EDS
MCID: EHL001
MIFTS: 64

Ehlers-Danlos Syndrome (EDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ehlers-Danlos Syndrome

MalaCards integrated aliases for Ehlers-Danlos Syndrome:

Name: Ehlers-Danlos Syndrome 11 42 58 75 28 53 5 41 43 14 38 71 31 33
Eds 19 42 58
Ehlers-Danlos Syndromes 19 75
Cutis Hyperelastica 11 33
Elastic Skin 11 53
Eds - [ehlers-Danlos Syndrome] 33
Ehlers Danlos Syndrome 19
Ehlers Danlos Disease 42
Ed Syndrome 19

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,X-linked recessive 58

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

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


External Ids:

Disease Ontology 11 DOID:13359
ICD9CM 34 756.83
MeSH 43 D004535
NCIt 49 C34568
SNOMED-CT 68 268352002
ICD10 31 Q79.6
MESH via Orphanet 44 D004535
ICD10 via Orphanet 32 Q79.6
UMLS via Orphanet 72 C0013720
Orphanet 58 ORPHA98249
UMLS 71 C0013720

Summaries for Ehlers-Danlos Syndrome

MedlinePlus Genetics: 42 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 identified 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.Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.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 eds, is related to ehlers-danlos syndrome, classic type, 1 and ehlers-danlos syndrome, classic-like, 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 Phospholipase-C Pathway and PI3K-Akt signaling pathway. The drugs Irbesartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include skin, uterus and lung, and related phenotypes are growth/size/body region and cardiovascular system

Orphanet: 58 A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.

MedlinePlus: 41 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.

GARD: 19 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 symptoms of EDS vary by type and range from mildly loose joints to serious complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Genetic changes in a variety of genes may lead to EDS. However, the underlying genetic cause in some families is unknown. Depending on the type, EDS may be inherited in an autosomal dominant or an autosomal recessive manner.

Disease Ontology: 11 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.

Wikipedia: 75 Ehlers-Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders in the current... more...

Related Diseases for Ehlers-Danlos Syndrome

Diseases in the Ehlers-Danlos Syndrome family:

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 861)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 1 33.9 PLOD1 LOC101448202 FKBP14 COL5A2 COL5A1 COL3A1
2 ehlers-danlos syndrome, classic-like 33.9 TNXB LOC106780803
3 ehlers-danlos syndrome, hypermobility type 33.9 TNXB SLC39A13 COL5A1 COL3A1
4 hypermobile ehlers-danlos syndrome 33.8 TNXB PLOD1 LOC101448202 FKBP14 COL5A2 COL5A1
5 ehlers-danlos syndrome, arthrochalasia type, 1 33.8 COL1A2 COL1A1
6 ehlers-danlos syndrome, classic type, 2 33.8 LOC101448202 COL5A2 COL5A1 COL3A1
7 ehlers-danlos syndrome, kyphoscoliotic type, 2 33.7 PLOD1 FKBP14
8 classic ehlers-danlos syndrome 33.7 TNXB LOC101448202 COL5A2 COL5A1 COL1A2 COL1A1
9 ehlers-danlos syndrome, arthrochalasia type, 2 33.6 COL1A2 COL1A1
10 brittle cornea syndrome 1 33.3 ZNF469 PRDM5
11 brittle cornea syndrome 2 33.2 ZNF469 PRDM5
12 connective tissue disease 33.2 TNXB SMAD3 PLOD1 COL5A2 COL5A1 COL3A1
13 aortic aneurysm, familial thoracic 1 32.9 TGFB2 SMAD3 PLOD1 LOC101448202 COL5A2 COL5A1
14 orthostatic intolerance 32.8 TNXB TGFB2 SMAD3 PLOD1 COL5A2 COL5A1
15 postural orthostatic tachycardia syndrome 32.8 TNXB FKBP14 COL5A2 COL5A1
16 loeys-dietz syndrome 32.7 ZNF469 TNXB TGFB2 SMAD3 PLOD1 FKBP14
17 ehlers-danlos/osteogenesis imperfecta syndrome 32.7 COL1A2 COL1A1
18 loeys-dietz syndrome 2 32.4 TGFB2 SMAD3
19 hypermobility syndrome 32.3 TNXB SLC39A13 PLOD1 FKBP14 COL5A2 COL5A1
20 brittle bone disorder 32.0 ZNF469 TNXB SLC39A13 PRDM5 PLOD3 PLOD1
21 caspase 8 deficiency 32.0 TNXB PLOD1 FKBP14 COL5A2 COL5A1 B4GALT7
22 aortic aneurysm, familial thoracic 4 32.0 TGFB2 SMAD3 PLOD1 LOC101448202 COL5A2 COL5A1
23 marfan syndrome 31.9 TGFB2 COL5A2 COL3A1 COL1A2 COL1A1
24 aortic dissection 31.7 TGFB2 SMAD3 COL5A2 COL5A1 COL3A1
25 collagen disease 31.7 ZNF469 TNXB SLC39A13 PLOD1 FKBP14 DSE
26 osteogenesis imperfecta, type i 31.7 COL1A2 COL1A1 ADAMTS2
27 pelvic organ prolapse 31.6 SMAD3 COL3A1 COL1A2 COL1A1 ADAMTS2
28 bladder diverticulum 31.6 PLOD1 FKBP14
29 umbilical hernia 31.4 PLOD1 DSE ADAMTS2
30 keratoconus 31.4 ZNF469 TGFB2 PRDM5 COL5A1 COL1A1
31 carotid artery dissection 31.4 COL5A2 COL3A1
32 osteochondrodysplasia 31.3 ZNF469 SLC39A13 PLOD1 COL5A2 COL5A1 COL3A1
33 osteogenesis imperfecta, type ii 31.3 TNXB COL5A2 COL5A1 COL1A2 COL1A1 ADAMTS2
34 chiari malformation 31.3 COL5A2 COL1A2
35 arterial tortuosity syndrome 31.2 TGFB2 SMAD3 COL5A1 COL3A1
36 aortic valve disease 1 31.2 TGFB2 SMAD3 COL5A2 COL5A1 COL3A1 COL1A1
37 loeys-dietz syndrome 1 31.0 TGFB2 SMAD3
38 patent ductus arteriosus 1 31.0 TGFB2 SMAD3 COL3A1
39 aortic disease 30.8 TGFB2 SMAD3 COL3A1
40 osteogenesis imperfecta, type vi 30.8 COL1A2 COL1A1
41 tricuspid valve prolapse 30.8 PLOD1 FKBP14 COL5A2 COL5A1 COL3A1
42 systemic scleroderma 30.8 SMAD3 COL1A2 COL1A1
43 osteogenesis imperfecta, type iii 30.8 COL1A2 COL1A1 ADAMTS2
44 glaucoma, primary open angle 30.6 ZNF469 TGFB2 COL5A1
45 corneal ectasia 30.5 ZNF469 COL5A1
46 ehlers-danlos syndrome, vascular type 12.2
47 ehlers-danlos syndrome, kyphoscoliotic type, 1 12.1
48 ehlers-danlos syndrome, spondylodysplastic type, 1 12.1
49 ehlers-danlos syndrome, spondylodysplastic type, 2 12.0
50 ehlers-danlos syndrome, dermatosparaxis type 12.0

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 growth/size/body region MP:0005378 10.18 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2 cardiovascular system MP:0005385 10.02 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
3 skeleton MP:0005390 9.81 ADAMTS2 COL1A1 COL1A2 COL5A2 PLOD3 PRDM5
4 respiratory system MP:0005388 9.8 ADAMTS2 C1R COL1A1 COL3A1 COL5A2 PLOD3
5 vision/eye MP:0005391 9.73 ADAMTS2 C1R COL1A1 COL1A2 COL5A1 COL5A2
6 integument MP:0010771 9.47 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

Drugs & Therapeutics for Ehlers-Danlos Syndrome

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
2
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
3
Celiprolol Approved, Investigational Phase 3 56980-93-9 2663
4
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
5
Angiotensinogen Phase 3 16133225
6 Angiotensin Receptor Antagonists Phase 3
7 Angiotensin II Type 1 Receptor Blockers Phase 3
8 Giapreza Phase 3
9 Antihypertensive Agents Phase 3
10 Adrenergic beta-Antagonists Phase 3
11 Adrenergic beta-1 Receptor Antagonists Phase 3
12 Adrenergic Antagonists Phase 3
13 Adrenergic Agents Phase 3
14 Neurotransmitter Agents Phase 3
15 Vasodilator Agents Phase 3
16 Sympathomimetics Phase 3
17 Anti-Arrhythmia Agents Phase 3
18 Sodium Channel Blockers Phase 3
19 Anesthetics, Local Phase 3
20 Anesthetics Phase 3
21 Diuretics, Potassium Sparing Phase 3
22 Pharmaceutical Solutions Phase 3
23
Droxidopa Approved, Investigational Phase 1, Phase 2 23651-95-8 443940 92974
24
Oxytocin Approved, Vet_approved Phase 1, Phase 2 50-56-6 439302 53477758
25 Antiparkinson Agents Phase 1, Phase 2
26
Acetylcholine Approved, Investigational 51-84-3 187
27
Ethanol Approved 64-17-5 702
28
Mecasermin Approved, Investigational 68562-41-4
29
Thrombin Approved, Investigational
30
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
31
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
32
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
33 Folate
34 Vitamins
35 Vitamin B9
36 Trace Elements
37 Photosensitizing Agents
38
Vitamin B2
39 Vitamin B Complex
40 Dermatologic Agents
41 Micronutrients
42 Anti-Inflammatory Agents
43 Analgesics, Opioid
44 Liver Extracts
45 Immunoglobulins
46 Antibodies
47 Hemostatics

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 Prevention of Vascular Complications by BetaBlocker Treatment in Vascular Ehlers-Danlos Syndrome Completed NCT00190411 Phase 4 celiprolol;Control
2 Local Anesthetic Response in Ehlers-Danlos Syndrome (EDS) and Healthy Volunteers Recruiting NCT05603741 Phase 4 0.9% Sodium Chloride Injection;Lidocaine Injection 2%
3 Impact of Oxygen Therapy on Fatigue in Patients With Hypermobile-type Ehlers-Danlos Syndrome: a Randomised Double-blind Placebo-controlled Study Recruiting NCT04890431 Phase 4 Oxygen;Placebo
4 Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome: a Double Blind, Randomized, Placebo Controlled, Multicenter Trial. Completed NCT02597361 Phase 3 Irbesartan;Placebo
5 A Phase 3 Randomized, Double-Blind, Decentralized Clinical Trial to Compare the Efficacy of Celiprolol to Placebo in the Treatment of Patients With COL3A1-Positive Vascular Ehlers-Danlos Syndrome Recruiting NCT05432466 Phase 3 ACER-002 (celiprolol) 200 mg BID;Placebo BID
6 The Use of Ultrasound-Guided Dextrose Prolotherapy in Low Back Pain in Patients With Hypermobile-Type, Ehlers-Danlos Syndrome Not yet recruiting NCT05279937 Phase 3 Dextrose 50% Intravenous Solution;Lidocaine 1% Injectable Solution
7 A Multicenter, Randomized, Double-blind, Placebo-controlled Study of Enzastaurin for the Prevention of Arterial Events in Patients With Vascular Ehlers-Danlos Syndrome (vEDS) Confirmed With COL3A1 Mutations, Followed by an Open Label Extension (OLE) Suspended NCT05463679 Phase 3 Enzastaurin;Placebo
8 A Pilot Study of Mind-Body Therapy for Chronic Pain in Ehlers-Danlos Syndrome Completed NCT00001966 Phase 2 Mind-body therapy
9 Phase I/II Study of NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Adults With Occipital Horn Syndrome: Double-blind Placebo-controlled Randomized Crossover Clinical Trial Recruiting NCT04977388 Phase 1, Phase 2 Droxidopa
10 Oxytocin Treatment for Chronic Pain in Hypermobile Ehlers-Danlos Syndrome Enrolling by invitation NCT05405257 Phase 1, Phase 2 Oxytocin
11 Compression Garments Effects on Postural Balance of Patients With Hypermobility Type of Ehlers-danlos Syndrome, a Prospective Study on 40 Patients Unknown status NCT03359135
12 Effectiveness of Wearing a Compression Garment (SED CICATREX® Model) for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Unknown status NCT02144532
13 Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome Unknown status NCT03596437
14 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Unknown status NCT03575182
15 Validity of Somatosensori Remediation for Postural Control in the Treatment of Ehlers-Danlos Syndrome Hypermobility Type (hEDS) Unknown status NCT04020107
16 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Riboflavin
17 Origins and Impact of EDS in Connective Tissues and Skin Unknown status NCT02721797
18 Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome Completed NCT02712060
19 Effects of a Multidisciplinary Outpatient Rehabilitation Program on Physical Capacity and Quality of Life in Patients With Ehlers-Danlos Syndrome. Completed NCT04680793
20 Evaluation of an Education Program for Patients With Hypermobility Type Ehlers-Danlos Syndrome Completed NCT02817490
21 Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome Completed NCT02435745
22 Evaluation of a Cohort of Patients With Ehlers-Danlos Syndrome Treated With Orthopedic Surgery (SED-eval) Completed NCT05137379
23 Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome Completed NCT02165085
24 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
25 Lung Volume Perception and Impact of a Cognitive Task on Ventilation in Healthy Subjects and Subjects With Hypermobile Ehlers-Danlos Syndrome. Completed NCT05000151
26 A Retrospective, Observational, Multicenter, Study to Collect Clinical Safety and Performance Data of POLYTHESE® Vascular Prostheses Completed NCT05516043
27 Integrative Medicine for Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos (EDS) Syndromes: A Mixed-methods Feasibility Study Completed NCT04734041
28 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Completed NCT02985710
29 Opioid-Free Intravenous Anesthesia for Patients With Joint Hypermobility Syndrome Undergoing Craneo-Cervical Fixation: A Case-series Study Focused on Anti-hyperalgesic Approach Completed NCT04437589
30 Establishment of Local Arterial Stiffness Normal Values (Carotid and Femoral) on Healthy Volunteers Using Supersonic Shear Imaging Completed NCT01096264
31 Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue Completed NCT00270686
32 Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders Completed NCT00001641
33 Standing Cognition and Co-morbidities of POTS Evaluation Completed NCT03602482
34 Vascular Fundus Changes in Patients With High Probability of CCSVI (Chronic Cerebrospinal Venous Insufficiency) Completed NCT01356134
35 IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos Patients Completed NCT01446783 mecasermin;Saline
36 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
37 Impact Study on Cerecare Compression Garments in the Treatment of Ehlers-Danlos Syndromes Completed NCT03451188
38 Measuring Central Sensitization and Physical Activity in Adolescents With Hypermobility Spectrum Disorder or Hypermobile Ehlers-Danlos Syndrome Recruiting NCT05633225
39 Investigation of Light Exposure on Pain Severity and Quality of Life in Individuals With Hypermobile Ehlers-Danlos Syndrome: A Pilot Study Recruiting NCT05561270
40 Registry of Ehlers-Danlos Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample Recruiting NCT04133272
41 Comprehensive Assessment of Nutrition & Dietary Intervention in Hypermobile Ehlers Danlos Syndrome (hEDS/HSD): a Personalised Approach: Phase 2 & 3 Recruiting NCT05148039
42 Hypermobile Ehlers-Danlos Syndrome: Efficacy of Non-invasive Vagal Nerve Stimulation and Effects on Brain-Gut Physiology Recruiting NCT05212129
43 Evaluation of the Effect of Custom Compression Garments on Standing Static Balance in Ehlers Danlos Syndrome Recruiting NCT03986229
44 Evaluation and Management of Dyspnea in Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD) Recruiting NCT04972565
45 Retuning the Nervous System in Youth With Chronic Pain Recruiting NCT03686748 Early Phase 1
46 Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices Recruiting NCT02050113
47 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
48 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
49 Face Study of the Effects of Needling Using the Straberi Epistamp for the Improvement of Fine Lines and Skin Laxity. Recruiting NCT04742803
50 Determine the Causative Genetic Variations in Patients With Ehlers-Danlos Syndrome Active, not recruiting NCT03093493

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 28

Anatomical Context for Ehlers-Danlos Syndrome

Organs/tissues related to Ehlers-Danlos Syndrome:

MalaCards : Skin, Uterus, Lung, Eye, Bone, Heart, Brain

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

(show top 50) (show all 3888)
# Title Authors PMID Year
1
Resource utilization and multidisciplinary care needs for patients with Ehlers-Danlos syndrome. 62 41
36151850 2022
2
Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers-Danlos Syndrome. 62 41
36360214 2022
3
The Internet Knows More Than My Physician: Qualitative Interview Study of People With Rare Diseases and How They Use Online Support Groups. 62 41
36006679 2022
4
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. 5
26402641 2016
5
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 53 62
20503305 2010
6
Tenascin-X increases the stiffness of collagen gels without affecting fibrillogenesis. 53 62
20089348 2010
7
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. 53 62
19455184 2009
8
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 53 62
19639654 2009
9
Ehlers-Danlos type IV in pregnancy with a history of myocardial infarction. 53 62
19751346 2009
10
Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections. 53 62
19477391 2009
11
Determination of beta4-galactosyltransferase-7 activity using high-performance liquid chromatography-electrospray ionization tandem mass spectrometry. 53 62
19133250 2009
12
Crystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetries. 53 62
18805790 2008
13
Vascular type of Ehlers-Danlos syndrome. 53 62
19023163 2008
14
Pseudoaneurysm of the peroneal artery: presentation of Ehlers-Danlos syndrome type IV. 53 62
18485758 2008
15
FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts. 53 62
18405669 2008
16
Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice. 53 62
18335242 2008
17
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. 53 62
18158310 2008
18
Natural variation in four human collagen genes across an ethnically diverse population. 53 62
18272325 2008
19
Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. 53 62
18284404 2008
20
A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections. 53 62
18389341 2008
21
Novel localization of tenascin-X in adult mouse leptomeninges and choroid plexus. 53 62
18595676 2008
22
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. 53 62
17702048 2007
23
The glycosaminoglycan chain of decorin plays an important role in collagen fibril formation at the early stages of fibrillogenesis. 53 62
17651433 2007
24
Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome. 53 62
17487505 2007
25
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. 53 62
17206620 2007
26
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. 53 62
17211858 2007
27
Interactions of human tenascin-X domains with dermal extracellular matrix molecules. 53 62
17033827 2007
28
Wound healing in tenascin-X deficient mice suggests that tenascin-X is involved in matrix maturation rather than matrix deposition. 53 62
17453911 2007
29
A model of tenascin-X integration within the collagenous network. 53 62
17078949 2006
30
A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations. 53 62
16863833 2006
31
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. 53 62
16816023 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). 53 62
16583246 2006
33
Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. 53 62
16492673 2006
34
Abdominal aortic aneurysm is associated with high serum levels of tenascin-X and decreased aneurysmal tissue tenascin-X. 53 62
16567571 2006
35
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. 53 62
16407265 2006
36
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 53 62
15994863 2006
37
Dermal connective tissue development in mice: an essential role for tenascin-X. 53 62
16331473 2006
38
Structural abnormalities of the cornea and lid resulting from collagen V mutations. 53 62
16431952 2006
39
Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome. 53 62
16937863 2006
40
Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. 53 62
16278880 2005
41
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). 53 62
15979919 2005
42
Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. 53 62
15793839 2005
43
Caffey disease: an unlikely collagenopathy. 53 62
15864344 2005
44
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 53 62
15666309 2005
45
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. 53 62
15859521 2005
46
Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components. 53 62
15558324 2005
47
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 53 62
15668422 2005
48
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). 53 62
15389701 2004
49
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. 53 62
15373769 2004
50
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. 53 62
15365990 2004

Variations for Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Ehlers-Danlos Syndrome:

5 (show top 50) (show all 1190)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRDM5 NM_018699.4(PRDM5):c.974del (p.Cys325fs) DEL Pathogenic
31114 rs766853150 GRCh37: 4:121720872-121720872
GRCh38: 4:120799717-120799717
2 COL3A1 NM_000090.4(COL3A1):c.2044G>A (p.Glu682Lys) SNV Pathogenic
1072145 GRCh37: 2:189864032-189864032
GRCh38: 2:188999306-188999306
3 COL5A1 NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter) SNV Pathogenic
17191 rs121912933 GRCh37: 9:137666747-137666747
GRCh38: 9:134774901-134774901
4 COL1A2 NM_000089.4(COL1A2):c.279+1G>A SNV Pathogenic
17251 rs67398234 GRCh37: 7:94030933-94030933
GRCh38: 7:94401621-94401621
5 PLOD1 NM_000302.4(PLOD1):c.1362del (p.Tyr455fs) DEL Pathogenic
1702256 GRCh37: 1:12024734-12024734
GRCh38: 1:11964677-11964677
6 TGFB2 NM_003238.6(TGFB2):c.1041del (p.Gly348fs) DEL Pathogenic
1702284 GRCh37: 1:218610793-218610793
GRCh38: 1:218437451-218437451
7 COL1A1 NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser) SNV Pathogenic
265433 rs67507747 GRCh37: 17:48271393-48271393
GRCh38: 17:50194032-50194032
8 COL5A1, LOC101448202 NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs) DUP Pathogenic
430502 rs1131691996 GRCh37: 9:137715308-137715309
GRCh38: 9:134823462-134823463
9 COL1A1 NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) SNV Pathogenic
17343 rs72645347 GRCh37: 17:48273698-48273698
GRCh38: 17:50196337-50196337
10 COL1A2 NM_000089.4(COL1A2):c.226-2A>G SNV Pathogenic
17270 rs72656355 GRCh37: 7:94030877-94030877
GRCh38: 7:94401565-94401565
11 SMAD3 NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) SNV Pathogenic
30306 rs387906850 GRCh37: 15:67473779-67473779
GRCh38: 15:67181441-67181441
12 PLOD1 NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) SNV Pathogenic
14370 rs121913552 GRCh37: 1:12025599-12025599
GRCh38: 1:11965542-11965542
13 COL5A1 NM_000093.5(COL5A1):c.2034+1G>A SNV Pathogenic
281486 rs886042173 GRCh37: 9:137655584-137655584
GRCh38: 9:134763738-134763738
14 COL5A1 NM_000093.5(COL5A1):c.2952+2_2952+3del MICROSAT Pathogenic
662439 rs1588562135 GRCh37: 9:137690307-137690308
GRCh38: 9:134798461-134798462
15 COL1A2 NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys) SNV Likely Pathogenic
848804 rs1792298693 GRCh37: 7:94056590-94056590
GRCh38: 7:94427278-94427278
16 ZNF469 NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter) SNV Likely Pathogenic
387713 rs1004428835 GRCh37: 16:88493897-88493897
GRCh38: 16:88427489-88427489
17 TNXB NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs) DUP Likely Pathogenic
1702327 GRCh37: 6:32049244-32049245
GRCh38: 6:32081467-32081468
18 COL5A1, LOC101448202 NM_000093.4(COL5A1):c.4646dupG DUP Likely Pathogenic
1702218 GRCh37: 9:137715260-137715261
GRCh38: 9:134823414-134823415
19 COL5A1 NM_000093.5(COL5A1):c.655-2A>T SNV Likely Pathogenic
1702222 GRCh37: 9:137619110-137619110
GRCh38: 9:134727264-134727264
20 ZNF469 NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) DEL Likely Pathogenic
872522 rs756543273 GRCh37: 16:88504202-88504202
GRCh38: 16:88437794-88437794
21 PLOD1 NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter) SNV Likely Pathogenic
659390 rs1439043436 GRCh37: 1:12032932-12032932
GRCh38: 1:11972875-11972875
22 COL3A1 NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys) SNV Likely Pathogenic
529313 rs1553507432 GRCh37: 2:189854852-189854852
GRCh38: 2:188990126-188990126
23 TNXB NM_001365276.2(TNXB):c.4957C>T (p.Arg1653Ter) SNV Likely Pathogenic
450861 rs201184519 GRCh37: 6:32039800-32039800
GRCh38: 6:32072023-32072023
24 TNXB NM_001365276.2(TNXB):c.9511G>T (p.Glu3171Ter) SNV Likely Pathogenic
1702361 GRCh37: 6:32017293-32017293
GRCh38: 6:32049516-32049516
25 TNXB NM_001365276.2(TNXB):c.9668dup (p.Leu3224fs) DUP Likely Pathogenic
1702363 GRCh37: 6:32017135-32017136
GRCh38: 6:32049358-32049359
26 SMAD3 NM_005902.4(SMAD3):c.594del (p.His198fs) DEL Likely Pathogenic
1702283 GRCh37: 15:67459178-67459178
GRCh38: 15:67166840-67166840
27 TNXB NM_001365276.2(TNXB):c.9497A>T (p.Glu3166Val) SNV Likely Pathogenic
1702359 GRCh37: 6:32017307-32017307
GRCh38: 6:32049530-32049530
28 TNXB NM_001365276.2(TNXB):c.9498_9499del (p.Glu3166fs) DEL Likely Pathogenic
1702360 GRCh37: 6:32017305-32017306
GRCh38: 6:32049528-32049529
29 TGFBR2 NM_003242.6(TGFBR2):c.1582C>G (p.Arg528Gly) SNV Likely Pathogenic
1702293 GRCh37: 3:30732969-30732969
GRCh38: 3:30691477-30691477
30 TGFBR2 NM_003242.6(TGFBR2):c.363C>A (p.Cys121Ter) SNV Likely Pathogenic
1702294 GRCh37: 3:30691861-30691861
GRCh38: 3:30650369-30650369
31 LOC106780803, TNXB NM_001365276.2(TNXB):c.10623_10624del (p.Pro3542fs) MICROSAT Likely Pathogenic
1702298 GRCh37: 6:32013086-32013087
GRCh38: 6:32045309-32045310
32 TNXB NM_001365276.2(TNXB):c.8247del (p.Asp2750fs) DEL Likely Pathogenic
1702352 GRCh37: 6:32023848-32023848
GRCh38: 6:32056071-32056071
33 COL3A1 NM_000090.4(COL3A1):c.1322del (p.Gly441fs) DEL Likely Pathogenic
973734 rs1688259777 GRCh37: 2:189859294-189859294
GRCh38: 2:188994568-188994568
34 COL1A2 NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser) SNV Likely Pathogenic
1702191 GRCh37: 7:94054492-94054492
GRCh38: 7:94425180-94425180
35 COL3A1 NM_000090.4(COL3A1):c.2122G>A (p.Gly708Ser) SNV Likely Pathogenic
1702196 GRCh37: 2:189864196-189864196
GRCh38: 2:188999470-188999470
36 COL3A1 NM_000090.4(COL3A1):c.2815G>C (p.Gly939Arg) SNV Likely Pathogenic
1702197 GRCh37: 2:189868861-189868861
GRCh38: 2:189004135-189004135
37 COL3A1 NM_000090.4(COL3A1):c.971G>T (p.Gly324Val) SNV Likely Pathogenic
1702202 GRCh37: 2:189856929-189856929
GRCh38: 2:188992203-188992203
38 COL5A1, LOC101448202 NM_000093.5(COL5A1):c.5031del (p.Ser1678fs) DEL Likely Pathogenic
1702219 GRCh37: 9:137717709-137717709
GRCh38: 9:134825863-134825863
39 COL5A1 NM_000093.5(COL5A1):c.3259G>T (p.Gly1087Ter) SNV Likely Pathogenic
1702209 GRCh37: 9:137698035-137698035
GRCh38: 9:134806189-134806189
40 COL5A1 NM_000093.5(COL5A1):c.3809_3810dup (p.Pro1271fs) DUP Likely Pathogenic
1702212 GRCh37: 9:137704514-137704515
GRCh38: 9:134812668-134812669
41 COL5A1 NM_000093.5(COL5A1):c.4014+1G>A SNV Likely Pathogenic
1702213 GRCh37: 9:137706751-137706751
GRCh38: 9:134814905-134814905
42 FBN2 NM_001999.4(FBN2):c.1723+1G>T SNV Likely Pathogenic
1702240 GRCh37: 5:127714463-127714463
GRCh38: 5:128378770-128378770
43 PLOD1 NM_000302.4(PLOD1):c.979dup (p.Gln327fs) DUP Likely Pathogenic
1702263 GRCh37: 1:12020705-12020706
GRCh38: 1:11960648-11960649
44 COL1A2 NM_000089.4(COL1A2):c.1404+1G>A SNV Likely Pathogenic
17275 rs67162110 GRCh37: 7:94041434-94041434
GRCh38: 7:94412122-94412122
45 C1R NM_001733.7(C1R):c.265T>C (p.Cys89Arg) SNV Likely Pathogenic
972707 rs1938242419 GRCh37: 12:7242811-7242811
GRCh38: 12:7090215-7090215
46 COL1A2 NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser) SNV Likely Pathogenic
1343353 GRCh37: 7:94054456-94054456
GRCh38: 7:94425144-94425144
47 COL1A2 NM_000089.4(COL1A2):c.486+2T>G SNV Likely Pathogenic
1701998 GRCh37: 7:94034566-94034566
GRCh38: 7:94405254-94405254
48 COL3A1 NM_000090.4(COL3A1):c.582+1G>C SNV Likely Pathogenic
101206 rs587779508 GRCh37: 2:189852861-189852861
GRCh38: 2:188988135-188988135
49 COL3A1 NM_000090.4(COL3A1):c.2113G>A (p.Gly705Arg) SNV Likely Pathogenic
101346 rs587779623 GRCh37: 2:189864101-189864101
GRCh38: 2:188999375-188999375
50 ZNF469 NM_001367624.2(ZNF469):c.8806G>T (p.Glu2936Ter) SNV Likely Pathogenic
1702158 GRCh37: 16:88502684-88502684
GRCh38: 16:88436276-88436276

Copy number variations for Ehlers-Danlos Syndrome from CNVD:

6
# 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 directly related to Ehlers-Danlos Syndrome:

# Pathway Source
1 Defective B3GALT6 causes EDSP2 and SEMDJL1 Reactome 66
2 Defective B4GALT7 causes EDS, progeroid type Reactome 66
3 Defective CHST14 causes EDS, musculocontractural type Reactome 66

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

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TGFB2
2
Show member pathways
12.84 TNXB COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
3 12.72 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
4
Show member pathways
12.68 PLOD3 PLOD1 COL5A2 COL5A1 COL3A1 COL1A2
5
Show member pathways
12.31 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6 12.17 TNXB COL5A2 COL1A2 COL1A1
7
Show member pathways
12.08 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
8
Show member pathways
11.97 TNXB TGFB2 PLOD3 PLOD1 COL5A2 COL5A1
9 11.94 COL3A1 COL1A2 COL1A1
10 11.83 SMAD3 COL3A1 COL1A1
11
Show member pathways
11.82 COL5A2 COL5A1 COL3A1
12 11.78 SMAD3 COL1A2 COL1A1
13
Show member pathways
11.74 COL3A1 COL1A2 COL1A1
14
Show member pathways
11.72 COL5A2 COL5A1 COL3A1
15
Show member pathways
11.72 TNXB TGFB2 COL5A2 COL5A1 COL3A1 COL1A2
16 11.65 TGFB2 SMAD3 COL1A2 COL1A1
17 11.55 COL3A1 COL1A2 COL1A1
18 11.48 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
19 11.46 TGFB2 SMAD3 COL1A2 COL1A1
20 11.45 COL3A1 COL1A2 COL1A1
21 11.24 COL3A1 COL1A2 COL1A1
22 11.23 TNXB COL5A2 COL5A1 COL3A1 COL1A2
23 11.22 PLOD1 COL1A2 COL1A1 ADAMTS2
24 11.15 SMAD3 COL1A2 COL1A1
25 11.03 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
26 11.02 COL1A2 COL1A1
27 10.92 TGFB2 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
28 10.9 COL5A1 COL3A1 COL1A1

GO Terms for Ehlers-Danlos Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 10.1 PLOD3 FKBP14 COL5A2 COL5A1 COL3A1 COL1A2
2 extracellular matrix GO:0031012 9.8 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
3 collagen type XI trimer GO:0005592 9.71 COL5A2 COL5A1
4 collagen type V trimer GO:0005588 9.67 COL5A2 COL5A1
5 collagen type I trimer GO:0005584 9.62 COL1A2 COL1A1
6 collagen-containing extracellular matrix GO:0062023 9.58 TNXB TGFB2 PLOD3 COL5A2 COL5A1 COL3A1
7 collagen trimer GO:0005581 9.55 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 10.11 COL1A2 COL3A1 SMAD3 TGFB2
2 wound healing GO:0042060 10.1 TGFB2 SMAD3 COL3A1 COL1A1
3 skeletal system development GO:0001501 10.09 TGFB2 SMAD3 COL5A2 COL1A2 COL1A1
4 cellular response to amino acid stimulus GO:0071230 10.06 COL5A2 COL3A1 COL1A2 COL1A1
5 blood vessel development GO:0001568 9.91 COL5A1 COL3A1 COL1A2 COL1A1
6 elastic fiber assembly GO:0048251 9.88 TNXB COL3A1
7 supramolecular fiber organization GO:0097435 9.88 B4GALT7 COL3A1 COL5A1
8 collagen biosynthetic process GO:0032964 9.87 COL5A1 COL1A1
9 peptidyl-lysine hydroxylation GO:0017185 9.86 PLOD3 PLOD1
10 regulation of extracellular matrix organization GO:1903053 9.85 ZNF469 PRDM5
11 skin development GO:0043588 9.85 ADAMTS2 COL1A1 COL3A1 COL5A1 COL5A2
12 eye morphogenesis GO:0048592 9.84 COL5A2 COL5A1
13 regulation of transforming growth factor beta2 production GO:0032909 9.83 TGFB2 SMAD3
14 collagen metabolic process GO:0032963 9.8 TNXB PLOD3 COL1A2
15 positive regulation of epithelial to mesenchymal transition GO:0010718 9.8 TNXB TGFB2 SMAD3 COL1A1
16 extracellular matrix organization GO:0030198 9.8 TNXB COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
17 negative regulation of endodermal cell differentiation GO:1903225 9.78 COL5A2 COL5A1
18 anatomical structure development GO:0048856 9.76 COL5A2 COL3A1 COL1A1
19 collagen fibril organization GO:0030199 9.58 TNXB TGFB2 PLOD3 COL5A2 COL5A1 COL3A1

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 10.43 ZNF469 SMAD3 PRDM5 PLOD3 PLOD1 FKBP14
2 extracellular matrix structural constituent GO:0005201 9.93 TNXB COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
3 SMAD binding GO:0046332 9.8 COL1A2 COL3A1 COL5A2 SMAD3
4 procollagen-lysine 5-dioxygenase activity GO:0008475 9.71 PLOD3 PLOD1
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.65 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
6 procollagen glucosyltransferase activity GO:0033823 9.5 PLOD3 PLOD1
7 platelet-derived growth factor binding GO:0048407 9.23 COL5A1 COL3A1 COL1A2 COL1A1

Sources for Ehlers-Danlos Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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