Ehlers-danlos Syndrome Type 1

Description

Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.

Clinical Features

Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome Type 1

  • Scoliosis
  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia
  • Gastroesophageal reflux
  • Umbilical hernia
  • Pes planus
  • Pectus carinatum
  • Joint hyperflexibility

And another 20 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available EHLERS-DANLOS SYNDROME TYPE 1 have a estimated prevalence of 5 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Ehlers-danlos Syndrome Type 1 Is also known as eds i.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Ehlers-danlos Syndrome Type 1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
67 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
67 %
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, SMAD3, MYH11, MYLK, NOTCH1, PLOD1
Specificity
11 %
Genes
67 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 13 more genes
Specificity
7 %
Genes
67 %
Ehlers-Danlos Type I/II (COL5A1/COL5A2).

By Center for Human Genetics, Inc (United States).

COL5A1, COL5A2
Specificity
100 %
Genes
67 %
Connective Tissue Disorders 22-gene panel.

By Center for Human Genetics, Inc (United States).

TGFB2, TGFBR1, TGFBR2, TGFBR3, ACTA2, NTM, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, SMAD3, MYH11, MYLK, NOTCH1, PRKG1
Specificity
10 %
Genes
67 %
Ehlers-Danlos syndrome, types I & II genomic sequencing and deleltion/duplication analysis.

By Collagen Diagnostic Laboratory University of Washington (United States).

COL5A1, COL5A2
Specificity
100 %
Genes
67 %
Comprehensive Ehlers-Danlos Syndrome Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

C1R, C1S, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, CHST14, ATP7A, PLOD1
Specificity
17 %
Genes
67 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET Rare Disease Search Engine

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