EDS
MCID: EHL001
MIFTS: 62

Ehlers-Danlos Syndrome (EDS)

Categories: Blood diseases, 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 77 26 38 30 56 6 44 45 15 74
Elastic Skin 12 56
Eds 54 26
Ehlers-Danlos Syndromes 54
Syndrome, Ehlers-Danlos 41
Ehlers Danlos Syndrome 54
Ehlers Danlos Disease 26
Cutis Hyperelastica 12
Ed Syndrome 54

Classifications:



External Ids:

Disease Ontology 12 DOID:13359
KEGG 38 H00802
ICD9CM 36 756.83
MeSH 45 D004535
NCIt 51 C34568
SNOMED-CT 69 2300005
ICD10 34 Q79.6
UMLS 74 C0013720

Summaries for Ehlers-Danlos Syndrome

NIH Rare Diseases : 54 Ehlers-Danlos syndromes (EDS) are a group of inheritedconnective 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/  

MalaCards based summary : Ehlers-Danlos Syndrome, also known as elastic skin, is related to ehlers-danlos syndrome, vascular 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 Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and colon, 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.

Genetics Home Reference : 26 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.

MedlinePlus : 44 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.

Wikipedia : 77 Ehlers–Danlos syndromes (EDS) are a group of genetic connective tissue disorders. Symptoms may include... more...

Related Diseases for Ehlers-Danlos Syndrome

Diseases in the Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Type V Type I Ehlers-Danlos Syndrome
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Type 7b

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

(show top 50) (show all 554)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, vascular type 35.1 COL3A1 COL5A1
2 ehlers-danlos syndrome, classic type, 2 34.7 COL1A1 COL3A1 COL5A1 COL5A2
3 spondylodysplastic ehlers-danlos syndrome 34.5 B3GALT6 B4GALT7
4 ehlers-danlos syndrome, classic type, 1 34.5 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5 hypermobile ehlers-danlos syndrome 34.2 COL1A1 FKBP14 PLOD1
6 ehlers-danlos syndrome progeroid type 34.2 B3GALT6 B4GALT7
7 classic ehlers-danlos syndrome 34.0 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
8 musculocontractural ehlers-danlos syndrome 33.9 CHST14 DSE
9 brittle cornea syndrome 2 33.7 CHST14 COL5A1 PLOD1
10 connective tissue disease 31.8 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 PLOD1
11 hypermobility syndrome 31.5 C1R COL3A1 COL5A1 TNXB
12 marfan syndrome 31.2 COL1A2 COL3A1 COL5A2
13 brittle bone disorder 31.2 COL1A1 COL1A2 COL3A1
14 ehlers-danlos/osteogenesis imperfecta syndrome 31.2 COL1A1 COL1A2
15 pelvic organ prolapse 30.6 COL1A1 COL3A1 TNXB
16 hypomelanosis of ito 30.6 COL5A1 PLOD1
17 cervical incompetence 30.6 COL5A2 PLOD1
18 scoliosis 30.3 COL1A1 COL1A2 PLOD1
19 otosclerosis 30.3 COL1A1 COL1A2
20 congenital contractures 30.2 CHST14 PLOD1
21 ehlers-danlos syndrome, classic-like 13.0
22 ehlers-danlos syndrome, hypermobility type 13.0
23 ehlers-danlos syndrome, periodontal type, 1 13.0
24 ehlers-danlos syndrome, kyphoscoliotic type, 2 13.0
25 ehlers-danlos syndrome, dermatosparaxis type 13.0
26 ehlers-danlos syndrome, cardiac valvular type 13.0
27 ehlers-danlos syndrome, arthrochalasia type, 1 13.0
28 ehlers-danlos syndrome, kyphoscoliotic type, 1 12.9
29 ehlers-danlos syndrome, spondylodysplastic type, 3 12.9
30 ehlers-danlos syndrome, arthrochalasia type, 2 12.9
31 ehlers-danlos syndrome, musculocontractural type, 1 12.9
32 ehlers-danlos syndrome, spondylodysplastic type, 1 12.8
33 kyphoscoliotic ehlers-danlos syndrome 12.8
34 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality 12.8
35 ehlers-danlos syndrome, musculocontractural type, 2 12.8
36 ehlers-danlos syndrome, spondylodysplastic type, 2 12.8
37 ehlers-danlos syndrome, periodontal type, 2 12.7
38 ehlers-danlos syndrome, classic-like, 2 12.7
39 ehlers-danlos syndrome, type v 12.7
40 arthrochalasia ehlers-danlos syndrome 12.6
41 polymicrogyria with or without vascular-type ehlers-danlos syndrome 12.6
42 periodontal ehlers-danlos syndrome 12.6
43 plod1-related kyphoscoliotic ehlers-danlos syndrome 12.6
44 ehlers-danlos syndrome, arthrochalasis type 12.6
45 ehlers-danlos syndrome, vascular-like type 12.4
46 ehlers-danlos syndrome type 7b 12.4
47 type i ehlers-danlos syndrome 12.4
48 ehlers-danlos syndrome, autosomal dominant, type unspecified 12.4
49 ehlers-danlos syndrome, beasley-cohen type 12.4
50 autosomal recessive type iv ehlers-danlos syndrome 12.4

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.92 CHST14 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2 growth/size/body region MP:0005378 9.91 ADAMTS2 CHST14 COL1A1 COL1A2 COL3A1 COL5A1
3 integument MP:0010771 9.9 ADAMTS2 CHST14 COL1A1 COL1A2 COL3A1 COL5A1
4 limbs/digits/tail MP:0005371 9.26 CHST14 COL1A1 COL1A2 DSE
5 skeleton MP:0005390 9.17 ADAMTS2 CHST14 COL1A1 COL1A2 COL5A2 PLOD1

Drugs & Therapeutics for Ehlers-Danlos Syndrome

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celiprolol Approved, Investigational Phase 4 56980-93-9
2 Adrenergic Antagonists Phase 4
3 Vasodilator Agents Phase 4
4 Adrenergic beta-Antagonists Phase 4
5 Peripheral Nervous System Agents Phase 4
6 Anti-Arrhythmia Agents Phase 4
7 Adrenergic beta-1 Receptor Antagonists Phase 4
8 Autonomic Agents Phase 4
9 Neurotransmitter Agents Phase 4
10 Sympathomimetics Phase 4
11 Adrenergic Agents Phase 4
12 Antihypertensive Agents Phase 4,Phase 3
13
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
14
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
15
Copper Approved, Investigational Phase 3 7440-50-8 27099
16
Serine Approved, Nutraceutical Phase 3 56-45-1 5951
17
Histidine Approved, Nutraceutical Phase 3 71-00-1 6274
18 Nutrients Phase 3,Not Applicable
19 Trace Elements Phase 3,Not Applicable
20 Micronutrients Phase 3,Not Applicable
21 Giapreza Phase 3
22 Serine Proteinase Inhibitors Phase 3
23 Angiotensinogen Phase 3
24 Angiotensin II Type 1 Receptor Blockers Phase 3
25
protease inhibitors Phase 3
26 Vasoconstrictor Agents Phase 3
27 Angiotensin Receptor Antagonists Phase 3
28 HIV Protease Inhibitors Phase 3
29 Angiotensin II Type 2 Receptor Blockers Phase 3
30
Mecasermin Approved, Investigational Not Applicable 68562-41-4
31
Parathyroid hormone Approved, Investigational Not Applicable 9002-64-6
32
Petrolatum Approved, Investigational Not Applicable 8009-03-8
33
Calcium polycarbophil Approved Not Applicable 126040-58-2
34
Ethanol Approved Not Applicable 64-17-5 702
35
Acetylcholine Approved, Investigational Not Applicable 51-84-3 187
36
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
37
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 83-88-5 493570
38 Folate Not Applicable
39 Vitamin B9 Not Applicable
40 Dermatologic Agents Not Applicable
41 Photosensitizing Agents Not Applicable
42 Vitamins Not Applicable
43 Vitamin B Complex Not Applicable
44 Vitamin B2 Not Applicable
45 Psyllium Not Applicable
46 Immunoglobulins
47 Antibodies
48 Immunologic Factors

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4 celiprolol;Control
2 Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome (ARCADE) Recruiting NCT02597361 Phase 3 Irbesartan;Placebo
3 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Active, not recruiting NCT00811785 Phase 3 Copper Histidine
4 Mind-Body Therapy for Pain in Ehlers-Danlos Syndrome Completed NCT00001966 Phase 2 Mind-body therapy
5 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Not Applicable Riboflavin
6 Development of a Blood Test for Marfan Syndrome Unknown status NCT02148900
7 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Unknown status NCT02854098
8 Patient Education Program and Ehlers-Danlos Syndrome Completed NCT02817490
9 Biomarkers in Vascular Ehlers-Danlos Syndrome Completed NCT02165085
10 Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome Completed NCT02435745
11 Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome Completed NCT02712060
12 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life Completed NCT01367977
13 Vascular Fundus Changes in Patients With High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI) Completed NCT01356134
14 IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos Patients Completed NCT01446783 Not Applicable mecasermin;Saline
15 Non-Invasive Quantitative Imaging of Human Local Arterial Wall Elasticity Using Supersonic Shear Imaging Completed NCT01096264 Not Applicable
16 Studies of Heritable Disorders of Connective Tissue Completed NCT00270686
17 Study of Heritable Connective Tissue Disorders Completed NCT00001641
18 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
19 Compare the Aesthetic Effect of Different Thyroidectomies Completed NCT03239769 Not Applicable
20 Effects of Different Support Surfaces on the Properties Skin After Loading Completed NCT02930590 Not Applicable
21 Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome Recruiting NCT03596437 Not Applicable
22 Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Recruiting NCT02144532 Not Applicable
23 Genetics of Ehlers-Danlos Syndrome Recruiting NCT03093493
24 Impact Study on Cerecare Compression Garments in the Treatment of Ehlers-Danlos Syndromes Recruiting NCT03451188
25 Prevalence of FODMAP Intolerance and JHS in FGID and Association With Microbiome, Dyssynergic Defecation and Dietary Intervention Recruiting NCT03460613 Not Applicable
26 Concentration and Attentional Deficits in POTS and Other Autonomic Neuropathies Recruiting NCT03681080 Not Applicable
27 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710 Not Applicable
28 Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging Recruiting NCT02538822 Not Applicable
29 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
30 Two Point Discrimination Recruiting NCT03686748 Early Phase 1
31 Standing Cognition and Co-morbidities of POTS Evaluation Active, not recruiting NCT03602482 Not Applicable
32 Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia Syndrome Active, not recruiting NCT02196376
33 Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients Active, not recruiting NCT02761928
34 Origins and Impact of EDS in Connective Tissues and Skin Enrolling by invitation NCT02721797
35 Compression Garments on Hypermobility Type of Ehlers-Danlos Syndrome (CGhEDS) Not yet recruiting NCT03359135
36 Efficiency Clinical Study of NOVATEX MEDICAL Pressure Garments in Patients With Ehlers-Danlos Syndrome Not yet recruiting NCT03330977 Not Applicable
37 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Not yet recruiting NCT03575182 Not Applicable
38 Head Circumference Growth in Children Who Develop Multiple Sclerosis Later in Life 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 30

Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

42
Skin, Bone, Colon, Testes, Breast, Heart, Small Intestine

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

(show top 50) (show all 1777)
# Title Authors Year
1
Late conversion after endovascular abdominal aortic aneurysm repair in a patient with Ehlers-Danlos syndrome. ( 30619980 )
2019
2
Hevesi M, Chaudhry AR, Wagner ER, Moran SL. Thumb carpometacarpal arthritis in patients with Ehlers-Danlos Syndrome: non-operative and operative experiences. J Hand Surg Eur. 2019, 44: 587-94. ( 30913950 )
2019
3
Bilateral Vertebral Artery Dissection and Unilateral Carotid Artery Dissection in Case of Ehlers-Danlos Syndrome Type IV. ( 30315974 )
2019
4
Aortic Surgery Outcomes of Marfan Syndrome and Ehlers-Danlos Syndrome Patients at Teaching and Nonteaching Hospitals. ( 30287287 )
2019
5
Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers-Danlos syndrome: A randomized controlled trial. ( 30569502 )
2019
6
Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome. ( 30598319 )
2019
7
Cervical artery dissection: fibromuscular dysplasia versus vascular Ehlers-Danlos syndrome. ( 30623691 )
2019
8
Use of prescription opioid and other drugs among a cohort of persons with Ehlers-Danlos syndrome: A retrospective study. ( 30624009 )
2019
9
Anesthetic Management for Ehlers-Danlos Syndrome, Hypermobility Type Complicated by Local Anesthetic Allergy: A Case Report. ( 30626862 )
2019
10
Ehlers-Danlos syndrome with infective endocarditis: A case report with literature review. ( 30627513 )
2019
11
Percutaneous Embolization of an Inferior Mesenteric Artery Aneurysm in a Patient With Type IV Ehlers-Danlos Syndrome. ( 30630391 )
2019
12
Fragility of Life: Recurrent Intestinal Perforation Due to Vascular Ehlers-Danlos Syndrome. ( 30656563 )
2019
13
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. ( 30668708 )
2019
14
Prevalence of Functional GI Diseases and Pelvic Floor Symptoms in Marfan Syndrome and Ehlers-Danlos Syndrome: A National Cohort Study. ( 30672816 )
2019
15
Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders. ( 30703284 )
2019
16
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts. ( 30716086 )
2019
17
Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome. ( 30759870 )
2019
18
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients. ( 30783660 )
2019
19
Accuracy of Clinical Diagnostic Criteria for Patients with Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre. ( 30786240 )
2019
20
Vascular Type of Ehlers-Danlos Syndrome: A Case Report of an Aortic Dissection During Pregnancy. ( 30792378 )
2019
21
Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. ( 30793832 )
2019
22
Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2. ( 30821104 )
2019
23
Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing. ( 30826961 )
2019
24
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility. ( 30837697 )
2019
25
Anterior cervical corpectomy decompression and fusion for cervical kyphosis in a girl with Ehlers-Danlos syndrome: A case report. ( 30842966 )
2019
26
Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study. ( 30856599 )
2019
27
New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases. ( 30858776 )
2019
28
Spontaneous perforation of small intestine followed by rupture of the cystic artery: the natural history of Vascular Ehlers-Danlos Syndrome. ( 30863729 )
2019
29
Gleno-humeral abduction measurement in patients with ehlers-danlos syndrome. ( 30885819 )
2019
30
Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome. ( 29450629 )
2018
31
Pulmonary Fibrous Nodule with Ossifications as a Hint for Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1. ( 29323927 )
2018
32
Bowel perforation in type IV vascular Ehlers-Danlos syndrome. A systematic review. ( 29700641 )
2018
33
Sleep Disorders and Their Management in Children With Ehlers-Danlos Syndrome Referred to Sleep Clinics. ( 29609717 )
2018
34
Gastrointestinal: Huge submucosal hematoma of the stomach arising in a patient with vascular type Ehlers-Danlos syndrome. ( 29961947 )
2018
35
Knee joint instability after total knee replacement in a patient with Ehlers-Danlos syndrome: the role of insert changes as practical solution. ( 29666082 )
2018
36
Hypermobile Ehlers-Danlos syndrome and rehabilitation: taking stock of evidence based medicine: a systematic review of the literature. ( 29950777 )
2018
37
Single-Ventricle Palliation in a 4-Year-Old With Ehlers-Danlos Syndrome. ( 29233360 )
2018
38
In reply to "Mast Cell Disorders in Ehlers-Danlos Syndrome". ( 29130629 )
2018
39
Prenatal care and labor in patients with MESENCHIMAL dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia). ( 29938556 )
2018
40
A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement. ( 29778910 )
2018
41
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. ( 29606302 )
2018
42
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. ( 29346445 )
2018
43
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing. ( 29024828 )
2018
44
Dermal fibroblast-to-myofibroblast transition sustained by I+vA93 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders. ( 29309923 )
2018
45
Ehlers-Danlos Syndrome Type IVB and Tracheobronchomegaly. ( 29261580 )
2018
46
Testicular torsion in a patient with Ehlers-Danlos syndrome. ( 29572364 )
2018
47
Low- and high-anxious hypermobile Ehlers-Danlos syndrome patients: comparison of psychosocial and health variables. ( 29497845 )
2018
48
Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review. ( 29357706 )
2018
49
Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome. ( 29519641 )
2018
50
Spinal Anaesthesia for Cesarean Section in a Patient with Vascular Type Ehlers-Danlos Syndrome. ( 29623224 )
2018

Variations for Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Ehlers-Danlos Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL3A1 NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs111840783 GRCh37 Chromosome 2, 189875018: 189875018
2 COL3A1 NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs111840783 GRCh38 Chromosome 2, 189010292: 189010292
3 COL3A1 NM_000090.3(COL3A1): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic rs587779705 GRCh37 Chromosome 2, 189855042: 189855042
4 COL3A1 NM_000090.3(COL3A1): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic rs587779705 GRCh38 Chromosome 2, 188990316: 188990316
5 COL5A1 NM_000093.4(COL5A1): c.5136+73G> A single nucleotide variant Uncertain significance rs560195385 GRCh37 Chromosome 9, 137721963: 137721963
6 COL5A1 NM_000093.4(COL5A1): c.5136+73G> A single nucleotide variant Uncertain significance rs560195385 GRCh38 Chromosome 9, 134830117: 134830117
7 COL3A1 NM_000090.3(COL3A1): c.1173delT (p.Pro392Leufs) deletion Likely pathogenic rs1553507863 GRCh37 Chromosome 2, 189858787: 189858787
8 COL3A1 NM_000090.3(COL3A1): c.1173delT (p.Pro392Leufs) deletion Likely pathogenic rs1553507863 GRCh38 Chromosome 2, 188994061: 188994061
9 COL3A1 NM_000090.3(COL3A1): c.1509+2T> C single nucleotide variant Likely pathogenic rs1553508039 GRCh37 Chromosome 2, 189859827: 189859827
10 COL3A1 NM_000090.3(COL3A1): c.1509+2T> C single nucleotide variant Likely pathogenic rs1553508039 GRCh38 Chromosome 2, 188995101: 188995101

Copy number variations for Ehlers-Danlos Syndrome from CNVD:

7
# CNVD ID Chromosom 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:

38
# 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 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2
Show member pathways
12.5 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
3
Show member pathways
12.42 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4
Show member pathways
12.33 B3GALT6 B4GALT7 CHST14 DSE
5
Show member pathways
12.21 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6
Show member pathways
11.96 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
7
Show member pathways
11.92 COL1A1 COL1A2 TNXB
8 11.81 COL1A1 COL1A2 COL3A1
9
Show member pathways
11.7 COL1A1 COL1A2 COL3A1
10 11.67 COL1A1 COL1A2 COL3A1
11 11.64 COL1A1 COL1A2 COL3A1
12 11.37 COL1A1 COL1A2 COL3A1
13 11.25 COL1A1 COL1A2 COL3A1
14 11.19 COL1A1 COL1A2
15 11.17 COL1A1 COL1A2
16 11.02 COL1A1 COL1A2 COL3A1
17 10.92 COL1A1 COL1A2
18 10.73 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
19 10.65 COL1A2 COL3A1 COL5A1 COL5A2 TNXB

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 Golgi apparatus GO:0005794 9.95 B3GALT6 B4GALT7 CHST14 COL1A1 DSE SLC39A13
2 endoplasmic reticulum GO:0005783 9.95 B3GALT6 COL1A1 COL1A2 DSE FKBP14 PLOD1
3 endoplasmic reticulum lumen GO:0005788 9.73 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 FKBP14
4 collagen trimer GO:0005581 9.55 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5 extracellular matrix GO:0031012 9.5 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6 collagen type V trimer GO:0005588 9.37 COL5A1 COL5A2
7 collagen type I trimer GO:0005584 9.32 COL1A1 COL1A2
8 collagen-containing extracellular matrix GO:0062023 9.17 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
9 extracellular region GO:0005576 10.03 ADAMTS2 C1R COL1A1 COL1A2 COL3A1 COL5A1
10 extracellular space GO:0005615 10 C1R COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.76 COL1A1 COL1A2 COL3A1 COL5A2
2 platelet activation GO:0030168 9.73 COL1A1 COL1A2 COL3A1
3 extracellular matrix organization GO:0030198 9.63 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
4 cellular response to amino acid stimulus GO:0071230 9.62 COL1A1 COL1A2 COL3A1 COL5A2
5 glycosaminoglycan biosynthetic process GO:0006024 9.58 B3GALT6 B4GALT7
6 chondroitin sulfate biosynthetic process GO:0030206 9.58 B3GALT6 DSE
7 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.57 B3GALT6 DSE
8 blood vessel development GO:0001568 9.56 COL1A1 COL1A2 COL3A1 COL5A1
9 collagen metabolic process GO:0032963 9.55 PLOD1 TNXB
10 glycosaminoglycan metabolic process GO:0030203 9.54 B3GALT6 B4GALT7
11 supramolecular fiber organization GO:0097435 9.54 B4GALT7 COL3A1 COL5A1
12 protein heterotrimerization GO:0070208 9.52 COL1A1 COL1A2
13 dermatan sulfate biosynthetic process GO:0030208 9.51 CHST14 DSE
14 collagen biosynthetic process GO:0032964 9.49 COL1A1 COL5A1
15 skin morphogenesis GO:0043589 9.48 COL1A1 COL1A2
16 eye morphogenesis GO:0048592 9.43 COL5A1 COL5A2
17 negative regulation of endodermal cell differentiation GO:1903225 9.4 COL5A1 COL5A2
18 skin development GO:0043588 9.35 ADAMTS2 COL1A1 COL3A1 COL5A1 COL5A2
19 collagen fibril organization GO:0030199 9.23 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.54 COL3A1 COL5A1 TNXB
2 protease binding GO:0002020 9.5 COL1A1 COL1A2 COL3A1
3 platelet-derived growth factor binding GO:0048407 9.46 COL1A1 COL1A2 COL3A1 COL5A1
4 galactosyltransferase activity GO:0008378 9.43 B3GALT6 B4GALT7
5 SMAD binding GO:0046332 9.43 COL1A2 COL3A1 COL5A2
6 extracellular matrix structural constituent GO:0005201 9.43 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
7 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.02 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
8 metal ion binding GO:0046872 10.06 ADAMTS2 B4GALT7 COL1A1 COL1A2 COL3A1 COL5A1

Sources for Ehlers-Danlos Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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