American Bulldog — autosomal recessive congenital ichthyosis (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_american_bulldog_autosomal_recessive_congenital_ichthyosis_dog category: companion-breed-health title: "American Bulldog — autosomal recessive congenital ichthyosis (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/american_bulldog_autosomal_recessive_congenital_ichthyosis_3804.txt date_parsed: 2026-08-02 tokens_estimated: 339 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_american_bulldog_autosomal_recessive_congenital_ichthyosis_dog/01_companion_breed_health_american_bulldog_autosomal_recessive_congenital_ichthyosis_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: "American Bulldog — autosomal recessive congenital ichthyosis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001980/9615/" 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

American Bulldog — autosomal recessive congenital ichthyosis (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: American Bulldog (Dog)
• Disorder: autosomal recessive congenital ichthyosis
• Mode of inheritance: Autosomal recessive
• Clin feat: The gross phenotype was manifest as a disheveled pelage shortly after birth, generalized scaling, and adherent brown scale with erythema of the abdominal skin (Mauldin et al. 2015).
• Defect: yes
• Pathology: Affected dogs exhibited diffuse laminated to compact orthokeratotic hyperkeratosis with hypergranulosis and mild acanthosis. The epidermis had a prominent granular layer, and multifocal granular layer keratinocytes displayed a perinuclear clear space. Malassezia could be found within the corneal layer in at least one sample in approximately 60% of cases. The yeast were typically present without an inflammatory response. Ultrastructurally, the epidermis showed discontinuous lipid bilayers, unprocessed lipid within corneocytes, and abnormal lamellar bodies (Mauldin et al. 2015).
• Prevalence: As reported by Casal et al. (2017), Obligate carriers were confirmed to be heterozygous for this variant, and 150 clinically non-affected dogs of other breeds were homozygous for the wild-type gene. Among 800 American bulldogs tested, 34% of clinically healthy dogs were discovered to be heterozygous for the defective allele.

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 388253928 (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.

• 2013. Canine ichthyosis and related disorders of cornification. Vet Clin North Am Small Anim Pract — PubMed:PMID23182326 | DOI:10.1016/j.cvsm.2012.09.005 — OMIA Phene_Article / Article
• 2015. Autosomal recessive congenital ichthyosis in American bulldogs is associated with NIPAL4 (ICHTHYIN) deficiency. Vet Pathol — PubMed:PMID25322746 | DOI:10.1177/0300985814551425 — OMIA Phene_Article / Article
• 2017. A defect in NIPAL4 is associated with autosomal recessive congenital ichthyosis in American bulldogs. PLoS One — PubMed:PMID28122049 | DOI:10.1371/journal.pone.0170708 — OMIA Phene_Article / Article
• 2019. NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy. Vet Med Sci — PubMed:PMID30741495 | DOI:10.1002/vms3.149 — OMIA Phene_Article / Article
• 2021. Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol — PubMed:PMID34796560 | DOI:10.1111/vde.13033 — 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:612281 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:609383 (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."