Ehlers-Danlos Syndrome (Cat)
Ehlers-Danlos Syndrome – L1141Sfster134
General description
A genetic variant of the COL5A1 gene was identified in a cat and linked to classic Ehlers-Danlos syndrome (cEDS). Ehlers-Danlos syndromes are a group of connective tissue disorders that also occur in humans. The affected cat exhibited excessively elastic skin with wounds scattered across its entire body and some scars, as well as excessive joint mobility (hypermobility). The wounds developed even as a result of minor trauma.
Breeds
German Shorthaired Pointer
Order details
| Test Number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | EDS |
Test specifications
| Inheritance | autosomal-dominant |
| Gene | COL5A1 |
| Mutation | C-T |
| References | OMIA:002165-9685 |
Ehlers-Danlos Syndrome – G1023Vfster50
General description
A genetic variant of the COL5A1 gene was identified in a cat and linked to classic Ehlers-Danlos syndrome (cEDS). Ehlers-Danlos syndromes are a group of connective tissue disorders that also occur in humans. The affected cat had excessively elastic skin with wounds scattered all over its body and some scars. The wounds developed even as a result of minor trauma.
Breeds
German Shorthaired Pointer
Order details
| Test Number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | EDS |
Test specifications
| Pattern of Inheritance | probably autosomal dominant |
| Gene | COL5A1 |
| Mutation | DEL |
| References | OMIA:002165-9685 |
Ehlers-Danlos Syndrome – L1172ter
General description
A genetic variant of the COL5A1 gene was identified in two Bombay cats and linked to classic Ehlers-Danlos syndrome (cEDS). Ehlers-Danlos syndromes are a group of connective tissue disorders that also occur in humans. The affected cats had excessively elastic skin with wounds scattered all over their bodies and some scars. The wounds were caused by even minor trauma. One of the cats developed epilepsy.
Breeds
Bombay Cat
Order details
| Test Number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | EDS |
Test specifications
| Pattern of Inheritance | probably autosomal dominant |
| Gene | COL5A1 |
| Variant | T-A |
| References | OMIA:002165-9685 |
Ehlers-Danlos Syndrome – splice
General description
A genetic variant of the COL5A1 gene was identified in a cat and linked to classic Ehlers-Danlos syndrome (cEDS). Ehlers-Danlos syndromes are a group of connective tissue disorders that also occur in humans. The affected cat had thin, excessively elastic skin with several wounds and some scars, as well as signs of hypersensitivity to tactile stimuli (hyperesthesia). She also exhibited chronic itching, mild paralysis, difficulty swallowing (dysphagia), and chronic constipation (obstipation).
Breeds
DMH
Order details
| Test Number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | EDS |
Test specifications
| Inheritance | autosomal-dominant |
| Gene | COL5A1 |
| Variant | A–C |
| References | OMIA:002165-9685 |
