OMIA 000307-9615 : Dwarfism, pituitary, generic in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
221750 (trait)
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 140:1553-62, 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