EDS
MCID: EHL001
MIFTS: 58

Ehlers-Danlos Syndrome (EDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome

MalaCards integrated aliases for Ehlers-Danlos Syndrome:

Name: Ehlers-Danlos Syndrome 12 74 25 58 36 29 54 6 42 43 15 71 32
Elastic Skin 12 54
Eds 52 25
Ehlers-Danlos Syndromes 52
Syndrome, Ehlers-Danlos 39
Ehlers Danlos Syndrome 52
Ehlers Danlos Disease 25
Cutis Hyperelastica 12
Ed Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
ehlers-danlos syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:13359
KEGG 36 H00802
ICD9CM 34 756.83
MeSH 43 D004535
NCIt 49 C34568
SNOMED-CT 67 398114001
ICD10 32 Q79.6
MESH via Orphanet 44 D004535
ICD10 via Orphanet 33 Q79.6
UMLS via Orphanet 72 C0013720
Orphanet 58 ORPHA98249
UMLS 71 C0013720

Summaries for Ehlers-Danlos Syndrome

Genetics Home Reference : 25 Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications. The various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were discovered more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome. An unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth. Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present. Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser extent the kyphoscoliotic, classical, and classical-like types, can cause unpredictable tearing (rupture) of blood vessels, leading to internal bleeding and other potentially life-threatening complications. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus during pregnancy. Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.

MalaCards based summary : Ehlers-Danlos Syndrome, also known as elastic skin, is related to ehlers-danlos syndrome, hypermobility type and ehlers-danlos syndrome, classic type, 2, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Ehlers-Danlos Syndrome is COL3A1 (Collagen Type III Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Celiprolol and Adrenergic beta-Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are cardiovascular system and growth/size/body region

Disease Ontology : 12 A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.

NIH Rare Diseases : 52 Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen . The new classification , from 2017, includes 13 subtypes of EDS. Although other forms of the condition may exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Mutations in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Please visit the following link from the Ehlers-Danlos Society to learn more about the new classification and the different subtypes: https://ehlers-danlos.com/eds-types/

MedlinePlus : 42 Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. EDS usually affects your skin, joints and blood vessel walls. Symptoms include Loose joints Fragile, small blood vessels Abnormal scar formation and wound healing Soft, velvety, stretchy skin that bruises easily There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.

KEGG : 36 Ehlers-Danlos syndrome (EDS) is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. Most EDS subtypes are caused by mutations in genes encoding the fibrillar collagens, or in genes coding for enzymes involved in the post-translational modification of these collagens. EDS can be classified into 13 subtypes: classical type (EDSCL), classical-like type (EDSCLL), cardiac-valvular type (EDSCV), vascular type (EDSVASC), hypermobility type (EDSHMB), arthrochalasia type (EDSARTH), dermatospraxis type (EDSDERMS), kyphoscoliosis type (EDSKSCL), brittle cornea syndrome (BCS), spondylodysplastic type (EDSSPD), musculocontractural type (EDSMC), myopathic type (EDSMYP), and periodontal type (EDSPD).

Wikipedia : 74 Ehlers-Danlos syndromes (EDS) are a group of rare genetic connective tissue disorders. Symptoms may... more...

Related Diseases for Ehlers-Danlos Syndrome

Diseases in the Ehlers-Danlos Syndrome family:

Type I Ehlers-Danlos Syndrome Autosomal Recessive Type Iv Ehlers-Danlos Syndrome

Diseases related to Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1057)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, hypermobility type 35.6 TNXB SLC39A13
2 ehlers-danlos syndrome, classic type, 2 35.5 COL5A2 COL5A1 COL3A1
3 periodontal ehlers-danlos syndrome 35.4 C1S C1R
4 kyphoscoliotic ehlers-danlos syndrome 35.4 PLOD1 FKBP14
5 ehlers-danlos syndrome, classic-like 35.4 TNXB LOC106780803 AEBP1
6 ehlers-danlos syndrome, arthrochalasia type, 2 35.4 COL1A2 COL1A1
7 arthrochalasia ehlers-danlos syndrome 35.4 COL1A2 COL1A1
8 musculocontractural ehlers-danlos syndrome 35.4 DSE CHST14
9 ehlers-danlos syndrome, periodontal type, 1 35.4 C1S C1R
10 ehlers-danlos syndrome progeroid type 35.3 B4GALT7 B3GALT6
11 ehlers-danlos syndrome, classic type, 1 35.2 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
12 ehlers-danlos syndrome, periodontal type, 2 35.2 C1S C1R
13 classic ehlers-danlos syndrome 35.1 TNXB COL5A2 COL5A1 COL1A2 COL1A1
14 hypermobile ehlers-danlos syndrome 35.1 TNXB PLOD1 FKBP14 COL1A1
15 type i ehlers-danlos syndrome 34.6 DSE COL1A2 COL1A1 CHST14
16 brittle cornea syndrome 2 33.8 TNXB SLC39A13 PLOD1 FKBP14 COL5A2 COL5A1
17 aortic aneurysm, familial thoracic 1 33.7 COL5A2 COL5A1 COL3A1
18 loeys-dietz syndrome 33.4 COL5A2 COL5A1 COL3A1
19 orthostatic intolerance 32.7 TNXB PLOD1 FLNA COL5A2 COL5A1 COL3A1
20 connective tissue disease 32.6 TNXB PLOD1 FLNA COL5A2 COL5A1 COL3A1
21 hypermobility syndrome 32.1 TNXB COL5A2 COL5A1 COL3A1 C1R
22 ehlers-danlos/osteogenesis imperfecta syndrome 31.8 COL1A2 COL1A1
23 brittle bone disorder 31.7 PLOD1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
24 pelvic organ prolapse 31.5 TNXB COL3A1 COL1A2 COL1A1
25 marfan syndrome 31.4 FLNA COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
26 scoliosis 31.4 PLOD1 FLNA FKBP14 COL5A1 COL1A2 COL1A1
27 congenital contractures 31.4 PLOD1 CHST14
28 col1a1/2 osteogenesis imperfecta 31.0 COL1A2 COL1A1
29 quadricuspid aortic valve 30.9 TNXB LOC106780803
30 aortic valve disease 1 30.9 FLNA COL5A2 COL5A1 COL3A1
31 gingival recession 30.8 C1S C1R
32 osteogenesis imperfecta, type iii 30.8 COL5A2 COL1A2 COL1A1
33 hypomelanosis of ito 30.8 PLOD1 COL5A1
34 osteogenesis imperfecta, type ii 30.8 COL5A2 COL5A1 COL1A2 COL1A1
35 bethlem myopathy 1 30.1 PLOD1 FKBP14 COL3A1
36 c1 inhibitor deficiency 30.0 C1S C1R
37 collagen disease 29.8 TNXB SLC39A13 PLOD1 FKBP14 COL5A2 COL5A1
38 ehlers-danlos syndrome, vascular type 13.3
39 ehlers-danlos syndrome, kyphoscoliotic type, 1 13.2
40 ehlers-danlos syndrome, spondylodysplastic type, 3 13.2
41 ehlers-danlos syndrome, cardiac valvular type 13.2
42 ehlers-danlos syndrome, dermatosparaxis type 13.1
43 ehlers-danlos syndrome, kyphoscoliotic type, 2 13.1
44 ehlers-danlos syndrome, spondylodysplastic type, 1 13.1
45 ehlers-danlos syndrome, spondylodysplastic type, 2 13.0
46 ehlers-danlos syndrome, arthrochalasia type, 1 13.0
47 ehlers-danlos syndrome, musculocontractural type, 1 13.0
48 ehlers-danlos syndrome, musculocontractural type, 2 13.0
49 ehlers-danlos syndrome, classic-like, 2 13.0
50 polymicrogyria with or without vascular-type ehlers-danlos syndrome 12.9

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome:



Diseases related to Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Ehlers-Danlos Syndrome

UMLS symptoms related to Ehlers-Danlos Syndrome:


back pain, sciatica, muscle cramp

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 AEBP1 C1R CHST14 COL1A1 COL1A2 COL3A1
2 growth/size/body region MP:0005378 10.15 ADAMTS2 AEBP1 CHST14 COL1A1 COL1A2 COL3A1
3 integument MP:0010771 10.13 ADAMTS2 AEBP1 CHST14 COL1A1 COL1A2 COL3A1
4 mortality/aging MP:0010768 10.07 AEBP1 B3GALT6 CHST14 COL1A1 COL1A2 COL3A1
5 respiratory system MP:0005388 9.7 ADAMTS2 C1R COL1A1 COL3A1 COL5A2 FLNA
6 skeleton MP:0005390 9.61 ADAMTS2 CHST14 COL1A1 COL1A2 COL5A2 FLNA
7 vision/eye MP:0005391 9.23 B3GALT6 COL1A1 COL1A2 COL5A1 COL5A2 FLNA

Drugs & Therapeutics for Ehlers-Danlos Syndrome

Drugs for Ehlers-Danlos Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celiprolol Approved, Investigational Phase 4 56980-93-9
2 Adrenergic beta-Antagonists Phase 4
3 Adrenergic beta-1 Receptor Antagonists Phase 4
4 Adrenergic Agents Phase 4
5 Adrenergic Antagonists Phase 4
6 Neurotransmitter Agents Phase 4
7 Vasodilator Agents Phase 4
8 Sympathomimetics Phase 4
9
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
10
Angiotensin II Approved, Investigational Phase 3 4474-91-3, 11128-99-7, 68521-88-0 172198
11 Antihypertensive Agents Phase 3
12 Angiotensin II Type 1 Receptor Blockers Phase 3
13 Angiotensinogen Phase 3
14 Angiotensin Receptor Antagonists Phase 3
15 Giapreza Phase 3
16
Zoledronic Acid Approved 118072-93-8 68740
17
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
18
Mecasermin Approved, Investigational 68562-41-4
19
Acetylcholine Approved, Investigational 51-84-3 187
20
Ethanol Approved 64-17-5 702
21
Lidocaine Approved, Vet_approved 137-58-6 3676
22
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
23
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
24
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
25 Micronutrients
26 Trace Elements
27 Vitamins
28 Vitamin B Complex
29 Nutrients
30 Folate
31 Dermatologic Agents
32 Photosensitizing Agents
33 Vitamin B2
34 Vitamin B9
35 Analgesics, Opioid
36 Liver Extracts
37 Immunoglobulins
38 Antibodies
39 Anti-Arrhythmia Agents
40 Sodium Channel Blockers
41 Anesthetics
42 Anesthetics, Local
43 Diuretics, Potassium Sparing

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 VeinViewer Assisted Intravenous Catheter Placement in the Pediatric Emergency Department Unknown status NCT00468065 Phase 4
2 Prevention of Vascular Complications by BetaBlocker Treatment in Vascular Ehlers-Danlos Syndrome Completed NCT00190411 Phase 4 celiprolol;Control
3 Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome: a Double Blind, Randomized, Placebo Controlled, Multicenter Trial. Recruiting NCT02597361 Phase 3 Irbesartan;Placebo
4 A Pilot Study of Mind-Body Therapy for Chronic Pain in Ehlers-Danlos Syndrome Completed NCT00001966 Phase 2 Mind-body therapy
5 Compression Garments Effects on Postural Balance of Patients With Hypermobility Type of Ehlers-danlos Syndrome, a Prospective Study on 40 Patients Unknown status NCT03359135
6 Effectiveness of Wearing a Compression Garment (SED CICATREX® Model) for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Unknown status NCT02144532
7 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Riboflavin
8 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
9 Tolerance and Efficacy Evaluation of Three Face Creams in Subjects Undergoing to Injection Procedure With Hyaluronic Acid (Intradermal Implant) Unknown status NCT02063971
10 Evaluation of an Education Program for Patients With Hypermobility Type Ehlers-Danlos Syndrome Completed NCT02817490
11 Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome Completed NCT02165085
12 Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome Completed NCT02712060
13 Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders Completed NCT00001641
14 Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome Completed NCT02435745
15 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia ("POTS" -- Postural Orthostatic Tachycardia Syndrome)Later in Life -- a Retrospective Analysis Completed NCT01367977
16 Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue Completed NCT00270686
17 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
18 IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos Patients Completed NCT01446783 mecasermin;Saline
19 Opiod-Free Intravenous Anesthesia for Patients With Joint Hypermobility Syndrome Undergoing Craneo-Cervical Fixation: A Case-series Study Focused on Anti-hyperalgesic Approach Completed NCT04437589
20 Vascular Fundus Changes in Patients With High Probability of CCSVI (Chronic Cerebrospinal Venous Insufficiency) Completed NCT01356134
21 Assessment of Gastric Motility on Funtional Dyspepsia and Joint Hypermobility Syndrome Completed NCT04279990
22 Establishment of Local Arterial Stiffness Normal Values (Carotid and Femoral) on Healthy Volunteers Using Supersonic Shear Imaging Completed NCT01096264
23 Investigating the Effects of Exercises in Addition to Dynamic Compression Brace in Patients With Pectus Carinatum: a Single Blinded Randomized Controlled Trial Completed NCT03559244
24 Operative Versus Non-operative Treatment of Achilles Tendon Rupture: A Multicentre, Prospective Randomized Study. Completed NCT00284648
25 Evaluation of the Effect of Custom Compression Garments on Standing Static Balance in Ehlers Danlos Syndrome Recruiting NCT03986229
26 Autonomic Neuropathy and Its Pathophysiology in Autoimmune Autonomic Neuropathies, Postural Orthostatic Tachycardia Syndrome and Ehlers Danlos Syndromes: Peripheral Autonomic Small Fiber Neuropathy or Central Autonomic Failure? Recruiting NCT04310644
27 Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome Recruiting NCT03596437
28 Validity of Somatosensori Remediation for Postural Control in the Treatment of Ehlers-Danlos Syndrome Hypermobility Type (hEDS) Recruiting NCT04020107
29 Understanding Impaired Concentration, Attentional Deficits and Their Pathophysiology in Postural Orthostatic Tachycardia Syndrome (POTS) and Other Autonomic Neuropathies (POTSKog-Study Aachen) Recruiting NCT03681080
30 Genetic Risks for Bicuspid Aortic Valve Disease Recruiting NCT01823432
31 Evaluation of the Safety and Performance of the Multilayer Flow Modulator (MFM) for the Treatment of Chronic Type B Aortic Dissection Recruiting NCT03033771
32 Sleep Disordered Breathing in Marfan Syndrome: Susceptibility and Hemodynamics Recruiting NCT03985657
33 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
34 Assessment of the Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging - A Monocentric Study Recruiting NCT02538822
35 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710
36 Retuning the Nervous System in Youth With Chronic Pain Recruiting NCT03686748 Early Phase 1
37 Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices Recruiting NCT02050113
38 Impact Study on Cerecare Compression Garments in the Treatment of Ehlers-Danlos Syndromes Active, not recruiting NCT03451188
39 Standing Cognition and Co-morbidities of POTS Evaluation Active, not recruiting NCT03602482
40 Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia Syndrome Active, not recruiting NCT02196376
41 Local Anesthetic Response in Ehlers-Danlos Syndrome (EDS) and Healthy Volunteers Enrolling by invitation NCT04036305 0.9% Sodium Chloride Injection;Lidocaine Injection 2%;Bupivacaine Injection 0.5%
42 Origins and Impact of EDS in Connective Tissues and Skin Enrolling by invitation NCT02721797
43 Registry of Ehlers-Danlos Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample Enrolling by invitation NCT04133272
44 Efficiency Clinical Study of NOVATEX MEDICAL Pressure Garments in Patients With Ehlers-Danlos Syndrome Not yet recruiting NCT03330977
45 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Not yet recruiting NCT03575182
46 Determine the Causative Genetic Variations in Patients With Ehlers-Danlos Syndrome Suspended NCT03093493
47 Head Circumference Growth in Children Who Develop Multiple Sclerosis Later in Life -- a Retrospective Analysis Withdrawn NCT01377805

Search NIH Clinical Center for Ehlers-Danlos Syndrome

Cochrane evidence based reviews: ehlers-danlos syndrome

Genetic Tests for Ehlers-Danlos Syndrome

Genetic tests related to Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome 29

Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

40
Skin, Bone, Eye, Heart, Lung, Colon, Uterus

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

(show top 50) (show all 3173)
# Title Authors PMID Year
1
Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing. 42 61
32174067 2020
2
Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome. 61 42
31905796 2019
3
Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome. 42 61
31791984 2019
4
Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. 61 52
24994860 2015
5
The Ehlers-Danlos syndrome. 52 61
24443025 2014
6
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 54 61
20503305 2010
7
Tenascin-X increases the stiffness of collagen gels without affecting fibrillogenesis. 54 61
20089348 2010
8
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. 54 61
19455184 2009
9
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 54 61
19639654 2009
10
Ehlers-Danlos type IV in pregnancy with a history of myocardial infarction. 54 61
19751346 2009
11
Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections. 54 61
19477391 2009
12
Determination of beta4-galactosyltransferase-7 activity using high-performance liquid chromatography-electrospray ionization tandem mass spectrometry. 54 61
19133250 2009
13
Crystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetries. 54 61
18805790 2008
14
Vascular type of Ehlers-Danlos syndrome. 61 54
19023163 2008
15
Pseudoaneurysm of the peroneal artery: presentation of Ehlers-Danlos syndrome type IV. 61 54
18485758 2008
16
Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice. 54 61
18335242 2008
17
FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts. 54 61
18405669 2008
18
Natural variation in four human collagen genes across an ethnically diverse population. 54 61
18272325 2008
19
Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome. 54 61
18158310 2008
20
Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. 54 61
18284404 2008
21
A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections. 54 61
18389341 2008
22
Novel localization of tenascin-X in adult mouse leptomeninges and choroid plexus. 61 54
18595676 2008
23
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. 54 61
17702048 2007
24
The glycosaminoglycan chain of decorin plays an important role in collagen fibril formation at the early stages of fibrillogenesis. 54 61
17651433 2007
25
Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome. 61 54
17487505 2007
26
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. 54 61
17206620 2007
27
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. 54 61
17211858 2007
28
Wound healing in tenascin-X deficient mice suggests that tenascin-X is involved in matrix maturation rather than matrix deposition. 54 61
17453911 2007
29
Interactions of human tenascin-X domains with dermal extracellular matrix molecules. 61 54
17033827 2007
30
A model of tenascin-X integration within the collagenous network. 61 54
17078949 2006
31
A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations. 61 54
16863833 2006
32
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). 61 54
16583246 2006
33
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. 61 54
16816023 2006
34
Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. 61 54
16492673 2006
35
Abdominal aortic aneurysm is associated with high serum levels of tenascin-X and decreased aneurysmal tissue tenascin-X. 61 54
16567571 2006
36
Dermal connective tissue development in mice: an essential role for tenascin-X. 61 54
16331473 2006
37
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 54 61
15994863 2006
38
Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. 54 61
16407265 2006
39
Structural abnormalities of the cornea and lid resulting from collagen V mutations. 61 54
16431952 2006
40
Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome. 54 61
16937863 2006
41
Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. 54 61
16278880 2005
42
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). 61 54
15979919 2005
43
Caffey disease: an unlikely collagenopathy. 54 61
15864344 2005
44
Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. 54 61
15793839 2005
45
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 61 54
15666309 2005
46
Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components. 61 54
15558324 2005
47
Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene. 61 54
15859521 2005
48
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 54 61
15668422 2005
49
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). 61 54
15389701 2004
50
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. 54 61
15365990 2004

Variations for Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Ehlers-Danlos Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL3A1 NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg)SNV Conflicting interpretations of pathogenicity 161218 rs111840783 2:189875018-189875018 2:189010292-189010292
2 COL5A1 NM_001278074.1(COL5A1):c.5077G>A (p.Ala1693Thr)SNV Uncertain significance 426981 rs560195385 9:137721963-137721963 9:134830117-134830117
3 FLNA NM_001110556.2(FLNA):c.6532G>C (p.Val2178Leu)SNV Uncertain significance 625275 rs1569551461 X:153580786-153580786 X:154352418-154352418
4 PLOD1 NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys)SNV Uncertain significance 626255 rs1181531160 1:12017932-12017932 1:11957875-11957875

Copy number variations for Ehlers-Danlos Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 197330 5 176600000 180915260 Gain Ehlers-danlos syndrome

Expression for Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome.

Pathways for Ehlers-Danlos Syndrome

Pathways related to Ehlers-Danlos Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512

Pathways related to Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 TNXB FLNA COL5A2 COL5A1 COL3A1 COL1A2
2
Show member pathways
12.48 PLOD3 PLOD1 COL5A2 COL5A1 COL3A1 COL1A2
3
Show member pathways
12.32 DSE CHST14 B4GALT7 B3GALT6
4
Show member pathways
11.93 TNXB PLOD3 PLOD1 COL5A2 COL5A1 COL3A1
5 11.79 COL3A1 COL1A2 COL1A1
6
Show member pathways
11.69 COL3A1 COL1A2 COL1A1
7 11.66 COL3A1 COL1A2 COL1A1
8 11.63 COL3A1 COL1A2 COL1A1
9 11.37 COL3A1 COL1A2 COL1A1
10 11.25 COL3A1 COL1A2 COL1A1
11 11.02 COL3A1 COL1A2 COL1A1
12 10.99 TNXB COL5A2 COL5A1 COL3A1 COL1A2
13 10.9 COL1A2 COL1A1
14 10.73 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1

GO Terms for Ehlers-Danlos Syndrome

Cellular components related to Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.1 TNXB PLOD3 PLOD1 FLNA COL1A2 CHST14
2 extracellular region GO:0005576 10.1 TNXB PLOD3 FLNA COL5A2 COL5A1 COL3A1
3 extracellular space GO:0005615 10.07 TNXB PLOD3 COL5A2 COL5A1 COL3A1 COL1A2
4 endoplasmic reticulum GO:0005783 10.06 SLC39A13 PLOD3 PLOD1 FKBP14 DSE COL1A2
5 Golgi apparatus GO:0005794 10.02 SLC39A13 PLOD3 DSE COL1A1 CHST14 B4GALT7
6 Golgi membrane GO:0000139 9.91 SLC39A13 DSE CHST14 B4GALT7 B3GALT6
7 endoplasmic reticulum lumen GO:0005788 9.7 PLOD3 FKBP14 COL5A2 COL5A1 COL3A1 COL1A2
8 collagen trimer GO:0005581 9.65 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
9 extracellular matrix GO:0031012 9.5 TNXB COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
10 collagen type V trimer GO:0005588 9.43 COL5A2 COL5A1
11 collagen type I trimer GO:0005584 9.4 COL1A2 COL1A1
12 collagen-containing extracellular matrix GO:0062023 9.28 TNXB PLOD3 COL5A2 COL5A1 COL3A1 COL1A2

Biological processes related to Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.8 COL5A2 COL3A1 COL1A2 COL1A1
2 platelet activation GO:0030168 9.76 FLNA COL3A1 COL1A2 COL1A1
3 extracellular matrix organization GO:0030198 9.7 TNXB COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
4 protein O-linked glycosylation GO:0006493 9.69 PLOD3 PLOD1 B3GALT6
5 blood vessel development GO:0001568 9.67 COL5A1 COL3A1 COL1A2 COL1A1
6 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.58 DSE B3GALT6
7 collagen metabolic process GO:0032963 9.58 TNXB PLOD3 COL1A2
8 glycosaminoglycan metabolic process GO:0030203 9.57 B4GALT7 B3GALT6
9 dermatan sulfate biosynthetic process GO:0030208 9.56 DSE CHST14
10 cellular response to amino acid stimulus GO:0071230 9.56 COL5A2 COL3A1 COL1A2 COL1A1
11 skin morphogenesis GO:0043589 9.55 COL1A2 COL1A1
12 collagen biosynthetic process GO:0032964 9.54 COL5A1 COL1A1
13 peptidyl-lysine hydroxylation GO:0017185 9.52 PLOD3 PLOD1
14 supramolecular fiber organization GO:0097435 9.5 COL5A1 COL3A1 B4GALT7
15 eye morphogenesis GO:0048592 9.48 COL5A2 COL5A1
16 negative regulation of endodermal cell differentiation GO:1903225 9.43 COL5A2 COL5A1
17 skin development GO:0043588 9.35 COL5A2 COL5A1 COL3A1 COL1A1 ADAMTS2
18 collagen fibril organization GO:0030199 9.23 TNXB PLOD3 COL5A2 COL5A1 COL3A1 COL1A2

Molecular functions related to Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.14 PLOD3 PLOD1 FKBP14 COL5A2 COL5A1 COL3A1
2 protease binding GO:0002020 9.61 COL3A1 COL1A2 COL1A1
3 SMAD binding GO:0046332 9.56 FLNA COL5A2 COL3A1 COL1A2
4 galactosyltransferase activity GO:0008378 9.48 B4GALT7 B3GALT6
5 L-ascorbic acid binding GO:0031418 9.46 PLOD3 PLOD1
6 platelet-derived growth factor binding GO:0048407 9.46 COL5A1 COL3A1 COL1A2 COL1A1
7 procollagen glucosyltransferase activity GO:0033823 9.37 PLOD3 PLOD1
8 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.35 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
9 procollagen-lysine 5-dioxygenase activity GO:0008475 9.32 PLOD3 PLOD1
10 extracellular matrix structural constituent GO:0005201 9.17 TNXB COL5A2 COL5A1 COL3A1 COL1A2 COL1A1

Sources for Ehlers-Danlos Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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