Ehlers-danlos Syndrome, Vascular Type

Description

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

Clinical Features

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

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism
  • Ptosis
  • Cognitive impairment
  • Flexion contracture
  • Hypertension
  • Epicanthus

And another 124 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, VASCULAR TYPE have a estimated prevalence of 1 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Ehlers-danlos Syndrome, Vascular Type Is also known as ehlers-danlos syndrome, type iv, autosomal dominant, eds type 4, ehlers-danlos syndrome type 4, ehlers-danlos syndrome type iv, ehlers-danlos syndrome, ecchymotic type, ehlers-danlos syndrome, arterial type, eds4, sack-barabas syndrome, eds iv, ehlers-danlos syndr.

Researches and researchers

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

Ehlers-danlos Syndrome, Vascular Type Experts map



Current Researchs and researchers

  • PARIS — Dr Michael FRANK

    Clinical geneticist - Investigator of research project - Contact person of registry

    • Institution/s:
      — CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
    • Research area/topic::

      Natural history of vascular Ehlers-Danlos syndrome



Mendelian

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Ehlers-danlos Syndrome, Vascular Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®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
100 %
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
10 %
Genes
100 %
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
100 %
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.

ORPHANET OMIM Rare Disease Symptoms Checker

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