Dog (Canis lupus familiaris) — Mucopolysaccharidosis I (hereditary; OMIA-verified species predisposition)

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

Claims

Species: Dog (Canis lupus familiaris)
Disorder: Mucopolysaccharidosis I
Summary: The mucopolysaccharidoses (MPS) are a group of hereditary diseases characterized by defective metabolism of glycosaminoglycans (mucopolysaccharides), which accumulate in lysosomes in various tissues.
Prevalence: Mansour et al. (2020): The likely insertion causal variant "was not detected in 120 unrelated Boston Terriers as well as 202 dogs from other breeds".

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.

Gene: Entrez Gene ID 4479646 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene

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.

1989. Long-Term Effects of Bone Marrow Transplantation in Dogs with Mucopolysaccharidosis 1. American Journal of Pathology — PubMed:PMID2493739 — OMIA Phene_Article / Article
1989. Corneal Opacity in Canine MPS-I - Changes After Bone Marrow Transplantation. Investigative Ophthalmology & Visual Science — PubMed:PMID2503461 — OMIA Phene_Article / Article
1990. Cardiovascular Changes After Bone Marrow Transplantation in Dogs with Mucopolysaccharidosis-I. American Journal of Veterinary Research — PubMed:PMID2150744 — OMIA Phene_Article / Article
1992. Cloning and Characterization of cDNA Encoding Canine alpha-L- Iduronidase - Messenger RNA Deficiency in Mucopolysaccharidosis-I Dog. J Biol Chem — PubMed:PMID1551868 — OMIA Phene_Article / Article
1992. Architecture of the Canine IDUA Gene and Mutation Underlying Canine Mucopolysaccharidosis-I. Genomics — PubMed:PMID1339393 — OMIA Phene_Article / Article
1994. Enzyme replacement in a canine model of Hurler syndrome. Proceedings of the National Academy of Sciences of the United States of America — PubMed:PMID7809150 — OMIA Phene_Article / Article
1996. Canine models for gene therapy. Transfusion Science — OMIA Phene_Article / Article
1996. Humoral immune response limits gene therapy in canine MPS I. Blood — PubMed:PMID8704199 — OMIA Phene_Article / Article
1996. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis. Biochemical & Molecular Medicine — OMIA Phene_Article / Article
1996. Myoblast gene therapy in canine mucopolysaccharidosis i - abrogation by an immune response to alpha-l-iduronidase. Human Gene Therapy — PubMed:PMID8864760 | DOI:10.1089/hum.1996.7.13-1595 — OMIA Phene_Article / Article
1998. Noncirrhotic portal hypertension and nodular regenerative hyperplasia of the liver in dogs with mucopolysaccharidosis type I. Hepatology — PubMed:PMID9696001 | DOI:10.1002/hep.510280214 — OMIA Phene_Article / Article
1999. Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency. Blood — PubMed:PMID10068662 — OMIA Phene_Article / Article
(38 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:607014 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:607015 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:607016 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
OMIM:252800 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

Dog (Canis lupus familiaris) — Mucopolysaccharidosis I (hereditary; OMIA-verified species predisposition)