Ehlers-danlos Syndrome, Hypermobility Type

Description

Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

Clinical Features

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

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue
  • Vomiting
  • Abnormality of the dentition
  • Dilatation
  • Depressivity
  • Arrhythmia

And another 58 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, HYPERMOBILITY TYPE have a estimated prevalence of 12.5 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Ehlers-danlos Syndrome, Hypermobility Type Is also known as benign joint hypermobility syndrome, ehlers-danlos syndrome, hypermobile type, ht-eds, ehlers-danlos syndrome, type iii, benign hypermobility syndrome, ehlers-danlos syndrome type 3, eds iii, eds3, bjhs.

Researches and researchers

Doctors, researchs, and experts related to Ehlers-danlos Syndrome, Hypermobility Type extracted from public data.

Ehlers-danlos Syndrome, Hypermobility Type Experts map



Current Researchs and researchers

  • LONDON — Ms Sue M MAILLARD

    Investigator of research project - Contact person of registry

    • Institution/s:
      — UCL Institute of Child Health, University College London
    • Research area/topic::

      Management of Benign Joint Hypermobility syndrome



Mendelian

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Ehlers-danlos Syndrome, Hypermobility Type 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
50 %
COL3A1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

COL3A1
Specificity
100 %
Genes
50 %
COL3A1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

COL3A1
Specificity
100 %
Genes
50 %
COL3A1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

COL3A1
Specificity
100 %
Genes
50 %
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
5 %
Genes
50 %
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
6 %
Genes
50 %
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
100 %
Congenital Contractures Panel.

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

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Rare Disease Search Engine

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