Ehlers-Danlos syndrome and differential diagnosis [68 genes]

Ehler-Danlos syndrome is a heterogeneous group of diseases characterized by the fragility of connective tissue, resulting in widespread manifestations of the skin, ligaments, joints, vasculature, and/or internal organs. The clinical spectrum is highly variable, from mild skin and joint hypermobility to severe physical disability and life-threatening vascular complications.

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This service includes the genes of Ehler-Danlos syndrome and those of entities that can be confused during the differential diagnosis carried out by a dermatologist. Thus, the differential diagnosis is focused on diseases that must be considered during this process due to their superimposable or overlapping skin manifestations with those detected in one form or another of Ehler-Danlos syndrome.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention or palliation of associated comorbidities in patients with Ehler-Danlos syndrome.

Service indicated when there is a moderate or high clinical suspicion of the disease.

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Ehlers-Danlos syndrome and differential diagnosis

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202313152

Ehlers-Danlos syndrome and differential diagnosis: View panel

Virtual panel based on whole exome sequencing, aimed at the analysis of all genes with high, moderate, and low evidence related to Ehler-Danlos syndrome, as well as those associated with differential diagnosis entities due to their skin manifestations.

  • ABCC6
  • ADAMTS2
  • AEBP1
  • ALDH18A1
  • ALPL
  • ATP6V0A2
  • ATP6V1A
  • ATP6V1E1
  • ATP7A
  • B3GALT6
  • B4GALT7
  • BGN
  • C1R
  • C1S
  • CCDC134
  • CHST14
  • CHST3
  • COL12A1
  • COL1A1
  • COL1A2
  • COL3A1
  • COL5A1
  • COL5A2
  • COL6A1
  • COL6A2
  • COL6A3
  • CSF3R
  • CTSC
  • DDX58
  • DSE
  • EFEMP2
  • ELANE
  • ELN
  • FBLN5
  • FBN1
  • FERMT1
  • FKBP14
  • FLNA
  • G6PC3
  • GFI1
  • GGCX
  • HAX1
  • IFIH1
  • JAGN1
  • LTBP1
  • LTBP4
  • PIEZO2
  • PKD1
  • PKD2
  • PLOD1
  • PRDM5
  • PYCR1
  • SERPING1
  • SLC2A10
  • SLC39A13
  • SMAD2
  • SMAD3
  • SRP54
  • TGFB2
  • TGFB3
  • TGFBR1
  • TGFBR2
  • TNXB
  • VPS45
  • WAS
  • XYLT1
  • XYLT2
  • ZNF469

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Ehlers-Danlos syndrome

References

  1. Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. PMID: 28306229.
  2. Malfait F, Wenstrup R, De Paepe A. Classic Ehlers-Danlos Syndrome. 2007 May 29 [Updated 2018 Jul 26]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1244/
  3. Levy HP. Hypermobile Ehlers-Danlos Syndrome. 2004 Oct 22 [Updated 2018 Jun 21]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1279/
  4. Byers PH. Vascular Ehlers-Danlos Syndrome. 1999 Sep 2 [Updated 2019 Feb 21]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1494/
  5. Kapferer-Seebacher I, van Dijk FS, Zschocke J. Periodontal Ehlers-Danlos Syndrome. 2021 Jul 29. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK572429/
  6. Giunta C, Rohrbach M, Fauth C, et al. FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome. 2019 May 23. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK541503/
  7. Yeowell HN, Steinmann B. PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome. 2000 Feb 2 [Updated 2018 Oct 18]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1462/