OMIA:001501-9796 : Dilute coat color with neurological defects in Equus caballus (horse)

In other species: dog

Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 214450 (trait) , 160777 (gene)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2010

Cross-species summary: The phene is very similar to human Griscelli syndrome, type 1 (GS1).

Species-specific name: Lavender Foal Syndrome, Coat Color Dilution Lethal

Species-specific symbol: LFS

Molecular basis: Brooks et al. (2010) identified a deletion in the MYO5A gene as being responsible for this disorder in Arabian horses. This gene has the interim symbol of LOC100069548.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Brooks et al. (2010): "Affected foals can display an array of neurological signs including tetanic-like seizures, opisthotonus, stiff or paddling leg movements and nystagmus ... [Fanelli, 2005]. Mild leucopenia is sometimes observed [Fanelli, 2005; Page et al., 2006]. These neurologic impairments prevent the foal from standing and nursing normally and, if not lethal on their own, are often cause for euthanasia. In addition to these abnormalities, affected foals possess a characteristic diluted “lavender” coat color. This resulting coat color, variously described as pale gray, pewter, and light chestnut, as well as lavender, has coined the name “Lavender Foal Syndrome” (LFS) [Fanelli, 2005]."

Breed: Arab (Horse) (VBO_0000905).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MYO5A myosin VA Equus caballus 1 NC_009144.3 (139130790..139313816) MYO5A Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
510 Arab (Horse) Lavender foal syndrome MYO5A deletion, small (<=20) Naturally occurring variant EquCab3.0 1 g.139290592del c.4249del p.(R1417Afs*13) XM_023617258.1; XP_023473026.1; published as g.138235715delC; coordinates in the table have been updated to a recent reference genome 2010 20419149 The genomic position in EquCab3.0 was provided by Gracie Zinsmeister, working under the guidance of Professor Ernie Bailey in April 2022

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001501-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 AbouEl Ela, N.H., El Araby, I.E., Saleh, A.A., Abd El-Fattah, A.H., Hagag, N.M., Brooks, S.A., Radwan, M.A., Kalbfleisch, T. :
Evidence for origin of lavender foal syndrome among Egyptian Arabian horses in Egypt. Equine Vet J 55:487-493, 2023. Pubmed reference: 35665534. DOI: 10.1111/evj.13604.
2021 Ayad, A., Almarzook, S., Besseboua, O., Aissanou, S., Piórkowska, K., Musiał, A.D., Stefaniuk-Szmukier, M., Ropka-Molik, K. :
Investigation of cerebellar abiotrophy (CA), Lavender Foal Syndrome (LFS), and severe combined immunodeficiency (SCID) variants in a cohort of three MENA region horse breeds. Genes (Basel) 12:1893, 2021. Pubmed reference: 34946842. DOI: 10.3390/genes12121893.
2019 Bugno-Poniewierska, M., Stefaniuk-Szmukier, M., Piestrzyńska-Kajtoch, A.P., Fornal, A., Piórkowska, K., Ropka-Molik, K. :
Genetic screening for cerebellar abiotrophy, severe combined immunodeficiency and lavender foal syndrome in Arabian horses in Poland. Vet J 248:71-73, 2019. Pubmed reference: 31113566. DOI: 10.1016/j.tvjl.2019.04.012.
2014 Tarr, C.J., Thompson, P.N., Guthrie, A.J., Harper, C.K. :
The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. Equine Vet J 46:512-4, 2014. Pubmed reference: 24033554. DOI: 10.1111/evj.12177.
2012 Gabreski, N.A., Haase, B., Armstrong, C.D., Distl, O., Brooks, S.A. :
Investigation of allele frequencies for Lavender foal syndrome in the horse. Anim Genet 43:650, 2012. Pubmed reference: 22497275. DOI: 10.1111/j.1365-2052.2011.02305.x.
2010 Bellone, RR. :
Pleiotropic effects of pigmentation genes in horses. Anim Genet 41 Suppl 2:100-10, 2010. Pubmed reference: 21070283. DOI: 10.1111/j.1365-2052.2010.02116.x.
Brooks, SA., Gabreski, N., Miller, D., Brisbin, A., Brown, HE., Streeter, C., Mezey, J., Cook, D., Antczak, DF. :
Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome. PLoS Genet 6:e1000909, 2010. Pubmed reference: 20419149. DOI: 10.1371/journal.pgen.1000909.
2006 Page, P., Parker, R., Harper, C., Guthrie, A., Neser, J. :
Clinical, clinicopathologic, postmortem examination findings and familial history of 3 Arabians with lavender foal syndrome. J Vet Intern Med 20:1491-4, 2006. Pubmed reference: 17186871.
2005 Fanelli, H.H. :
Coat colour dilution lethal ("lavender foal syndrome"): a tetany syndrome of Arabian foals Equine Veterinary Education 17:260-263, 2005.

Edit History

  • Created by Frank Nicholas on 12 Sep 2010
  • Changed by Frank Nicholas on 11 Sep 2011
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Tosso Leeb on 15 Sep 2021
  • Changed by Imke Tammen2 on 12 Jan 2022
  • Changed by Imke Tammen2 on 25 Apr 2022
  • Changed by Imke Tammen2 on 13 Jan 2023