--- license: permission_granted topic_id: companion_breed_health_swedish_lapphund_omia726_dog category: companion-breed-health title: "Swedish Lapphund — Glycogen storage disease II (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/swedish_lapphund_omia726_726.txt date_parsed: 2026-08-02 tokens_estimated: 621 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_swedish_lapphund_omia726_dog/01_companion_breed_health_swedish_lapphund_omia726_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: "Swedish Lapphund — Glycogen storage disease II (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000419/9615/" 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
Swedish Lapphund — Glycogen storage disease II (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: Swedish Lapphund (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin feat: Affected dogs exhibit regurgitation and recurrent vomiting of mucus. Constant panting, dyspnoea, dysphonia, and dysphagia are evident at 13 months (Seppälä et al., 2013). Loss of condition, progressive muscular weakness, and exercise intolerance may become apparent (Almodóvar-Payá et al., 2020). Glycogen storage disease II (GSD II) in dogs may lead to decreases in ALP, and increases in ALAT, BUN, and glucose levels (Walvoort et al., 1984). Biochemical studies demonstrated a severe deficiency of acid α-glucosidase activity in heart, skeletal muscle, and liver fibroblasts. Glycogen content was substantially elevated in the heart and skeletal muscle (Walvoort et al., 1982). Haematology shows increases in monocyte count and increases in mean platelet volume at 18 months (Seppälä et al., 2013). Radiographs of affected dogs show dilatation of the oesophagus and cardiac enlargement; ultrasound indicates liver changes (Seppälä et al., 2013). GSD II is often associated with clinical heart disease and myocardial hypertrophy (Walvoort et al., 1984). [IT thanks DVM student Jed Stevens, who provided the basis of this contribution in April 2022]Defect: yesPathology: Acid α-glucosidase is responsible for the degradation of glycogen to glucose in lysosomes. Dogs with GSD II are significantly deficient in active acid α-glucosidase, leading to the accumulation of glycogen inside lysosomes of the heart, skeletal muscle, and smooth muscle (Almodóvar-Payá et al., 2020). This excessive glycogen storage may lead to progressive muscular weakness, cardiac hypertrophy, cardio-respiratory failure, and death (Walvoort et al.,1985; Seppälä et al., 2013). A finding unique to GSD II in dogs is the megaoesophagus and its associated symptoms of regurgitation and vomiting (Seppälä et al., 2013). [IT thanks DVM student Jed Stevens, who provided the basis of this contribution in April 2022]Prevalence: Seppälä et al. (2013) screened 95 Finnish Lapphunds, 99 Lapponian Herders and 34 Swedish Lapphunds for the c.2237GA; p.W746* causal mutation, observing 5%, 2% and zero carriers, respectively. This mutation was not present in 304 dogs from 21 other breeds. The same authors state that they identified carriers from Lapponian Herders although no affected cases have been reported in this breed.
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 388249964 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Adopting the comparative candidate-gene approach (based on similarity of diagnostic signs with humans), Seppälä et al. (2013) sequenced the canine GAA gene (encoding acid α-glucosidase) in "two affected Finnish Lapphunds, their dam and an unrelated healthy 8-year-old Finnish Lapphund as control", revealing a causal nonsense mutation: a "c.2237G>A mutation leading to a premature stop codon at amino…
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.
- 1970. A case of glycogenic cardiomegaly in a dog. Acta Vet Scand — PubMed:PMID5270856 | DOI:10.1186/BF03547980 — OMIA Phene_Article / Article
- 1993. Molecular biology, therapeutic trials and animal models of lysosomal storage diseases - Type-II glycogenosis as an example. Annales de Biologie Clinique — OMIA Phene_Article / Article
- 1985. Glycogen storage disease type II in the Lapland dog. Vet Q — PubMed:PMID3901497 — OMIA Phene_Article / Article
- 1985. Heterozygote detection in a family of Lapland dogs with a recessively inherited metabolic disease: canine glycogen storage disease type II. Res Vet Sci — PubMed:PMID3923581 — OMIA Phene_Article / Article
- 1985. Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease). J Inherit Metab Dis — PubMed:PMID3921759 — OMIA Phene_Article / Article
- 1984. Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid alpha-glucosidase deficiency). Am J Med Genet — PubMed:PMID6391168 | DOI:10.1002/ajmg.1320190323 — OMIA Phene_Article / Article
- 1983. Glycogen storage diseases in animals and their potential value as models of human disease. J Inherit Metab Dis — PubMed:PMID6408305 — OMIA Phene_Article / Article
- 1982. Canine glycogen storage disease type II. A biochemical study of an acid alpha-glucosidase-deficient Lapland dog. Biochim Biophys Acta — PubMed:PMID7041988 — OMIA Phene_Article / Article
- 2013. A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds. PLoS One — PubMed:PMID23457621 | DOI:10.1371/journal.pone.0056825 — OMIA Phene_Article / Article
- 2020. Preclinical research in glycogen storage diseases: A comprehensive review of current animal models. Int J Mol Sci — PubMed:PMID33348688 | DOI:10.3390/ijms21249621 — OMIA Phene_Article / Article
- 2015. Large animal models and new therapies for glycogen storage disease. J Inherit Metab Dis — PubMed:PMID25224826 | DOI:10.1007/s10545-014-9766-8 — OMIA Phene_Article / Article
- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — OMIA Phene_Article / Article
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:232300 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:606800 (type: gene) — 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."