{"topic_id":"companion_breed_health_munchkin_omia4946_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_munchkin_omia4946_cat\ncategory: companion-breed-health\ntitle: \"Munchkin — Chondrodysplasia, UGDH-related (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/munchkin_omia4946_4946.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 452\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_munchkin_omia4946_cat/01_companion_breed_health_munchkin_omia4946_cat.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Munchkin — Chondrodysplasia, UGDH-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002541/9685/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Munchkin — Chondrodysplasia, UGDH-related (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Munchkin (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal dominant + recessive lethal`\n- `Clin feat: Struck et al. (2020): CT of the forelimbs of the 4-year old standard Munchkin tomcat showed a shortening of ​​all distal und proximal long bones including humerus, radius, ulna and metacarpalia (Fig. 2 and Additional file 2). Lengths of the humerus, radius, ulna, metacarpalia, femur and tibia of the standard Munchkin cat were reduced by 71, 58, 64, 84, 74, and 70%, respectively, in comparison to the domestic cat. Metatarsalia had normal length. All bones of the front and hind limbs exhibited higher average diaphyseal diameters, in particular humerus (+ 14%) and femur (+ 29%). Furthermore, the humerus showed a slight internal rotation along its longitudinal axis, resulting in a moderate incongruity in the elbow joint with axial deviation. The humerus compacta in the middle segment revealed a moderate degree of thickening of 2.4 mm (0.09 in). Furthermore, the radius was too short in relation to the ulna, as well as the ulna was slightly medially rotated, whereas the radius was bent to a high degree in the longitudinal axis of about 43°. This resulted in an incongruity in the ulnocarpal and radiocarpal joint. The hind limbs did not show any rotation and structural effects.`\n- `Defect: yes`\n- `Prevalence: Buckley et al. (2020): PCR-based genotyping of the 3.3 kb deletion breakpoints was conducted in a total of 109 cats including, 41 normal and 68 affected dwarf cats (S9 Fig). Expected amplicon sizes and phenotypes were concordant across all cats, except for a “Munchkin; non-standard (normal legs); Selkirk mix”, which appeared to carry the mutant allele, suggesting an alternate causal gene or sampling error (S8 Data).`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 389715737 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Struck et al. (2020): \"Structural variant analysis with LUMPY software revealed one variant on FCA B1 harbouring a heterozygous deletion of 3303 bp in all three standard Munchkin cats but homozygous wild type in the non-standard Munchkin kitten and all 16 controls [omia.variant:1228]. The 3303 bp deletion was located within UDP-glucose 6-dehydrogenase (UGDH) at 173,294,289-173,297,592 bp (Felis ca…\n\n## Evidence (references)\nDerived 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.\n- 2020. A structural UGDH variant associated with standard Munchkin cats. BMC Genet — PubMed:PMID32605545 | DOI:10.1186/s12863-020-00875-x — OMIA Phene_Article / Article\n- 2020. A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism. PLoS Genet — PubMed:PMID33090996 | DOI:10.1371/journal.pgen.1008926 — OMIA Phene_Article / Article\n- 2020. Precision medicine in cats-The right biomedical model may not be the mouse!. PLoS Genet — PubMed:PMID33290388 | DOI:10.1371/journal.pgen.1009177 — OMIA Phene_Article / Article\n- 2021. A domestic cat whole exome sequencing resource for trait discovery. Sci Rep — PubMed:PMID33785770 | DOI:10.1038/s41598-021-86200-7 — OMIA Phene_Article / Article\n- 2021. Skeletal manifestations of heritable disproportionate dwarfism in cats as determined by radiography and magnetic resonance imaging. Vet Comp Orthop Traumatol — PubMed:PMID34082456 | DOI:10.1055/s-0041-1730355 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:603370 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Munchkin — Chondrodysplasia, UGDH-related (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Munchkin — Chondrodysplasia, UGDH-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/32605545/","retrieved":"","ref":"PMID 32605545","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":1011,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}