OMIA 000307-9615 : Dwarfism, pituitary, generic in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 221750

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Species-specific description: see also OMIA 002315-9615 : Dwarfism, pituitary, POU1F1-related in Canis lupus familiaris and OMIA 002314-9615 : Dwarfism, pituitary, LHX3-related in Canis lupus familiaris

Breeds: Czechoslovakian wolfdog, German Shepherd Dog, Karelian bear dog, Saarloo.

Associated genes:

Symbol Description Species Chr Location OMIA gene details page Other Links
POU1F1 POU class 1 homeobox 1 Canis lupus familiaris 31 NC_051835.1 (752910..771826) POU1F1 Homologene, Ensembl, NCBI gene
LHX3 LIM homeobox 3 Canis lupus familiaris 9 NC_051813.1 (50125225..50131690) LHX3 Homologene, Ensembl, NCBI gene

References


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.
2021 Kyöstilä, K., Niskanen, J.E., Arumilli, M., Donner, J., Hytönen, M.K., Lohi, H. :
Intronic variant in POU1F1 associated with canine pituitary dwarfism. Hum Genet :, 2021. Pubmed reference: 33550451. DOI: 10.1007/s00439-021-02259-2.
2015 Voorbij, A.M., Meij, B.P., van Bruggen, L.W., Grinwis, G.C., Stassen, Q.E., Kooistra, H.S. :
Atlanto-axial malformation and instability in dogs with pituitary dwarfism due to an LHX3 mutation. J Vet Intern Med 29:207-13, 2015. Pubmed reference: 25586673. DOI: 10.1111/jvim.12523.
2014 Voorbij, A.M., Leegwater, P.A., Kooistra, H.S. :
Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med 28:1770-4, 2014. Pubmed reference: 25273400. DOI: 10.1111/jvim.12448.
2012 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 Voorbij, A.M., van Steenbeek, F.G., Vos-Loohuis, M., Martens, E.E., Hanson-Nilsson, J.M., van Oost, B.A., Kooistra, H.S., Leegwater, P.A. :
A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs. PLoS One 6:e27940, 2011. Pubmed reference: 22132174. DOI: 10.1371/journal.pone.0027940.
2010 Voorbij, A.M., Leegwater, P.A., Kooistra, H.S. :
[Hypopituitarism associated dwarfism in German Shepherds, saarloos wolf dogs and Czechoslovakian wolf dogs. Access to genetic testing]. Tijdschr Diergeneeskd 135:950-4, 2010. Pubmed reference: 21287722.
2009 Voorbij, A.M.W.Y., Kooistra, H.S. :
Pituitary Dwarfism in German Shepherd Dogs JCVS 2:4-11, 2009.
2006 Bhatti, SF., De Vliegher, SP., Mol, JA., Van Ham, LM., Kooistra, HS. :
Ghrelin-stimulation test in the diagnosis of canine pituitary dwarfism. Res Vet Sci 81:24-30, 2006. Pubmed reference: 16271735. DOI: 10.1016/j.rvsc.2005.09.009.
Hanson, JM., Mol, JA., Leegwater, PA., Kooistra, HS., Meij, BP. :
The leukemia inhibitory factor receptor gene is not involved in the etiology of pituitary dwarfism in German shepherd dogs. Res Vet Sci 81:316-20, 2006. Pubmed reference: 16624355. DOI: 10.1016/j.rvsc.2006.03.001.
2002 Knottenbelt, C.M., Herrtage, M.E. :
Use of proligestone in the management of three German shepherd dogs with pituitary dwarfism Journal of Small Animal Practice 43:164-170, 2002. Pubmed reference: 11996393.
van Oost, B.A., Versteeg, S.A., Imholz, S., Kooistra, H.S. :
Exclusion of the lim homeodomain gene LHX4 as a candidate gene for pituitary dwarfism in German shepherd dogs Molecular & Cellular Endocrinology 197:57-62, 2002. Pubmed reference: 12431796.
2000 Everts, R.E., Hazewinkel, H.A.W., Rothuizen, J., van, Oost, B.A. :
Bone disorders in the dog: A review of modern genetic strategies to find the underlying causes [Review] Veterinary Quarterly 22:63-70, 2000. Pubmed reference: 10789512.
Kooistra, H.S., Voorhout, G., Mol, J.A., Rijnberk, A. :
Combined pituitary hormone deficiency in german shepherd dogs with dwarfism. Domest Anim Endocrinol 19:177-90, 2000. Pubmed reference: 11064220.
Lantinga-van, Leeuwen, I.S., Kooistra, H.S., Mol, J.A., Renier, C., Breen, M., van, Oost, B.A. :
Cloning, characterization, and physical mapping of the canine Prop-1 gene (PROP1): exclusion as a candidate for combined pituitary hormone deficiency in German shepherd dogs Cytogenetics & Cell Genetics 88:140-144, 2000.
Leeuwen, I.S.L., Mol, J.A., Kooistra, H.S., Rijnberk, A., Breen, M., Renier, C., van, Oost, B.A. :
Cloning of the canine gene encoding transcription factor Pit-1 and its exclusion as candidate gene in a canine model of pituitary dwarfism Mammalian Genome 11:31-36, 2000. Pubmed reference: 10602989.
1999 Hamann, F., Kooistra, H.S., Mol, J.A., Gottschalk, S., Bartels, T., Rijnberk, A. :
Pituitary function and morphology in two German shepherd dogs with congenital dwarfism Veterinary Record 144:644-646, 1999. Pubmed reference: 10399248.
1998 Kooistra, H.S., Voorhout, G., Selman, P.J., Rijnberk, A. :
Progestin-induced growth hormone (gh) production in the treatment of dogs with congenital gh deficiency Domestic Animal Endocrinology 15:93-102, 1998. Pubmed reference: 9532423.
1997 Ramsey, I.K., Evans, H., Herrtage, M.E. :
Thyroid-stimulating hormone and total thyroxine concentrations in euthyroid, sick euthyroid and hypothyroid dogs Journal of Small Animal Practice 38:540-545, 1997. Pubmed reference: 9444634.
1993 Rijnberk, A., Vanherpen, H., Mol, J.A., Rutteman, G.R. :
Disturbed Release of Growth Hormone in Mature Dogs - A Comparison with Congenital Growth Hormone Deficiency Veterinary Record 133:542-545, 1993. Pubmed reference: 8116157.
1991 Greco, D.S., Feldman, E.C., Peterson, M.E., Turner, J.L., Hodges, C.M., Shipman, L.W. :
Congenital Hypothyroid Dwarfism in a Family of Giant Schnauzers Journal of Veterinary Internal Medicine 5:57-65, 1991. Pubmed reference: 2061865.
1990 Randolph, J.F., Miller, C.L., Cummings, J.F., Lothrop, C.D. :
Delayed Growth in 2 German Shepherd Dog Littermates with Normal Serum Concentrations of Growth Hormone, Thyroxine, and Cortisol Journal of the American Veterinary Medical Association 196:77-83, 1990. Pubmed reference: 2295557.
1985 Greco, D.S., Peterson, M.E., Cho, D.Y., Markovits, J.E. :
Juvenile-onset hypothyroidism in a dog. J Am Vet Med Assoc 187:948-50, 1985. Pubmed reference: 4055523.
1981 Eigenmann, J.E. :
Diagnosis and treatment of dwarfism in a German Shepherd dog Journal of the American Animal Hospital Association 17:798-804, 1981.
1980 Müller-Peddinghaus, R., El Etreby, M.F., Siefert, J., Ranke, M. :
[Pituitary dwarfism in a German shepherd dog (author's transl)]. Vet Pathol 17:406-21, 1980. Pubmed reference: 6247812.
1979 Muller, GH. :
Pituitary dwarfism. Vet Clin North Am Small Anim Pract 9:41-8, 1979. Pubmed reference: 462708.
1978 Allan, G.S., Huxtable, C.R.R., Howlett, C.R., Baxter, R.C., Duff, B., Farrow, B.R.H. :
Pituitary dwarfism in German Shepherd dogs Journal of Small Animal Practice 19:711-727, 1978. Pubmed reference: 723236.
Andresen, E. :
Origin and distribution of pituitary dwarfism in the dog and a basis for detecting carriers of various genetic diseases using biochemical methods Kleintierpraxis 23:65-74, 1978.
Cassel, S.E. :
Ovarian imbalance in a German Shepherd dwarf. Vet Med Small Anim Clin 73:162-3, 1978. Pubmed reference: 245902.
Nicholas, F.W. :
Pituitary dwarfism in German Shepherd dogs: a genetic analysis of some Australian data Journal of Small Animal Practice 19:167-174, 1978. Pubmed reference: 642476.
1977 Andresen, E., Willeberg, P. :
Pituitary dwarfism in Carelian bear-dogs: evidence of simple, autosomal recessive inheritance. Hereditas 84:232-4, 1977. Pubmed reference: 838602.
1976 Andresen, E., Willeberg, P. :
Pituitary dwarfism in German Shepherd dogs : additional evidence of simple, autosomal recessive inheritance Nordisk Veterinaermedicin 28:481-486, 1976. Pubmed reference: 980693.
Andresen, E., Willeberg, P., Riis, P.M. :
Somatomedin levels in dogs with pituitary dwarfism Hereditas 84:239 only, 1976.
1975 Andresen, E., Willeberg, P., Rasmussen, P.G. :
Hereditary pituitary dwarfism in German Shepherd dogs Hunden. Medlemsblad Dansk Kennel Klub 85:112-114, 1975.
Willeberg, P., Kastrup, K.W., Anderson, E. :
Pituitary dwarfism in German Shepherd dogs: studies on somatomedin activity Nordisk Veterinaermedicin 27:448-454, 1975. Pubmed reference: 1178442.
1974 Andresen, E., Willeberg, P., Rusmussen, P.G. :
Pituitary dwarfism in German Shepherd dogs : genetic investigations Nordisk Veterinaermedicin 26:692-701, 1974. Pubmed reference: 4449724.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 27 Nov 2011
  • Changed by Frank Nicholas on 19 Sep 2012
  • Changed by Frank Nicholas on 20 May 2013
  • Changed by Frank Nicholas on 30 Jan 2014
  • Changed by Frank Nicholas on 20 Apr 2016
  • Changed by Imke Tammen2 on 05 Mar 2021