--- license: permission_granted topic_id: companion_breed_health_petit_brabancon_isolated_growth_hormone_deficiency_dog category: companion-breed-health title: "Petit Brabancon — isolated growth hormone deficiency (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/petit_brabancon_isolated_growth_hormone_deficiency_4393.txt date_parsed: 2026-08-02 tokens_estimated: 265 verification: method: substring_match claims: 4 passed: 4 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_petit_brabancon_isolated_growth_hormone_deficiency_dog/01_companion_breed_health_petit_brabancon_isolated_growth_hormone_deficiency_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: "Petit Brabancon — isolated growth hormone deficiency (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001473/9615/" 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
Petit Brabancon — isolated growth hormone deficiency (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: Petit Brabancon (Dog)Disorder: isolated growth hormone deficiencyClin feat: Iio et al. (2020) :A 6-mo-old female Chihuahua was presented with recurrent episodes of hypoglycemia and collapse. Physical examination revealed proportionate dwarfism, retained puppy hair coat, retained deciduous teeth, and open fontanelles. Routine blood tests revealed hypoglycemia, thrombocytosis, hypoproteinemia, and elevated alkaline phosphatase activity. The urinalysis, radiographs, and ultrasonographs were unremarkable. Endocrine testing revealed that insulin-like growth factor 1 was below the detection limit; concentrations of total thyroxine, baseline cortisol, and cortisol stimulated by tetracosactide acetate were within their reference intervals. The pituitary gland showed no organic abnormalities on magnetic resonance imaging. For definitive diagnosis, we conducted the stimulation test for growth hormone (GH) release and diagnosed isolated GH deficiency.Defect: yes
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: GH (Entrez Gene ID 388199274) — OMIA Phene_Gene / GeneSynonym
- OMIA molecular-genetics note: Iio et al. (2020) identified a likely causal variant, namely "a homozygous in-frame 6-bp deletion (c.573_578del) that resulted in 1 amino acid substitution (K165N) and 2 amino acid deletions (K166del and D167del) in exon 5 of GH1"
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. Isolated growth hormone deficiency in a Chihuahua with a GH1 mutation. J Vet Diagn Invest — PubMed:PMID32646299 | DOI:10.1177/1040638720938671 — OMIA Phene_Article / Article
- 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — 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:262400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:139250 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:612781 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:173100 (type: trait) — 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."