Ehler's Danlos Syndrome

5 Quick Facts about Vascular Ehler's Danlos Syndrome (EDS)

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Genetic cause

Gene substitution of glycine in COL3A1 gene

Symptoms

• Translucent skin
• Fragile arteries, muscles, and internal organs
• Characteristic facial appearance

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Tracing the gene to the phenotype

https://i0.wp.com/www.compoundchem.com/wp-content/uploads/2014/09/20-Common-Amino-Acids-v3.png?ssl=1

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Pattern of inheritance- autosomal dominant

https://bcm441.kericolabroy.bergbuilds.domains/diseases/diseases-a-through-g/ehlers-danlos-syndrome/

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Common treatments

• Medical and/or surgical management for arterial or bowel ruptures
• Constant surveilance via MRI, MRA, or CT angiogram

https://en.wikipedia.org/wiki/Dominance_%28genetics%29

sources

• Byers PH. 1993. Vascular Ehlers-Danlos Syndrome. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Mirzaa G, Amemiya A, editors. PubMed. https://www.ncbi.nlm.nih.gov/books/NBK1494/.
• Ehlers-Danlos syndrome: MedlinePlus Genetics. medlineplusgov. https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/.
• Ehlers-Danlos Syndrome (EDS), Vascular Type. Biochemistry @ Muhlenberg. https://bcm441.kericolabroy.bergbuilds.domains/diseases/diseases-a-through-g/ehlers-danlos-syndrome/.
• Normal Function. [accessed 2023 Apr 27]. https://medlineplus.gov/download/genetics/gene/col1a1.pdf.
• Razak MA, Begum PS, Viswanath B, Rajagopal S. 2017. Multifarious Beneficial Effect of Nonessential Amino Acid, Glycine: A Review. Oxidative Medicine and Cellular Longevity. 2017:1–8. doi:https://doi.org/10.1155/2017/1716701.
• Valdés-Jorquera R, Oviedo-Castro L, Oliva CA, Mariqueo TA. 2022. Role of Glycine and Glycine Receptors in Vascular Endothelium: A New Perspective for the Management of the Post-Ischemic Injury. Current Vascular Pharmacology. 20(3):221–229. doi:https://doi.org/10.2174/1570161120666220720101352. [accessed 2023 Apr 27]. https://pubmed.ncbi.nlm.nih.gov/35864795/.