Airedale Terrier — Fatal neonatal interstitial lung disease (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_airedale_terrier_fatal_neonatal_interstitial_lung_disease_dog category: companion-breed-health title: "Airedale Terrier — Fatal neonatal interstitial lung disease (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/airedale_terrier_fatal_neonatal_interstitial_lung_disease_4309.txt date_parsed: 2026-08-02 tokens_estimated: 422 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_airedale_terrier_fatal_neonatal_interstitial_lung_disease_dog/01_companion_breed_health_airedale_terrier_fatal_neonatal_interstitial_lung_disease_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: "Airedale Terrier — Fatal neonatal interstitial lung disease (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002251/9615/" 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

Airedale Terrier — Fatal neonatal interstitial lung disease (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: Airedale Terrier (Dog)
• Disorder: Fatal neonatal interstitial lung disease
• Mode of inheritance: Autosomal recessive lethal
• Clin feat: Dillard et al. (2020): All 25 affected puppies were born at term with normal delivery. One was stillborn. Six (24%) were lethargic at birth, refused to suckle and developed dyspnea or tachypnea and died or were humanely euthanized at 4–18 hours later. The rest of the puppies (72%) were initially normal until the difficulties in breathing started. Most of these puppies died during one to four days (64%), except one puppy that survived for 7 days and one up to 4 weeks. Full necropsy was performed for the 25 puppies and the main lesion was in the lungs. The lungs of all the puppies, except the 4-week-old, were edematous, congested and appeared poorly aerated . . . . At four weeks the lungs had a rubbery texture and marked emphysema . . . . No significant macroscopic changes were detected in other organs.
• Defect: yes
• Prevalence: Dillard et al. (2020) genotyped the LAMP3 likely causal variant in 371 affected and control AT dogs and found that . . . [the variant] fully segregated with the disease under recessive model (25/371 homozygous mutant, 77/371 heterozygous carrier, 269/371 homozygous wild type) . . . . In this cohort, the carrier frequency was 20.6%. . . . Finally, to investigate the breed specificity of the LAMP3 variant, we screened additional 6940 dogs from 297 breeds, including eight Airedale Terriers . . . . Only one heterozygous dog, an Airedale Terrier, was identified, which indicates that the LAMP3 variant is specific to the 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 388302982 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Dillard et al. (2020): "A combined approach of genome-wide association study and whole exome sequencing identified a recessive variant, c.1159G>A, p.(E387K), in LAMP3, a limiting membrane protein of the cytoplasmic surfactant organelles in AECII [alveolar epithelial type II] cells".

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.

• 2020. Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs. PLoS Genet — PubMed:PMID32150563 | DOI:10.1371/journal.pgen.1008651 — 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:605883 (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."