OMIA:000573-9615 : Ciliary dyskinesia, primary, generic in Canis lupus familiaris (dog)

In other species: domestic cat , pig

Categories: Respiratory system phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 244400 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Congenital defect in functioning of the cilia, which are minute hair-like processes that extend from cell surfaces, beating ryhthmically to move fluid or mucous over the surface. The abnormal functioning results in bronchiectasis (chronic dilation of the bronchi and bronchioles, with associated infection) and sinusitis (inflammation of one or more of the paranasal sinuses). It is also associated with dextrocardia (location of the heart in the right side of the thorax, rather than the usual left side). This phene was renamed in OMIA from 'Kartagener syndrome' to 'Ciliary dyskinesia, primary, generic' [3/6/2022].

Species-specific name: Several types of primary ciliary dyskinesia (also called Kartagener syndrome, immotile-cilia syndrome) exist. This entry focuses on primary ciliary dyskinesia for which likely causal variants have not been identified. Types of this disease for which a causal gene has been identified are listed in separate entries, e.g. 'OMIA002206-9615 : Ciliary dyskinesia, primary, NME5-related in Canis lupus familiaris' (Alaskan Malamute) or 'OMIA001540-9615 : Ciliary dyskinesia, primary, CCDC39-related in Canis lupus familiaris' (Old English Sheepdog).

Molecular basis: Hedgespeth et al. (2021) "identified a novel mutation of the NAT10 gene in a young Schnauzer dog with chronic respiratory tract infections, gastrointestinal tract abnormalities, and chronic leukocytosis. ...The variant in the NAT10 gene (ENSCAFG00000007028) was a heterozygous A/C missense mutation on chromosome 18 at position 33675758 ... . The variant changed the amino acid from a highly conserved positively charged histidine to a polar uncharged glutamine ... . The variant was predicted to be a deleterious change by all 3 in silico prediction algorithms. ... It is possible that the dog's recurrent bacterial pneumonia was secondary to ciliary dyskinesia, aplasia, or both as a result of inappropriate NAT10 function." No ciliary analysis to determine whether ciliary dysfunction or aplasia was present was conducted (Hedgespeth et al. 2021). The variant is therefore currently not listed in OMIA's likely causal variant table.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breeds: Bichon Frise (Dog) (VBO_0200163), Chinese Shar-Pei (Dog) (VBO_0200351), Chow Chow (Dog) (VBO_0200361), Dachshund (Dog) (VBO_0200406), Dalmatian (Dog) (VBO_0200427), Doberman Pinscher (Dog) (VBO_0200442), English Setter (Dog) (VBO_0200495), English Springer Spaniel (Dog) (VBO_0200497), Golden Retriever (Dog) (VBO_0200610), Newfoundland (Dog) (VBO_0200938), Rottweiler (Dog) (VBO_0201143), Schnauzer (Dog) (VBO_0201185), Staffordshire Bull Terrier (Dog) (VBO_0201296).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NAT10 N-acetyltransferase 10 (GCN5-related) Canis lupus familiaris 18 NC_051822.1 (34303932..34265986) NAT10 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:000573-9615: 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.

2023 Jung, R., Choi, J., Bae, H., Jung, D.I., Cho, K.O., Yu, D. :
Siewert-Kartagener's syndrome in a dog. J Vet Sci 24:e57, 2023. Pubmed reference: 37532300. DOI: 10.4142/jvs.23029.
2021 Hedgespeth, B.A., Birkenheuer, A.J., Friedenberg, S.G., Olby, N.J., Meurs, K.M. :
A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections. J Vet Intern Med 35:1542-6, 2021. Pubmed reference: 33755251. DOI: 10.1111/jvim.16100.
2017 Miranda, I.C., Granick, J.L., ArmiƩn, A.G. :
Histologic and ultrastructural findings in dogs with chronic respiratory disease suspected of ciliary dyskinesia. Vet Pathol 54:802-812, 2017. Pubmed reference: 28494707. DOI: 10.1177/0300985817705170.
2016 Bell, E.T., Griffin, P., Martinello, P., Robinson, P. :
Primary ciliary dyskinesia in two English Cocker Spaniels. Aust Vet J 94:149-153, 2016. Pubmed reference: 27113985. DOI: 10.1111/avj.12418.
2014 Beck, J.A., Ard, M., Howerth, E.W. :
Pathology in practice. Primary ciliary dyskinesia (PCD) with associated bronchopneumonia, bronchiectasis, and hydrocephalus in a dog. J Am Vet Med Assoc 244:421-423, 2014. Pubmed reference: 24479455. DOI: 10.2460/javma.244.4.421.
2009 Leigh, M.W., Pittman, J.E., Carson, J.L., Ferkol, T.W., Dell, S.D., Davis, S.D., Knowles, M.R., Zariwala, M.A. :
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med 11:473-87, 2009. Pubmed reference: 19606528. DOI: 10.1097/GIM.0b013e3181a53562.
2008 Cavrenne, R., De Busscher, V., Bolen, G., Billen, F., Clercx, C., Snaps, F. :
Primary ciliary dyskinesia and situs inversus in a young dog. Vet Rec 163:54-5, 2008. Pubmed reference: 18621999.
2004 De Scally, M., Lobetti, RG., Van Wilpe, E. :
Primary ciliary dyskinesia in a Staffordshire bull terrier. J S Afr Vet Assoc 75:150-2, 2004. Pubmed reference: 15628808.
2002 Neil, J.A., Canapp, S.O., Cook, C.R., Lattimer, J.C. :
Kartagener's syndrome in a Dachshund dog Journal of the American Animal Hospital Association 38:45-49, 2002. Pubmed reference: 11804314.
2001 Reichler, I.M., Hoerauf, A., Guscetti, F., Gardelle, O., Stoffel, M.H., Jentsch, B., Walt, H., Arnold, S. :
Primary ciliary dyskinesia with situs inversus totalis, hydrocephalus internus and cardiac malformations in a dog. J Small Anim Pract 42:345-8, 2001. Pubmed reference: 11480901. DOI: 10.1111/j.1748-5827.2001.tb02471.x.
2000 Clercx, C., Peeters, D., Beths, T., McEntee, K., Votion, D., Snaps, F., Henroteaux, M., Jorissen, M. :
Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog Journal of the American Veterinary Medical Association 217:1681-1685, 2000. Pubmed reference: 11110460.
1999 Watson, P.J., Herrtage, M.E., Peacock, M.A., Sargan, D.R. :
Primary ciliary dyskinesia in Newfoundland dogs Veterinary Record 144:718-725, 1999. Pubmed reference: 10423815.
1998 Watson, P.J., Herrtage, M.E., Sargan, D. :
Primary ciliary dyskinesia in Newfoundland dogs Veterinary Record 143:484, 1998. Pubmed reference: 9829312.
1994 Haller, M., Guscetti, F. :
Chronic rhinosinusitis, bronchitis and situs-inversus in 2 English Cocker-Spaniel littermates - primary ciliary dyskinesia? Kleintierpraxis 39:865-868, 1994.
1992 Edwards, DF., Patton, CS., Kennedy, JR. :
Primary ciliary dyskinesia in the dog. Probl Vet Med 4:291-319, 1992. Pubmed reference: 1643316.
1991 Maddux, J.M., Edwards, D.F., Barnhill, M.A., Sanders, W.L. :
Neutrophil function in dogs with congenital ciliary dyskinesia. Veterinary Pathology 28:347-353, 1991. Pubmed reference: 1750159.
1989 Edwards, D.F., Kennedy, J.R., Toal, R.L., Maddux, J.M., Barnhill, M.A., Daniel, G.B. :
Kartageners Syndrome in a Chow Chow Dog with Normal Ciliary Ultrastructure Veterinary Pathology 26:338-340, 1989. Pubmed reference: 2788326.
Edwards, D.F., Kennedy, J.R., Patton, C.S., Toal, R.L., Daniel, G.B., Lothrop, C.D. :
Familial Immotile-Cilia Syndrome in English Springer Spaniel Dogs American Journal of Medical Genetics 33:290-298, 1989. Pubmed reference: 2801763. DOI: 10.1002/ajmg.1320330303.
1987 Killingsworth, CR., Slocombe, RF., Wilsman, NJ. :
Immotile cilia syndrome in an aged dog. J Am Vet Med Assoc 190:1567-71, 1987. Pubmed reference: 3610767.
Morrison, WB., Frank, DE., Roth, JA., Wilsman, NJ. :
Assessment of neutrophil function in dogs with primary ciliary dyskinesia. J Am Vet Med Assoc 191:425-30, 1987. Pubmed reference: 3654315.
Morrison, WB., Wilsman, NJ., Fox, LE., Farnum, CE. :
Primary ciliary dyskinesia in the dog. J Vet Intern Med 1:67-74, 1987. Pubmed reference: 3506090.
1984 Afzelius, BA., Carlsten, J., Karlsson, S. :
Clinical, pathologic, and ultrastructural features of situs inversus and immotile-cilia syndrome in a dog. J Am Vet Med Assoc 184:560-563, 1984. Pubmed reference: 6706800.
Conner, MW., Davies, P. :
Immotile ciliary syndrome in dogs. J Am Vet Med Assoc 184:624-6, 1984. Pubmed reference: 6233247.
Randolph, J.F., Castleman, W.L. :
Immotile cilia syndrome in two Old-English sheep dog littermates. J. Small Anim. Pract. 25:679-686, 1984.
1983 Edwards, DF., Patton, CS., Bemis, DA., Kennedy, JR., Selcer, BA. :
Immotile cilia syndrome in three dogs from a litter. J Am Vet Med Assoc 183:667-72, 1983. Pubmed reference: 6629977.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 05 Aug 2013
  • Changed by Imke Tammen2 on 03 Jun 2022