OMIA:000543-9685 : Hypohidrotic ectodermal dysplasia, X-linked, EDA-related in Felis catus (domestic cat) |
In other species: dog , taurine cattle , central bearded dragon
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 305100 (trait) , 300451 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: X-linked
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Cross-species summary:
Ectodermal dysplasias are disorders that affect two or more organs of ectodermal origin, such as hair follicles, teeth, sweat glands, or nails. EDA-related ectodermal dysplasias have X-linked inheritance and affected animals present with hypo/adontia, hypotrichosis, and a lack of many eccrine glands. Altered tear composition may result in keratoconjunctivitis sicca and reduced or absent airway mucus production may predispose to chronic respiratory infections.
Phene has been renamed in OMIA from 'Anhidrotic ectodermal dysplasia, EDA-related' to 'Hypohidrotic ectodermal dysplasia, X-linked, EDA-related' [29/07/2024]
Molecular basis: Rietmann et al. (2024): "Whole-genome sequencing [of an affected domestic shorthair male cat] revealed a hemizygous missense variant in the EDA gene, XM_011291781.3:c.1042G>A or XP_011290083.1:p.(Ala348Thr). The predicted amino acid exchange is located in the C-terminal TNF signaling domain of the encoded ectodysplasin. The corresponding missense variant in the human EDA gene, p.Ala349Thr, has been reported as a recurring pathogenic variant in several human patients with X-linked hypohidrotic ectodermal dysplasia."
Clinical features: Rietmann et al. (2024) "investigated a male [domestic shorthair] cat exhibiting diffuse truncal alopecia with a completely absent undercoat. The cat lacked several teeth, and the remaining teeth had an abnormal conical shape."
Breed:
Domestic Shorthair.
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| EDA | ectodysplasin A | Felis catus | X | NC_058386.1 (56708833..57152819) | EDA | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1705 | Domestic Shorthair | Hypohidrotic ectodermal dysplasia | EDA | missense | Naturally occurring variant | F.catus_Fca126_mat1.0 | X | NC_058386.1:g.57148944G>A | XM_011291781.3:c.1042G>A | XP_011290083.1:p.(A348T) | reported in a single cat | 2024 | 39062633 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000543-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Rietmann, S.J., Cochet-Faivre, N., Dropsy, H., Jagannathan, V., Chevallier, L., Leeb, T. : |
| EDA missense variant in a cat with X-linked hypohidrotic ectodermal dysplasia. Genes (Basel) 15:854, 2024. Pubmed reference: 39062633. DOI: 10.3390/genes15070854. |
Edit History
- Created by Imke Tammen2 on 28 Jul 2024
- Changed by Imke Tammen2 on 28 Jul 2024