631-9615/a : Megaoesophagus, generic in Canis lupus familiaris (dog)nbsp;
• Defect: yes
• Prevalence: Bell et al. (2022) reported that male GSDs are twice as likely to be affected as females and show that the sex bias is independent of body size. We propose that female endogenous factors (e.g., estrogen) are protective via their role in promoting relaxation of the sphincter between the esophagus and stomach, facilitating food passage.
• Control: Bell et al. (2022): Together, sex and the MCHR2 repeat sequence accurately predict affection status in over 75% of dogs, and a genetic test is now available to facilitate breeding decisions aimed at reducing disease incidence.
• Gen test: Kehl and Shelling (2025) assessed the usefulness if the congenital idiopathic megaoesophagus (CIM-test) in White Swiss shepherds: The results showed clearly that the CIM-test in this breed is almost not informative, and a selection would probably not reduce the prevalence but only lower the genetic variability.nbsp;

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: GPR145 (Entrez Gene ID 388199077) — OMIA Phene_Gene / GeneSynonym
• OMIA molecular-genetics note: Bell et al. (2022): "Within the first intron of MCHR2, we identified a 33 bp variable number tandem repeat (VNTR) containing a consensus binding sequence for the T-box family of transcription factors. Across dogs and wolves, the major allele includes two copies of the repeat, whereas the predominant alleles in GSDs have one or three copies. The single-copy allele is strongly associated with CIM [C…

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.

• 2012. Genome-wide association studies for multiple diseases of the German Shepherd Dog. Mamm Genome — PubMed:PMID22105877 | DOI:10.1007/s00335-011-9376-9 — OMIA Phene_Article / Article
• 2022. Congenital idiopathic megaesophagus in the German shepherd dog is a sex-differentiated trait and is associated with an intronic variable number tandem repeat in Melanin-Concentrating Hormone Receptor 2. PLoS Genet — PubMed:PMID35271580 | DOI:10.1371/journal.pgen.1010044 — OMIA Phene_Article / Article
• 2019. Survey of owners on population characteristics, diagnosis, and environmental, health, and disease associations in dogs with megaesophagus. Res Vet Sci — PubMed:PMID30543946 | DOI:10.1016/j.rvsc.2018.11.026 — OMIA Phene_Article / Article
• 2025. Ist der Megaoesophagus-Test beim Weissen Schweizer Schäferhund (Berger Blanc Suisse) aussagekräftig? [Is the megaesophagus test valid for White Swiss Shepherds (Berger Blanc Suisse)?]. Schweiz Arch Tierheilkd — PubMed:PMID40626856 | DOI:10.17236/sat00460 — 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:606111 (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."