Maltese — Persistent Müllerian Duct Syndrome (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_maltese_persistent_m_llerian_duct_syndrome_dog category: companion-breed-health title: "Maltese — Persistent Müllerian Duct Syndrome (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/maltese_persistent_m_llerian_duct_syndrome_1432.txt date_parsed: 2026-08-02 tokens_estimated: 107 verification: method: substring_match claims: 4 passed: 4 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_maltese_persistent_m_llerian_duct_syndrome_dog/01_companion_breed_health_maltese_persistent_m_llerian_duct_syndrome_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Maltese — Persistent Müllerian Duct Syndrome (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000791/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Maltese — Persistent Müllerian Duct Syndrome (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: Maltese (Dog)
• Disorder: Persistent Müllerian Duct Syndrome
• Summary: Information related to persistent Mullerian duct syndrome due to AMHR2 variants previously listed here has been moved to a href=../../../../../../OMIA002775/9615/OMIA:002775-9615/a Persistent Mullerian Duct Syndrome, AMHR2-related [20/09/2023].
• Defect: yes

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIA entry symbol: PMDS (no structured Phene_Gene link)

Causal variant(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Variant: allele pt; chromosome X; nt change T>A; pathogenicity class 1; gene PLP — OMIA Variant / Variant_Phene

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 1976. Male pseudohermaphroditism, cryptorchism, and Sertoli cell neoplasia in three miniature Schnauzers. J Am Vet Med Assoc — PubMed:PMID10267 — OMIA Phene_Article / Article
• 1989. Mullerian Inhibiting Substance Is Present in Testes of Dogs with Persistent Mullerian Duct Syndrome. Biology of Reproduction — PubMed:PMID2576223 — OMIA Phene_Article / Article
• 1992. Persistent Mullerian Duct Syndrome in the Basset Hound. Tijdschrift Voor Diergeneeskunde — OMIA Phene_Article / Article
• 1993. Mullerian Inhibiting Substance Is Present in Embryonic Testes of Dogs with Persistent Mullerian Duct Syndrome. Biology of Reproduction — PubMed:PMID8318594 — OMIA Phene_Article / Article
• 1993. Genetics of sexual differentiation and anomalies in dogs and cats. J Reprod Fertil Suppl — PubMed:PMID8229960 — OMIA Phene_Article / Article
• 1996. The persistant Mullerian duct syndrome - a hereditary type of male pseudohermaphroditism in a Bassethound [German]. Kleintierpraxis — OMIA Phene_Article / Article
• 2004. Persistent Mullerian duct syndrome causing male pseudohermaphroditism in a mixed-breed dog. Vet Rec — PubMed:PMID15499815 — OMIA Phene_Article / Article
• 2009. 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 — PubMed:PMID18723470 | DOI:10.2164/jandrol.108.005736 — OMIA Phene_Article / Article
• 2009. 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 — PubMed:PMID19097712 | DOI:10.1016/j.anireprosci.2008.11.008 — OMIA Phene_Article / Article
• 1982. Persistent Mullerian duct syndrome in miniature schnauzers. J Am Vet Med Assoc — PubMed:PMID7141975 — OMIA Phene_Article / Article
• 2009. A molecular diagnostic test for persistent Müllerian duct syndrome in miniature schnauzer dogs. Sex Dev — PubMed:PMID20051676 | DOI:10.1159/000273264 — OMIA Phene_Article / Article
• 2009. Review and update: genomic and molecular advances in sex determination and differentiation in small animals. Reprod Domest Anim — PubMed:PMID19754534 | DOI:10.1111/j.1439-0531.2009.01433.x — OMIA Phene_Article / Article
• (13 additional references in OMIA)

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:261550 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."