Ehlers-Danlos Syndrome

"Ehlers-Danlos Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.

Descriptor ID	D004535
MeSH Number(s)	C14.907.454.240 C15.378.463.515.240 C16.131.831.428 C16.320.850.260 C17.300.200.310 C17.800.804.428 C17.800.827.260
Concept/Terms	Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Ehlers Danlos Syndrome Syndrome, Ehlers-Danlos Cutis Elastica Ehlers Danlos Disease Danlos Disease, Ehlers Disease, Ehlers Danlos Ehlers-Danlos Disease Disease, Ehlers-Danlos Ehlers-Danlos Syndrome, Type IV Ehlers-Danlos Syndrome, Type IV Ehlers Danlos Syndrome, Type IV Ehlers-Danlos Syndrome, Arterial Type Ehlers-Danlos Syndrome, Ecchymotic Type Ehlers-Danlos Syndrome, Sack-Barabas Type Ehlers Danlos Syndrome, Sack-Barabas Type Ehlers Danlos Syndrome, Sack Barabas Type Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant Ehlers Danlos Syndrome Type 4, Autosomal Dominant Ehlers Danlos Syndrome, Arterial Type Ehlers Danlos Syndrome, Ecchymotic Type Ehlers-Danlos Syndrome, Vascular Type Ehlers Danlos Syndrome, Vascular Type EDS IV

Below are MeSH descriptors whose meaning is more general than "Ehlers-Danlos Syndrome".

Diseases [C]
Cardiovascular Diseases [C14]
Vascular Diseases [C14.907]
Hemostatic Disorders [C14.907.454]
Ehlers-Danlos Syndrome [C14.907.454.240]
Hemic and Lymphatic Diseases [C15]
Hematologic Diseases [C15.378]
Hemorrhagic Disorders [C15.378.463]
Hemostatic Disorders [C15.378.463.515]
Ehlers-Danlos Syndrome [C15.378.463.515.240]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Skin Abnormalities [C16.131.831]
Ehlers-Danlos Syndrome [C16.131.831.428]
Genetic Diseases, Inborn [C16.320]
Skin Diseases, Genetic [C16.320.850]
Ehlers-Danlos Syndrome [C16.320.850.260]
Skin and Connective Tissue Diseases [C17]
Connective Tissue Diseases [C17.300]
Collagen Diseases [C17.300.200]
Ehlers-Danlos Syndrome [C17.300.200.310]
Skin Diseases [C17.800]
Skin Abnormalities [C17.800.804]
Ehlers-Danlos Syndrome [C17.800.804.428]
Skin Diseases, Genetic [C17.800.827]
Ehlers-Danlos Syndrome [C17.800.827.260]

Below are MeSH descriptors whose meaning is related to "Ehlers-Danlos Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Ehlers-Danlos Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Ehlers-Danlos Syndrome" by people in this website by year, and whether "Ehlers-Danlos Syndrome" was a major or minor topic of these publications.

Bar chart showing 10 publications over 8 distinct years, with a maximum of 2 publications in 2006 and 2011

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2004	1	0	1
2005	1	0	1
2006	2	0	2
2007	1	0	1
2010	0	1	1
2011	1	1	2
2012	1	0	1
2016	0	1	1

Below are the most recent publications written about "Ehlers-Danlos Syndrome" by people in Profiles.

Weinsaft JW, Devereux RB, Preiss LR, Feher A, Roman MJ, Basson CT, Geevarghese A, Ravekes W, Dietz HC, Holmes K, Habashi J, Pyeritz RE, Bavaria J, Milewski K, LeMaire SA, Morris S, Milewicz DM, Prakash S, Maslen C, Song HK, Silberbach GM, Shohet RV, McDonnell N, Hendershot T, Eagle KA, Asch FM. Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry. J Am Coll Cardiol. 2016 06 14; 67(23):2744-2754.

View in: PubMed
Sherif HM, Blackwell RA. Successful coronary artery bypass in Ehlers-Danlos type IV syndrome case report and review of the literature. Tex Heart Inst J. 2012; 39(5):699-702.

View in: PubMed
Calmus ML, Macksoud EE, Tucker R, Iozzo RV, Lechner BE. A mouse model of spontaneous preterm birth based on the genetic ablation of biglycan and decorin. Reproduction. 2011 Jul; 142(1):183-94.

View in: PubMed
Remvig L, Engelbert RH, Berglund B, Bulbena A, Byers PH, Grahame R, Juul-Kristensen B, Lindgren KA, Uitto J, Wekre LL. Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type indicated? Rheumatology (Oxford). 2011 Jun; 50(6):1169-71.

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Tjoumakaris FP, Forsythe B, Bradley JP. Patellofemoral instability in athletes: treatment via modified Fulkerson osteotomy and lateral release. Am J Sports Med. 2010 May; 38(5):992-9.

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Cabral WA, Makareeva E, Letocha AD, Scribanu N, Fertala A, Steplewski A, Keene DR, Persikov AV, Leikin S, Marini JC. Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. Hum Mutat. 2007 Apr; 28(4):396-405.

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Wenstrup RJ, Florer JB, Davidson JM, Phillips CL, Pfeiffer BJ, Menezes DW, Chervoneva I, Birk DE. Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. J Biol Chem. 2006 May 5; 281(18):12888-95.

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Segev F, Héon E, Cole WG, Wenstrup RJ, Young F, Slomovic AR, Rootman DS, Whitaker-Menezes D, Chervoneva I, Birk DE. Structural abnormalities of the cornea and lid resulting from collagen V mutations. Invest Ophthalmol Vis Sci. 2006 Feb; 47(2):565-73.

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Uitto J. The Ehlers-Danlos syndrome--phenotypic spectrum and molecular genetics. Eur J Dermatol. 2005 Sep-Oct; 15(5):311-2.

View in: PubMed
Uitto J, Ringpfeil F. Ehlers-Danlos syndrome-molecular genetics beyond the collagens. J Invest Dermatol. 2004 Apr; 122(4):xii-xiii.

View in: PubMed

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