{"topic_id":"companion_breed_health_persian_omia1199_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_persian_omia1199_cat\ncategory: companion-breed-health\ntitle: \"Persian — Mannosidosis, alpha (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/persian_omia1199_1199.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 602\nverification:\n  method: substring_match\n  claims: 8\n  passed: 8\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_persian_omia1199_cat/01_companion_breed_health_persian_omia1199_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: \"Persian — Mannosidosis, alpha (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA000625/9685/\"\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# Persian — Mannosidosis, alpha (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: Persian (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: Alpha-mannosidosis is a lysosomal storage disease characterized by accumulation of mannose-rich oligosaccharides in lysosomes. Clinical signs include neurological deficits, skeletal deformities, growth retardation, gingival hyperplasia, and corneal and lenticular opacities. Affected cats are deficient in the lysosomal hydrolase alpha-mannosidase, which is necessary for the degradation of glycoproteins. In the absence of sufficient alpha-mannosidase, mannose-rich oligosaccharides accumulate intracellularly. Upon histopathologic examination, vacuolated neurons, glial cells, and endothelial cells are present throughout the central nervous system. The mode of inheritance is autosomal recessive. The causative mutation is a 4 base pair deletion in the gene coding for lysosomal alpha-mannosidase. There is a test available to detect the mutation. Siblings of affected cats should be tested. Breeding of affected or carrier cats is not recommended. Edited by Mark Haskins, VMD, PhD`\n- `Clin feat: Cats with alpha-mannosidosis have severe neurological deficits, tremors, loss of balance, nystagmus, hearing loss, synovitis, dorsoventral narrowing of the palpebral fissure, hydrocephalus, skeletal deformities, growth retardation, gingival hyperplasia, and corneal and lenticular opacities. Without treatment, life expectancy is about six months (Abkowitz et al., 2009, Vite et al., 2001). Urinary oligosaccarides can be detected by thin-layer chromatography.`\n- `Defect: yes`\n- `Pathology: Affected cats are deficient in the lysosomal hydrolase alpha-mannosidase, which is necessary for the degradation of glycoproteins. In the absence of sufficient alpha-mannosidase, mannose-rich oligosaccharides accumulate intracellularly. Upon histopathologic examination, vacuolated neurons, glial cells, and endothelial cells are present throughout the central nervous system. The centrum semiovale and the cerebellar white matter appear to be deficient in myelin. There are fewer Purkinje cells and granular neurons than normal in the cerebellum (Vite et al., 2001).`\n- `Control: Animals related to affected cats should be DNA tested to identify carriers. Breeding decissions should be informed by DNA testing results to reduce risk of affected animals been born in the future.`\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: MANB (Entrez Gene ID 493697) — OMIA Phene_Gene / GeneSynonym\n- OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Berg et al. (1997) identified a causative variant as a 4-base-pair deletion in the gene coding for lysosomal alpha-mannosidase, resulting in \"a frame shift from codon 583 and premature termination at codon 645\" (omia.variant:499). This variant is specific to Persian cats and was not found i…\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- 1989. Morphology of leukocytes from cats affected with alpha-mannosidosis and mucopolysaccharidosis-VI (MPS-VI). Vet Pathol — PubMed:PMID2503918 | DOI:10.1177/030098588902600402 — OMIA Phene_Article / Article\n- 1991. The substrate specificity of bovine and feline lysosomal  alpha-D-mannosidases in relation to alpha-mannosidosis. J Biol Chem — PubMed:PMID1885586 — OMIA Phene_Article / Article\n- 1991. Different oligosaccharides accumulate in the brain and urine of a cat with alpha-mannosidosis - Structure determination of  five brain-derived and seventeen urinary oligosaccharides. Glycoconj J — PubMed:PMID1668528 | DOI:10.1007/BF00731639 — OMIA Phene_Article / Article\n- 1992. Substrate specificity of the bovine and feline neutral alpha-mannosidases. Biochem J — PubMed:PMID1520284 | DOI:10.1042/bj2860055 — OMIA Phene_Article / Article\n- 1997. Purification of feline lysosomal alpha-mannosidase, determination of its cdna sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. Biochemical Journal — PubMed:PMID9396732 — OMIA Phene_Article / Article\n- 1999. Retrovirus vector-mediated correction and cross-correction of lysosomal alpha-mannosidase deficiency in human and feline fibroblasts. Human Gene Therapy — PubMed:PMID10365662 | DOI:10.1089/10430349950017996 — OMIA Phene_Article / Article\n- 2009. In utero transplantation of monocytic cells in cats with alpha-mannosidosis. Transplantation — PubMed:PMID19667933 | DOI:10.1097/TP.0b013e3181b0d264 — OMIA Phene_Article / Article\n- 2001. Histopathology, electrodiagnostic testing, and magnetic resonance imaging show significant peripheral and central nervous system myelin abnormalities in the cat model of alpha-mannosidosis. J Neuropathol Exp Neurol — PubMed:PMID11487056 — OMIA Phene_Article / Article\n- 2009. A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation. BMC Genomics — PubMed:PMID19958498 | DOI:10.1186/1471-2164-10-S3-S33 — OMIA Phene_Article / Article\n- 2010. Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats. NMR Biomed — PubMed:PMID19743435 | DOI:10.1002/nbm.1430 — OMIA Phene_Article / Article\n- 2008. Apparent diffusion coefficient reveals gray and white matter disease, and T2 mapping detects white matter disease in the brain in feline alpha-mannosidosis. AJNR Am J Neuroradiol — PubMed:PMID17974615 | DOI:10.3174/ajnr.A0791 — OMIA Phene_Article / Article\n- 1982. Hereditary neurovisceral mannosidosis associated with alpha-mannosidase deficiency in a family of Persian cats. Acta Neuropathol — PubMed:PMID7136518 — OMIA Phene_Article / Article\n- (21 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:248500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:609458 (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 — Persian — Mannosidosis, alpha (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Persian — Mannosidosis, alpha (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/2503918/","retrieved":"","ref":"PMID 2503918","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":1346,"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."}