OMIA:000361-9783 : Factor VII deficiency in Elephas maximus (Asiatic elephant) |
In other species: dog
Categories: Haematopoietic system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 227500 (trait) , 613878 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2017
Cross-species summary: Bleeding disorder due to deficiency of factor VII, a vitamin K–dependent glycoprotein. In humans also called Alexander's disease; proconvertin deficiency; prothrombin conversion accelerator deficiency; hypoproconvertinaemia.
Molecular basis: By sequencing the most likely candidate gene (based on a prolonged prothrombin time in the presence of a normal partial thromboplastin time) in a single Asian elephant, Lynch et al. (2017) identified the likely causal mutation as "a single homozygous point mutation (c.202A.G) in the F7 gene of the FVII deficient elephant that was not present in unrelated elephants. This mutation causes an amino acid substitution (p.Arg68Gly) that is predicted to be deleterious."
Clinical features: As reported by Lynch et al. (2017), "Consistent with FVII deficiency investigations in other species, the condition did not cause a serious bleeding tendency in this individual elephant".
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| F7 | Elephas maximus | 23 | NC_064841.1 (79464247..79491446) | F7 | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 148 | Factor VII deficiency | F7 | missense | Naturally occurring variant | c.202A>G | p.(R68G) | 2017 | 28118558 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2017). OMIA:000361-9783: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2017 | Lynch, M., McGrath, K., Raj, K., McLaren, P., Payne, K., McCoy, R., Giger, U., Lynch, M., McGrath, K., Raj, K., McLaren, P., Payne, K., McCoy, R., Giger, U. : |
| Hereditary factor VII deficiency in the Asian elephant (Elephas maximus) caused by a F7 missense mutation. J Wildl Dis 53:248-257, 2017. Pubmed reference: 28118558. DOI: 10.7589/2016-05-113. |
Edit History
- Created by Frank Nicholas on 26 Jan 2017
- Changed by Frank Nicholas on 26 Jan 2017