{"topic_id":"companion_breed_health_akhal_teke_horse_omia4008_horse","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_akhal_teke_horse_omia4008_horse\ncategory: companion-breed-health\ntitle: \"Akhal-Teke (Horse) — Naked foal syndrome (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-23 from local OMIA database dump.\"\nsource_file: pdf-raw/breed-health/akhal_teke_horse_omia4008_4008.txt\ndate_parsed: 2026-08-23\ntokens_estimated: 399\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-23\nrecovered: false\npath: companion-breed-health/companion_breed_health_akhal_teke_horse_omia4008_horse/01_companion_breed_health_akhal_teke_horse_omia4008_horse.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Akhal-Teke (Horse) — Naked foal syndrome (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002096/9796/\"\n  retrieved: \"2026-08-23\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"---\n\n# Akhal-Teke (Horse) — Naked foal syndrome (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Akhal-Teke (Horse)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Bauer et al. (2017): Affected horses had almost no hair and showed a mild ichthyosis. So far, all known NFS affected horses died between a few weeks and 3 years of age. It is not clear whether a specific pathology caused the premature deaths. Bauer et al. (2017) noted similarities to ST14 defects in other species: “Taken together, the ST14 gene has essential roles in the interfollicular epidermis by contributing to epidermal barrier formation as well as for hair follicle development. The observed phenotype in NFS-affected horses resembles the group of heterogeneous phenotypes caused by ST14 variants in humans and mice. However, in horses with NFS, the degree of alopecia is more severe than in human patients, whereas the ichthyosis is less pronounced, and suggested mainly by the clinical picture.” (FN thanks Emily Rogers, who provided all but the first sentence of this entry, working under the supervision of Professor Ernie Bailey; 24 April 2020)`\n- `Defect: yes`\n- `Prevalence: The variant c.388GT was homozygous in 5 affected horses and heterozygous in 10 obligate carriers. Testing of 191 other Akhal-Teke horses identified 165 homozygous for the reference sequence and 26 heterozygous for c.388GT. This variant was not found among 400 horses of other breeds. (Bauer et al., 2017) (FN thanks Emily Rogers, who provided this contribution, working under the supervision of Professor Ernie Bailey; 24 April 2020)`\n## Associated gene(s)\nDerived 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.\n- Gene: Entrez Gene ID 388959675 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Bauer et al. (2017): \"Whole genome sequencing of two affected horses, two obligate carriers, and 75 control horses from other breeds revealed a single non-synonymous genetic variant on the chromosome 7 segment that was perfectly associated with NFS. The affected horses were homozygous for ST14:c.388G>T, a nonsense variant that truncates more than 80% of the open reading frame of the ST14 gene (p.G…\n\n## Evidence (references)\nDerived 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.\n- 2011. Myosin heavy chain pattern in the Akhal-Teke horses. Animal — PubMed:PMID22439988 | DOI:10.1017/S1751731110002375 — OMIA Phene_Article / Article\n- 2006. The Stavropol Sphynx. Akhal-Teke Inform. — OMIA Phene_Article / Article\n- 2007. Again about sphynxes. Akhal-Teke Inform. — OMIA Phene_Article / Article\n- 2017. A nonsense variant in the ST14 gene in Akhal-Teke horses with naked foal syndrome. G3 (Bethesda) — PubMed:PMID28235824 | DOI:10.1534/g3.117.039511 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:602400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:606797 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n","sources":["companion-breed-health — Akhal-Teke (Horse) — Naked foal syndrome (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Akhal-Teke (Horse) — Naked foal syndrome (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/22439988/","retrieved":"","ref":"PMID 22439988","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":898,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}