Czechoslovakian Wolfdog — Dwarfism, pituitary, LHX3-related; pituitary dwarfism (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_czechoslovakian_wolfdog_dwarfism_pituitary_lhx3_related_pituitary_dwarfism_dog category: companion-breed-health title: "Czechoslovakian Wolfdog — Dwarfism, pituitary, LHX3-related; pituitary dwarfism (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/czechoslovakian_wolfdog_dwarfism_pituitary_lhx3_related_pituitary_dwarfism_4464.txt date_parsed: 2026-08-02 tokens_estimated: 497 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_czechoslovakian_wolfdog_dwarfism_pituitary_lhx3_related_pituitary_dwarfism_dog/01_companion_breed_health_czechoslovakian_wolfdog_dwarfism_pituitary_lhx3_related_pituitary_dwarfism_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: "Czechoslovakian Wolfdog — Dwarfism, pituitary, LHX3-related; pituitary dwarfism (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002314/9615/" 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

Czechoslovakian Wolfdog — Dwarfism, pituitary, LHX3-related; pituitary dwarfism (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: Czechoslovakian Wolfdog (Dog)
• Disorder: Dwarfism, pituitary, LHX3-related; pituitary dwarfism
• Mode of inheritance: Autosomal recessive
• Summary: see also a href=../../../../../../OMIA000307/9615/OMIA:000307-9615 /aDwarfism, pituitary, generic and a href=../../../../../../OMIA002315/9615/OMIA:002315-9615/a : Dwarfism, pituitary, POU1F1-related in Canis lupus familiaris
• Clin feat: Dogs with homozygous LXH3 defects experience deficiency in pituitary hormone production, including GH, TSH and reproductive hormones (Voorbji et al., 2011). As a result of the primary insufficiency in GH, IGF levels are low in affected dogs compared to healthy dogs, leading to marked growth retardation with proportional dwarfism (Eigenmann et al., 1984; Voorbij and Kooistra, 2009). The affected puppies have normal growth during the first weeks, but the growth rate markedly slows down (Voorbij, Leegwater and Kooistra, 2014; Voorbij and Kooistra, 2009). Other characteristic clinical features include bilateral symmetrical alopecia mostly at the trunk, neck and proximal extremities, retention of secondary hair coat and lack of guard hairs (Voorbij and Kooistra, 2009). Concurrent problems such as hyperpigmentation, pyoderma, and scales may also occur (Voorbij and Kooistra, 2009). Some dogs develop neurological signs due to anatomical abnormalities in the atlanto-axial joint (Voorbij et al., 2015). IT thanks DVM student Riley Lin, who provided the basis of this contribution in May 2023.
• Defect: yes
• Prevalence: Voorbij et al. (2011) reported that Seven dogs from a group of 37 unrelated GSD from the Dutch population with normal growth were carrier of the 7 bp deletion [omia.variant:363] (allele frequency = 0.094). Voorbij et al. (2014) reported that The frequency of carriers of this mutation among clinically healthy Saarloos and Czechoslovakian wolfdogs used for breeding was 31% and 21%, respectively.

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 388303261 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Of the 137 genes annotated in the candidate region on CFA9 (see Mapping section above), only one was a likely candidate, namely "LHX3, a transcription factor essential for pituitary gland formation" (Voorbij et al., 2011). Sequencing revealed a causative variant (omia.variant:362) as "a deletion of one of six 7 bp repeats in intron 5 of LHX3, reducing the intron size to 68 bp . . . An exon trappin…

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.

• 1979. Pituitary dwarfism. Vet Clin North Am Small Anim Pract — PubMed:PMID462708 | DOI:10.1016/s0195-5616(79)50004-7 — OMIA Phene_Article / Article
• 2012. Genome-wide association studies for multiple diseases of the German Shepherd Dog. Mamm Genome — PubMed:PMID22105877 | DOI:10.1007/s00335-011-9376-9 — OMIA Phene_Article / Article
• 2010. [Hypopituitarism associated dwarfism in German Shepherds, saarloos wolf dogs and Czechoslovakian wolf dogs. Access to genetic testing]. Tijdschr Diergeneeskd — PubMed:PMID21287722 — OMIA Phene_Article / Article
• 2011. A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs. PLoS One — PubMed:PMID22132174 | DOI:10.1371/journal.pone.0027940 — OMIA Phene_Article / Article
• 2009. Pituitary dwarfism in German Shepherd dogs. JCVS — OMIA Phene_Article / Article
• 2014. Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med — PubMed:PMID25273400 | DOI:10.1111/jvim.12448 — OMIA Phene_Article / Article
• 2015. Atlanto-axial malformation and instability in dogs with pituitary dwarfism due to an LHX3 mutation. J Vet Intern Med — PubMed:PMID25586673 | DOI:10.1111/jvim.12523 — OMIA Phene_Article / Article
• 2021. Dwarfism in Tibetan Terrier dogs with an LHX3 mutation. J Vet Diagn Invest — PubMed:PMID33890524 | DOI:10.1177/10406387211007526 — OMIA Phene_Article / Article
• 1984. Growth hormone and insulin-like growth factor I in German shepherd dwarf dogs. Acta Endocrinol (Copenh) — PubMed:PMID6322493 | DOI:10.1530/acta.0.1050289 — OMIA Phene_Article / Article
• 2021. Wellbeing, quality of life, presence of concurrent diseases, and survival times in untreated and treated German Shepherd dogs with dwarfism. PLoS One — PubMed:PMID34370756 | DOI:10.1371/journal.pone.0255678 — OMIA Phene_Article / Article
• 2024. A nonsynonymous substitution of Lhx3 leads to changes in body size in dogs and mice. Genes (Basel) — PubMed:PMID38927675 | DOI:10.3390/genes15060739 — OMIA Phene_Article / Article
• 2025. Pituitary dwarfism and adrenocorticotropic hormone deficiency in a White Swiss Shepherd dog with LHX3 mutation. J Vet Intern Med — PubMed:PMID40833232 | DOI:10.1111/jvim.70193 — 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:600577 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:221750 (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."