Warmblood (Horse) — Incontinentia pigmenti (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: Warmblood (Horse)Disorder: Incontinentia pigmentiMode of inheritance: X-linked incomplete dominantSummary: Incontinentia pigmenti (IP) is an ectodermal dysplasia characterized by skin lesions evolving over time, as well as dental, nail, and ocular abnormalities. Due to X-linked dominant inheritance IP symptoms can only be seen in female individuals while affected males die during development in utero.Clin feat: Affected mares develop pruritic, exudative lesions soon after birth. These evolve into wart-like lesions and areas of alopecia. Occasionally, hair re-growth with a wooly appearance is observed. Affected horses also have streaks of darker and lighter coat coloration from birth resembling the brindled coat color. The cutaneous manifestations follow the lines of Blaschko. Other clinical symptoms include anomalies of tooth, hoof and ocular development (Towers et al. 2013).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 388948485 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: After having established the X-chromosomal inheritance the genome of an affected crossbred mare was re-sequenced at 19x coverage (Towers et al. 2013). The analysis of the sequence data yielded 557 non-synonymous variants on the X-chromosome with respect to the genome reference sequence of an unaffected Thoroughbred mare. Exclusion of variants that were also present in the genome sequences of 44 co…
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.
- 2013. A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti. PLoS One — PubMed:PMID24324710 | DOI:10.1371/journal.pone.0081625 — OMIA Phene_Article / Article
- 2000. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature — PubMed:PMID10839543 | DOI:10.1038/35013114 — OMIA Phene_Article / Article
- 2024. Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep — PubMed:PMID38600096 | DOI:10.1038/s41598-024-57872-8 — 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:308300 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:300248 (type: gene) — OMIA Group_OMIM (via OMIA_ID)