German Longhaired Pointer — Thyroid follicular cell carcinoma, predisposition to (hereditary; OMIA-verified breed predisposition)

German Longhaired Pointer — Thyroid follicular cell carcinoma, predisposition to (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 Longhaired Pointer (Dog)
• Disorder:
• Mode of inheritance: Probably autosomal recessive
• Summary: Yu et al. (2021) described familial thyroid follicular cell carcinomas in Dutch German longhaired pointers (GLPs). Yu et al. (2021) investigated the genetic causes of the disease using a combined approach of genome-wide association study and runs of homozygosity (ROH) analysis based on 170k SNP array genotype data and whole-genome sequences.
• Clin feat: Yu et al. (2021): The age of diagnosis ranged between 4.5 and 13.5 years, and 76% of cases were diagnosed before 10 years of age, implying an early onset of disease.
• 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: Entrez Gene ID 403521 (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.

• 2021. Deleterious mutations in the TPO gene associated with familial thyroid follicular cell carcinoma in Dutch German longhaired pointers. Genes (Basel) — PubMed:PMID34209805 | DOI:10.3390/genes12070997 — OMIA Phene_Article / Article
• 2022. Familial follicular cell thyroid carcinomas in a large number of Dutch German longhaired pointers. Vet Comp Oncol — PubMed:PMID34464021 | DOI:10.1111/vco.12769 — OMIA Phene_Article / Article
• 2022. A recurrent somatic missense mutation in GNAS gene identified in familial thyroid follicular cell carcinomas in German longhaired pointer dogs. BMC Genomics — PubMed:PMID36151521 | DOI:10.1186/s12864-022-08885-y — OMIA Phene_Article / Article
• 2025. Comparative genomic and clinicopathological analysis uncovers contrasting molecular profiles of canine and human thyroid carcinomas. Commun Biol — PubMed:PMID41353477 | DOI:10.1038/s42003-025-09225-y — 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:606765 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:603386 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:188550 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:605642 (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."