OMIA:000543-103695 : Hypohidrotic ectodermal dysplasia, X-linked, EDA-related in Pogona vitticeps (central bearded dragon) |
In other species: dog , domestic cat , taurine cattle
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
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2016
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]
Species-specific name: scaleless
Species-specific symbol: Sca
Inheritance: co-dominant
Molecular basis: Di-Poï et al. (2026) investigated the scaleless phenotype in the bearded dragon. The authors sequenced functional candidate genes EDA and EDAR and identified an in-frame deletion of 14 amino acids (VLVDGTYFIYSQVE) in EDA as likely causal variant.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| EDA | ectodysplasin A | Pogona vitticeps | NW_018150753.1 (4454898..4488997) | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1739 | Scaleless | EDA | Sca | deletion, gross (>20) | Naturally occurring variant | "in-frame deletion of 14 amino acids in a highly conserved tumor necrosis factor (TNF) motif of the EDA protein" | 2016 | 28439533 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000543-103695: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2016 | Di-Poï, N., Milinkovitch, M.C. : |
| The anatomical placode in reptile scale morphogenesis indicates shared ancestry among skin appendages in amniotes. Sci Adv 2:e1600708, 2016. Pubmed reference: 28439533. DOI: 10.1126/sciadv.1600708. |
Edit History
- Created by Imke Tammen2 on 06 Sep 2024
- Changed by Imke Tammen2 on 06 Sep 2024