--- license: permission_granted topic_id: companion_breed_health_german_shorthaired_pointer_omia3146_dog category: companion-breed-health title: "German Shorthaired Pointer — Exfoliative cutaneous lupus erythematosus (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/german_shorthaired_pointer_omia3146_3146.txt date_parsed: 2026-08-02 tokens_estimated: 780 verification: method: substring_match claims: 8 passed: 8 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_german_shorthaired_pointer_omia3146_dog/01_companion_breed_health_german_shorthaired_pointer_omia3146_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: "German Shorthaired Pointer — Exfoliative cutaneous lupus erythematosus (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001609/9615/" 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
German Shorthaired Pointer — Exfoliative cutaneous lupus erythematosus (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: German Shorthaired Pointer (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Exfoliative cutaneous lupus erythematosus is characterized by scaling and crusting skin lesions that progress over the entire body. In later stages, the disease may also become systemic with the involvement of additional organs.Clin feat: This is an exfoliating skin disease, with significant scaling and crusting that begin on the face, ears and back. Scaling progresses to involve the entire body. Secondary infections are common. Lesions can be scales, crusts, pustules, papules, erythema, and/or alopecia (Wang et al., 2011, Vroom et al., 1995, Mauldin et al., 2010). Most affected dogs present before 10 months of age, but signs can begin as late as 2.75 years. Dogs that live with this condition for several years may develop lupus nephritis. Many dogs show lameness and a hunched stance due to arthralgia. Dogs can also become infertile, with low sperm counts and abnormal estrous cycles (Wang et al., 2011, Mauldin et al., 2010).Defect: yesPathology: ECLE is characterized by vacuolar degeneration of basal keratinocytes and multifocal apoptotic basal cells. Exocytosis of lymphocytes into the basal and suprabasal layers of the epidermis and a mild to moderate band-like subepidermal infiltrate composed of lymphocytes, plasma cells and few histiocytes is present (cell rich interface dermatitis). These changes may result in pigmentary incontinence and subepidermal cleft formation. Interface changes are also present in the infundibulum and the outer root sheath of the isthmus and the suprabulbar region of hair follicles. Follicles may undergo subsequent atrophy. Sebaceous glands may be infiltrated with lymphocytes and become absent multifocally. The epidermis is covered by moderate amounts of orthokeratotic laminar keratin which exfoliates (Bryden et al., 2005, Olivry et al., 2018). Mild vacuolar degeneration of basal keratinocytes may be visible in dogs as early as 6 weeks of age and will be fully developed at the age of 4 to 6 months. A generalized peripheral lymphadenomegaly has been reported in one-third of the dogs (Wang et al., 2011). Direct immunofluorescence revealed the deposition along the epidermal basement membrane of IgG in all, and IgM, IgA and C3 in a smaller percentage of the paraffin sections tested. Indirect immunofluorescence testing revealed the existence of circulating anti-follicular IgG and anti-sebaceous gland antibodies in the serum of more than 50% of the dogs (Bryden et al., 2005).Prevalence: This is a rare disease among German shorthaired pointers (Vroom et al., 1995) and related hunting dog breeds. Leeb et al. (2020) reported that The homozygous mutant genotype [i.e. homozygous for UNC93B1:c.1438A] was exclusively observed in 23 ECLE affected German Shorthaired Pointers and an ECLE affected Vizsla, but absent from 845 controls. Heterozygous carriers were found in German Shorthaired Pointers, German Longhaired Pointers, and Viszlas (Leeb et al., 2020).
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 388250234 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Leeb et al. (2020): "investigated dogs with exfoliative cutaneous lupus erythematosus (ECLE), a dog-specific form of chronic CLE that is inherited as a monogenic autosomal recessive trait. A genome-wide association study (GWAS) with 14 cases and 29 controls confirmed a previously published result [Wang et al., 2011] that the causative variant maps to chromosome 18. Autozygosity mapping refined the…
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.
- 1992. Lupoid dermatosis in a German short-haired pointer. Vet Rec — PubMed:PMID1471334 | DOI:10.1136/vr.131.21.495 — OMIA Phene_Article / Article
- 1995. Lupoid dermatosis in five german short-haired pointers. Veterinary Dermatology — OMIA Phene_Article / Article
- 2005. Clinical, histopathological and immunological characteristics of exfoliative cutaneous lupus erythematosus in 25 German short-haired pointers. Vet Dermatol — PubMed:PMID16101795 | DOI:10.1111/j.1365-3164.2005.00468.x — OMIA Phene_Article / Article
- 2010. Exfoliative cutaneous lupus erythematosus in German shorthaired pointer dogs: disease development, progression and evaluation of three immunomodulatory drugs (ciclosporin, hydroxychloroquine, and adalimumab) in a controlled environment. Vet Dermatol — PubMed:PMID20374572 | DOI:10.1111/j.1365-3164.2010.00867.x — OMIA Phene_Article / Article
- 2011. Familial cutaneous lupus erythematosus (CLE) in the German shorthaired pointer maps to CFA18, a canine orthologue to human CLE. Immunogenetics — PubMed:PMID21132284 | DOI:10.1007/s00251-010-0499-z — OMIA Phene_Article / Article
- 2017. Therapeutic effectiveness of calcineurin inhibitors in canine vesicular cutaneous lupus erythematosus. Vet Dermatol — PubMed:PMID28439997 | DOI:10.1111/vde.12448 — OMIA Phene_Article / Article
- 2018. Cutaneous lupus erythematosus in dogs: a comprehensive review. BMC Vet Res — PubMed:PMID29669547 | DOI:10.1186/s12917-018-1446-8 — OMIA Phene_Article / Article
- 2020. A missense variant affecting the C-terminal tail of UNC93B1 in dogs with exfoliative cutaneous lupus erythematosus (ECLE). Genes (Basel) — PubMed:PMID32028618 | DOI:10.3390/genes11020159 — OMIA Phene_Article / Article
- 2019. UNC93B1 recruits syntenin-1 to dampen TLR7 signalling and prevent autoimmunity. Nature — PubMed:PMID31546246 | DOI:10.1038/s41586-019-1612-6 — OMIA Phene_Article / Article
- 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article
- 2023. German Shorthaired Pointer dogs with exfoliative cutaneous lupus erythematosus develop immune-complex membranous glomerulonephropathy. Vet Pathol — PubMed:PMID37222157 | DOI:10.1177/03009858231173362 — OMIA Phene_Article / Article
- 2024. Canine exfoliative cutaneous lupus erythematosus in two mixed breed littermates. Vet Dermatol — PubMed:PMID39344864 | DOI:10.1111/vde.13301 — 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:608204 (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."