{"topic_id":"companion_breed_health_domestic_shorthair_omia1252_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_domestic_shorthair_omia1252_cat\ncategory: companion-breed-health\ntitle: \"Domestic Shorthair — Mucopolysaccharidosis I (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/domestic_shorthair_omia1252_1252.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 687\nverification:\n  method: substring_match\n  claims: 10\n  passed: 10\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_domestic_shorthair_omia1252_cat/01_companion_breed_health_domestic_shorthair_omia1252_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: \"Domestic Shorthair — Mucopolysaccharidosis I (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000664/9685/\"\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# Domestic Shorthair — Mucopolysaccharidosis I (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: Domestic Shorthair (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease characterized by intracellular accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfates. Affected cats have flat, broad faces, large heads, small ears, thick skin over the dorsal neck, wide cervical vertebrae, and hip subluxation. Other signs include abnormal gait, corneal clouding and some have a cardiac murmur of mitral insufficiency. The mode of inheritance is autosomal recessive, and the causative mutation is a 3 base-pair deletion in the IUDA gene. Affected cats are deficient in the lysosomal enzyme alpha-L-iduronidase, which is a part of the breakdown pathway of glycosaminoglycans. Since affected cats cannot adequately break down the GAGs, they accumulate in multiple cell types and cause clinical signs. There is a test available to detect the mutation. Siblings of affected cats should be tested. Breeding of affected or carrier cats should be avoided. Edited by Mark Haskins, VMD, PhD`\n- `Clin feat: Affected cats have flat, broad faces, large heads, small ears, thick skin over the dorsal neck, wide cervical vertebrae, and hip subluxation. Other signs include abnormal gait, corneal clouding and some have a cardiac murmur of mitral insufficiency. Fine metachromatic granules occur in lymphocytes. GAGs are detectable in urine by a simple alcian-blue spot test (Haskins et al., 1979, Haskins et al., 1983).`\n- `Defect: yes`\n- `Pathology: Affected cats are deficient in the lysosomal enzyme alpha-L-iduronidase, which is a part of the breakdown pathway of glycosaminoglycans. It is a hydrolase that removes iduronic acid residues from dermatan sulfate and heparan sulfate. Since affected cats cannot adequately break down the GAGs, they accumulate in multiple cell types and cause clinical signs (He et al., 1999). Thickened cardiac valves and cordae tendinae, and cerebral ventricle dilatation are observable on necropsy, along with a wide cervical spine (Haskins et al., 1979). Membrane-bound cytoplasmic inclusions aggregate in hepatocytes, Kupffer cells, fibroblasts, cartilage, cornea, retinal pigment epithelial cells, neurons, and white blood cells. These cells can appear to have vacuolated cytoplasm on histologic examination (Haskins et al., 1979). On examination by electron microscopy, brain and spinal cord neurons contain membrane-bound “zebra bodies” (He et al., 1999).`\n- `Prevalence: Southeastern Pennsylvania`\n- `Control: Siblings of affected cats should be tested. Breeding of affected or carrier cats should be avoided.`\n- `Gen test: There is a test available to detect the mutation.`\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 199226049 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), He et al. (1999) showed that the causative mutation is a 3 bp deletion in the IDUA gene (omia.variant:500), which results in removal of an aspartate residue from the finished polypeptide.\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- 1979. Alpha-L- iduronidase deficiency in a cat: a model of mucopolysaccharidosis I. Pediatric Research — PubMed:PMID117422 — OMIA Phene_Article / Article\n- 1992. Hepatic storage of glycosaminoglycans in feline and canine models of mucopolysaccharidoses I, VI, and VII. Vet Pathol — PubMed:PMID1632054 | DOI:10.1177/030098589202900203 — OMIA Phene_Article / Article\n- 1999. Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Molecular Genetics and Metabolism — PubMed:PMID10356309 | DOI:10.1006/mgme.1999.2860 — OMIA Phene_Article / Article\n- 2001. Enzyme replacement therapy in feline mucopolysaccharidosis I. Molecular Genetics &amp; Metabolism — PubMed:PMID11243725 | DOI:10.1006/mgme.2000.3140 — OMIA Phene_Article / Article\n- 2008. Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VI. J Inherit Metab Dis — PubMed:PMID18509743 | DOI:10.1007/s10545-008-0821-1 — OMIA Phene_Article / Article\n- 2008. Altered olfactory epithelial structure and function in feline models of mucopolysaccharidoses I and VI. J Comp Neurol — PubMed:PMID18803239 | DOI:10.1002/cne.21847 — OMIA Phene_Article / Article\n- 2007. Bone marrow transplantation for feline mucopolysaccharidosis I. Mol Genet Metab — PubMed:PMID3145485 — OMIA Phene_Article / Article\n- 1983. The pathology of the feline model of mucopolysaccharidosis I. Am J Pathol — PubMed:PMID6407329 — OMIA Phene_Article / Article\n- 2011. Renal failure associated with mucopolysaccharidosis type I in a cat from a MPS I research colony. Comp Med — PubMed:PMID22330352 — OMIA Phene_Article / Article\n- 2012. Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats. Vet Clin Pathol — PubMed:PMID23121383 | DOI:10.1111/j.1939-165x.2012.00485.x — OMIA Phene_Article / Article\n- 2011. Biodistribution and pharmacodynamics of recombinant human alpha-L-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations. Mol Genet Metab — PubMed:PMID21482164 | DOI:10.1016/j.ymgme.2011.03.011 — OMIA Phene_Article / Article\n- 2014. Liver-directed gene therapy corrects cardiovascular lesions in feline mucopolysaccharidosis type I. Proc Natl Acad Sci U S A — PubMed:PMID25267637 | DOI:10.1073/pnas.1413645111 — OMIA Phene_Article / Article\n- (5 additional references in OMIA)\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:607014 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:607015 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:607016 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:252800 (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 — Domestic Shorthair — Mucopolysaccharidosis I (hereditary; OMIA-verified breed predisposition) (retrieved 2026-08-22)"],"source":{"authority":"companion-breed-health","title":"Domestic Shorthair — Mucopolysaccharidosis I (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/117422/","retrieved":"2026-08-22","ref":"PMID 117422","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":1101,"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."}