OMIA:000791-9615 : Persistent Mullerian duct syndrome, generic in Canis lupus familiaris (dog) |
In other species: domestic cat , goat
Categories: Reproductive system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 261550 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: unknown
Disease-related: yes
Cross-species summary: This is a type of XY difference of sexual development (XY DSD). The condition is characterized by the persistence of Müllerian derivatives (uterus and/or fallopian tubes) in otherwise normally virilized males (modified from [Orphanet:2856]).
Species-specific name: Persistent Müllerian Duct Syndrome
Species-specific symbol: PMDS
Species-specific description: Information related to persistent Mullerian duct syndrome due to AMHR2 variants previously listed here has been moved to OMIA:002775-9615 Persistent Mullerian Duct Syndrome, AMHR2-related [20/09/2023].
Breeds:
Basset Hound (Dog) (VBO_0200126),
Belgian Shepherd Dog, Malinois (Dog) (VBO_0200147),
Cocker Spaniel (Dog) (VBO_0200372),
German Shepherd Dog (Dog) (VBO_0200577),
Maltese (Dog) (VBO_0200856),
Yorkshire Terrier (Dog) (VBO_0201448).
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:000791-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2023 | Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. : |
| Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7. | |
| Szabo, Z., Moser, J., Vincenti, S. : | |
| Persistent mullerian duct syndrome in a dog. Schweiz Arch Tierheilkd 165:189-0, 2023. Pubmed reference: 36852872. DOI: 10.17236/sat00389. | |
| Welsh, P.J., McDaniel, K., Goldsmith, E.W., Ramsay, J.D., Conley, A., Owen, T.J., Ambrosini, Y.M., Ciccarelli, M. : | |
| Case report: Persistent Müllerian duct syndrome and enlarged prostatic utricle in a male dog. Front Vet Sci 10:1185621, 2023. Pubmed reference: 37470070. DOI: 10.3389/fvets.2023.1185621. | |
| 2021 | Cinti, F., Sainato, D., Charlesworth, T. : |
| A case of persistent Mullerian duct syndrome in a dog. J Small Anim Pract 62:311, 2021. Pubmed reference: 33034383. DOI: 10.1111/jsap.13225. | |
| 2019 | Nogueira, D.M., Armada, J.L.A., Penedo, D.M., Tannouz, V.G.S., Meyers-Wallen, V.N. : |
| Persistent Mullerian duct Syndrome in a Brazilian miniature schnauzer dog. An Acad Bras Cienc 91:e20180752, 2019. Pubmed reference: 31241703. DOI: 10.1590/0001-3765201920180752. | |
| 2018 | De Lorenzi, L., Arrighi, S., Groppetti, D., Bonacina, S., Parma, P. : |
| Persistent Müllerian duct syndrome in a German shepherd dog. Sex Dev 12:288-294, 2018. Pubmed reference: 30086548. DOI: 10.1159/000492037. | |
| Smit, M.M., Ekenstedt, K.J., Minor, K.M., Lim, C.K., Leegwater, P., Furrow, E. : | |
| Prevalence of the AMHR2 mutation in Miniature Schnauzers and genetic investigation of a Belgian Malinois with persistent Müllerian duct syndrome. Reprod Domest Anim 53:371-376, 2018. Pubmed reference: 29194807. DOI: 10.1111/rda.13116. | |
| 2017 | Park, E.J., Lee, S.H., Jo, Y.K., Hahn, S.E., Go, D.M., Lee, S.H., Lee, B.C., Jang, G. : |
| Coincidence of Persistent Müllerian duct syndrome and testicular tumors in dogs. BMC Vet Res 13:156, 2017. Pubmed reference: 28576146. DOI: 10.1186/s12917-017-1068-6. | |
| 2012 | Meyers-Wallen, V.N. : |
| Gonadal and sex differentiation abnormalities of dogs and cats. Sex Dev 6:46-60, 2012. Pubmed reference: 22005097. DOI: 10.1159/000332740. | |
| 2011 | Breshears, M.A., Peters, J.L. : |
| Ambiguous genitalia in a fertile, unilaterally cryptorchid male miniature schnauzer dog. Vet Pathol 48:1038-40, 2011. Pubmed reference: 21248100. DOI: 10.1177/0300985810396104. | |
| 2010 | Vegter, A.R., Kooistra, H.S., van Sluijs, F.J., van Bruggen, L.W., Ijzer, J., Zijlstra, C., Okkens, A.C. : |
| Persistent Mullerian duct syndrome in a Miniature Schnauzer dog with signs of feminization and a Sertoli cell tumour. Reprod Domest Anim 45:447-52, 2010. Pubmed reference: 18954385. DOI: 10.1111/j.1439-0531.2008.01223.x. | |
| 2009 | Matsuu, A., Hashizume, T., Kanda, T., Nagano, M., Sugiyama, A., Okamoto, Y., Hikasa, Y. : |
| A case of persistent Müllerian duct syndrome with sertoli cell tumor and hydrometra in a dog J Vet Med Sci 71:379-81, 2009. Pubmed reference: 19346713. | |
| Meyers-Wallen, VN. : | |
| Review and update: genomic and molecular advances in sex determination and differentiation in small animals. Reprod Domest Anim 44 Suppl 2:40-6, 2009. Pubmed reference: 19754534. DOI: 10.1111/j.1439-0531.2009.01433.x. | |
| Pujar, S., Meyers-Wallen, VN. : | |
| A molecular diagnostic test for persistent Müllerian duct syndrome in miniature schnauzer dogs. Sex Dev 3:326-8, 2009. Pubmed reference: 20051676. DOI: 10.1159/000273264. | |
| Whyte, A., Monteagudo, L.V., Díaz-Otero, A., Lebrero, M.E., Tejedor, M.T., Falceto, M.V., Whyte, J., Gallego, M. : | |
| Malformations of the epididymis, incomplete regression of the mesonephric tubules and hyperplasia of Leydig cells in canine persistence of Müllerian duct syndrome. Anim Reprod Sci 115:328-33, 2009. Pubmed reference: 19097712. DOI: 10.1016/j.anireprosci.2008.11.008. | |
| Wu, X., Wan, S., Pujar, S., Haskins, ME., Schlafer, DH., Lee, MM., Meyers-Wallen, VN. : | |
| A single base pair mutation encoding a premature stop codon in the MIS type II receptor is responsible for canine persistent Mullerian duct syndrome. J Androl 30:46-56, 2009. Pubmed reference: 18723470. DOI: 10.2164/jandrol.108.005736. | |
| 2004 | Kuiper, H., Distl, O. : |
| [Intersexuality in dogs: causes and genetics] Dtsch Tierarztl Wochenschr 111:251-8, 2004. Pubmed reference: 15287579. | |
| Kuiper, H., Wagner, F., Drögemüller, C., Distl, O. : | |
| Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. Vet Rec 155:400-1, 2004. Pubmed reference: 15499815. | |
| 1996 | Jonen, H., Nickel, R.F. : |
| The persistant Mullerian duct syndrome - a hereditary type of male pseudohermaphroditism in a Bassethound [German] Kleintierpraxis 41:911 ff., 1996. | |
| 1993 | Meyers-Wallen, V.N., Lee, M.M., Manganaro, T.F., Kuroda, T., Maclaughlin, D., Donahoe, P.K. : |
| Mullerian Inhibiting Substance Is Present in Embryonic Testes of Dogs with Persistent Mullerian Duct Syndrome Biology of Reproduction 48:1410-1418, 1993. Pubmed reference: 8318594. | |
| Meyers-Wallen, V.N. : | |
| Genetics of sexual differentiation and anomalies in dogs and cats. J Reprod Fertil Suppl 47:441-52, 1993. Pubmed reference: 8229960. | |
| 1992 | Nickel, R.F., Ubbink, G., Vandergaag, I., Vansluijs, F.J. : |
| Persistent Mullerian Duct Syndrome in the Basset Hound Tijdschrift Voor Diergeneeskunde 117:S31, 1992. | |
| 1989 | Meyers-Wallen, V.N., Donahoe, P.K., Ueno, S., Manganaro, T.F., Patterson, D.F. : |
| Mullerian Inhibiting Substance Is Present in Testes of Dogs with Persistent Mullerian Duct Syndrome Biology of Reproduction 41:881-888, 1989. Pubmed reference: 2576223. | |
| 1982 | Marshall, LS., Oehlert, ML., Haskins, ME., Selden, JR., Patterson, DF. : |
| Persistent Mullerian duct syndrome in miniature schnauzers. J Am Vet Med Assoc 181:798-801, 1982. Pubmed reference: 7141975. | |
| 1976 | Brown, T.T., Burek, J.D., McEntee, K. : |
| Male pseudohermaphroditism, cryptorchism, and Sertoli cell neoplasia in three miniature Schnauzers. J Am Vet Med Assoc 169:821-5, 1976. Pubmed reference: 10267. |
Edit History
- Created by Frank Nicholas on 09 Sep 2008
- Changed by Vicki Meyers-Wallen on 11 Aug 2011
- Changed by Frank Nicholas on 11 Aug 2011
- Changed by Martha MaloneyHuss on 03 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 10 Sep 2019
- Changed by Frank Nicholas on 02 Nov 2020
- Changed by Imke Tammen2 on 28 Aug 2021
- Changed by Imke Tammen2 on 05 Feb 2022
- Changed by Imke Tammen2 on 28 Sep 2023
- Changed by Imke Tammen2 on 14 Jun 2024