OMIA:000631-9615 : Megaoesophagus, generic in Canis lupus familiaris (dog)

In other species: domestic ferret , domestic cat , horse , llama , taurine cattle , goat , sheep

Categories: Digestive / alimentary phene

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Dilatation and atony of the body of the oesophagus, usually associated with asynchronous function of the oesophagus and the caudal oesophageal sphincter. Causes regurgitation and aspiration pneumonia. This disorder occurs in many different forms, many of which are not inherited.

Species-specific name: Congenital idiopathic megaesophagus

Species-specific description: For detailed information on megaoesophagus in German Shepherd dogs due to variants in the MCHR2 gene see 'OMIA:002716-9615 : Megaoesophagus, MCHR2-related in Canis lupus familiaris'

Mapping: Bell et al. (2023): "Great Danes have among the highest incidences of CIM across dog breeds, suggesting a genetic predisposition. We generated low-pass sequencing data for 83 Great Danes and used variant calls to impute missing whole genome single-nucleotide variants (SNVs) for each individual based on haplotypes phased from 624 high-coverage dog genomes, including 21 Great Danes. ... We conducted a GWAS for CIM [congenital idiopathic megaoesophagus] with 2,010,300 SNVs, identifying a novel locus on canine chromosome 1 (P-val = 2.76 × 10-10). Associated SNVs are intergenic or intronic and are found in two clusters across a 1.7-Mb region. Inspection of coding regions in high-coverage genomes from affected Great Danes did not reveal candidate causal variants, suggesting that regulatory variants underlie CIM."

Breeds: Chinese Shar-Pei (Dog) (VBO_0200351), Dachshund (Dog) (VBO_0200406), Fox Terrier (Dog) (VBO_0200530), Goldendoodle (Dog) (VBO_0200611), Great Dane (Dog) (VBO_0200623), Irish Setter (Dog) (VBO_0200702), Labrador Retriever (Dog) (VBO_0200800), Miniature Schnauzer (Dog) (VBO_0200896), Newfoundland (Dog) (VBO_0200938), Parson Russell Terrier (Dog) (VBO_0200987), Schnauzer (Dog) (VBO_0201185), Springer Spaniel (Dog) (VBO_0201287).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000631-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 Becker, C.B., Jensen, H.E. :
Clinicopathologic evaluation of congenital idiopathic megaesophagus in a Gordon Setter puppy: a case report and development and application of peripherin immunohistochemistry for detection of ganglion cells. J Vet Diagn Invest :10406387241226950, 2024. Pubmed reference: 38305240. DOI: 10.1177/10406387241226950.
2023 Bell, S.M., Evans, J.M., Greif, E.A., Tsai, K.L., Friedenberg, S.G., Clark, L.A. :
GWAS using low-pass whole genome sequence reveals a novel locus in canine congenital idiopathic megaesophagus. Mamm Genome 34:464-472, 2023. Pubmed reference: 37041421. DOI: 10.1007/s00335-023-09991-2.
2022 Bell, S.M., Evans, J.M., Evans, K.M., Tsai, K.L., Noorai, R.E., Famula, T.R., Holle, D.M., Clark, L.A. :
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 18:e1010044, 2022. Pubmed reference: 35271580. DOI: 10.1371/journal.pgen.1010044.
Lyngby, J.G., Haines, J.M., Guess, S.C. :
Use of a videofluoroscopic feeding evaluation to guide management of dogs with congenital idiopathic megaoesophagus. Vet Med Sci 8:1434-1442, 2022. Pubmed reference: 35476311. DOI: 10.1002/vms3.821.
2019 Haines, J.M. :
Survey of owners on population characteristics, diagnosis, and environmental, health, and disease associations in dogs with megaesophagus. Res Vet Sci 123:1-6, 2019. Pubmed reference: 30543946. DOI: 10.1016/j.rvsc.2018.11.026.
Nakagawa, T., Doi, A., Ohno, K., Yokoyama, N., Tsujimoto, H. :
Clinical features and prognosis of canine megaesophagus in Japan. J Vet Med Sci 81:348-352, 2019. Pubmed reference: 30626762. DOI: 10.1292/jvms.18-0493.
2016 Manning, K., Birkenheuer, A.J., Briley, J., Montgomery, S.A., Harris, J., Vanone, S.L., Gookin, J.L. :
Intermittent at-home suctioning of esophageal content for prevention of recurrent aspiration pneumonia in 4 dogs with megaesophagus. J Vet Intern Med 30:1715-1719, 2016. Pubmed reference: 27481487. DOI: 10.1111/jvim.14527.
2012 Mace, S., Shelton, G.D., Eddlestone, S. :
Megaesophagus. Compend Contin Educ Vet 34:E1, 2012. Pubmed reference: 22488663.
Tsai, K.L., Noorai, R.E., Starr-Moss, A.N., Quignon, P., Rinz, C.J., Ostrander, E.A., Steiner, J.M., Murphy, K.E., Clark, L.A. :
Genome-wide association studies for multiple diseases of the German Shepherd Dog. Mamm Genome 23:203-11, 2012. Pubmed reference: 22105877. DOI: 10.1007/s00335-011-9376-9.
2011 McBrearty, A.R., Ramsey, I.K., Courcier, E.A., Mellor, D.J., Bell, R. :
Clinical factors associated with death before discharge and overall survival time in dogs with generalized megaesophagus. J Am Vet Med Assoc 238:1622-8, 2011. Pubmed reference: 21671818. DOI: 10.2460/javma.238.12.1622.
2009 Johnson, B.M., DeNovo, R.C., Mears, E.A. :
Canine megaesophagus. Kirk’s Current Veterinary Therapy. 14th ed., Saunders Elsevier, St. Louis :486-492, 2009.
2002 Watrous, B.J., Blumenfeld, B. :
Congenital megaesophagus with hypertrophic osteopathy in a 6-year-old dog Veterinary Radiology & Ultrasound 43:545-549, 2002. Pubmed reference: 12502108.
2001 Hopper, K., Beck, C., Slocombe, R. :
Megaoesophagus in adult dogs secondary to Australian tiger snake envenomation Australian Veterinary Journal 79:672-675, 2001. Pubmed reference: 11712704.
Huber, E., Armbrust, W., Forster, J.L., Ribiere, T., Grosclaude, P. :
Megaoesophagus in the dog: a case report Schweizer Archiv fur Tierheilkunde 143:512-514, 2001. Pubmed reference: 11680912.
2000 Torres, P. :
Esophagus-diaphragmatic Cardioplasty for the treatment of the idiopathic congenital total megaesophagus in dogs [Spanish] Archivos de Medicina Veterinaria 32:121-130, 2000.
1999 Plotnick, A.N. :
Megaesophagus and hypothyroidism in an English Springer Spaniel and response to thyroxine supplementation Canine Practice 24:14-17, 1999.
Rossmeisl, J.H., Blevins, W.E., Widmer, W.R. :
What is your diagnosis? Diagnosis - Radiographic diagnosis - Megaesophagus and gastrointestinal atony Journal of the American Veterinary Medical Association 215:782-+, 1999. Pubmed reference: 10496127.
1997 Borbe, J., Walla, L. :
Surgical and postoperative management of canine megaesophagus [German] Kleintierpraxis 42:329-332, 1997.
Gaynor, A.R., Shofer, F.S., Washabau, R.J. :
Risk factors for acquired megaesophagus in dogs Journal of the American Veterinary Medical Association 211:1406 ff., 1997.
Mears, E.A., Jenkins, C.C. :
Canine and feline megaesophagus Compendium on Continuing Education for the Practicing Veterinarian 19:313 ff., 1997.
Torres, P. :
Megaesophagus in the dog - a bibliographic review and a new classification proposal [Review] [Spanish] Archivos de Medicina Veterinaria 29:13-23, 1997.
1996 Holland, C.T., Satchell, P.M., Farrow, B.R.H. :
Vagal esophagomotor nerve function and esophageal motor performance in dogs with congenital idiopathic megaesophagus American Journal of Veterinary Research 57:906-913, 1996. Pubmed reference: 8725822.
1995 Whitley, N.T. :
Megaoesophagus and glucocorticoid-deficient hypoadrenocorticism in a dog Journal of Small Animal Practice 36:132-135, 1995. Pubmed reference: 7783439.
1994 Holland, C.T., Shelton, G.D., Satchell, P.M., Farrow, B.R.H. :
Antibodies to nicotinic acetylcholine receptors in dogs with megaoesophagus. Australian Veterinary Journal 71:221-222, 1994. Pubmed reference: 7945104.
Matros, L., Jergens, A.E., Miles, K.G., Kluge, J.P. :
Megaesophagus and hypomotility associated with esophageal leiomyoma in a dog. Journal of the American Animal Hospital Association 30:15-19, 1994.
Thilagar, S., Balasubramanian, N.N., David, W.P.A., Sasikala, S. :
A clinical survey of megaesophagus in the dog. Indian Veterinary Journal 71:921-922, 1994.
1993 Holland, C.T., Satchell, P.M. :
Megaoesophagus in the dog and cat. Recueil de Medecine Veterinaire 169:969-983, 1993.
Holland, C.T., Satchell, P.M., Farrow, B.R.H. :
Oesophageal compliance in naturally occurring canine megaoesophagus. Australian Veterinary Journal 70:414-420, 1993. Pubmed reference: 8280024.
1990 Guilford, W.G. :
Megaesophagus in the dog and cat. Semin Vet Med Surg Small Anim 5:37-45, 1990. Pubmed reference: 2191392.
Knowles, K.E., Obrien, D.P., Amann, J.F. :
Congenital idiopathic megaesophagus in a litter of Chinese Shar-Peis - Clinical, electrodiagnostic, and pathological findings. Journal of the American Animal Hospital Association 26:313-318, 1990.
1974 Harvey, C.E., O'Brien, J.A., Durie, V.R., Miller, D.J., Veenema, R. :
Megaesophagus in the dog: a clinical survey of 79 cases. J Am Vet Med Assoc 165:443-6, 1974. Pubmed reference: 4420331.
1957 Michael, S.J. :
Regurgitation in pups. II. Megaesophagus in a pup Journal of the American Veterinary Medical Association 130:284 only, 1957. Pubmed reference: 13416103.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 20 May 2013
  • Changed by Frank Nicholas on 13 Mar 2022
  • Changed by Imke Tammen2 on 22 Apr 2023
  • Changed by Imke Tammen2 on 09 Jun 2023
  • Changed by Imke Tammen2 on 25 May 2024