MCID: EHL001
MIFTS: 60

Ehlers-Danlos Syndrome

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

Aliases & Classifications for Ehlers-Danlos Syndrome

MalaCards integrated aliases for Ehlers-Danlos Syndrome:

Name: Ehlers-Danlos Syndrome 12 76 25 37 29 55 6 43 44 15 73
Elastic Skin 12 55
Eds 53 25
Ehlers-Danlos Syndromes 53
Syndrome, Ehlers-Danlos 40
Ehlers Danlos Syndrome 53
Ehlers Danlos Disease 25
Cutis Hyperelastica 12
Ed Syndrome 53

Classifications:



External Ids:

Disease Ontology 12 DOID:13359
ICD10 33 Q79.6
ICD9CM 35 756.83
MeSH 44 D004535
NCIt 50 C34568
KEGG 37 H00802
UMLS 73 C0013720

Summaries for Ehlers-Danlos Syndrome

NIH Rare Diseases : 53 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, muscle cramp and sciatica. 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 Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and testes, 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 : 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.

MedlinePlus : 43 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 : 76 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 245)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, vascular type 35.5 COL3A1 COL5A1
2 ehlers-danlos syndrome, classic type, 2 34.8 COL1A1 COL5A1 COL5A2
3 ehlers-danlos syndrome, classic type, 1 34.2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4 ehlers-danlos syndrome, classic type 34.2 COL1A1 COL1A2 COL5A1 COL5A2
5 spondylodysplastic ehlers-danlos syndrome 34.0 B3GALT6 B4GALT7
6 musculocontractural ehlers-danlos syndrome 33.8 CHST14 DSE
7 ehlers-danlos syndrome progeroid type 33.7 B3GALT6 B4GALT7
8 ehlers-danlos syndrome, hypermobility type 33.7 COL1A1 COL3A1 FKBP14 PLOD1 TNXB
9 brittle cornea syndrome 2 33.6 CHST14 COL5A1 PLOD1
10 ehlers-danlos/osteogenesis imperfecta syndrome 31.5 COL1A1 COL1A2
11 brittle bone disorder 31.2 COL1A1 COL1A2 COL3A1
12 marfan syndrome 30.9 COL1A2 COL3A1 COL5A2
13 hypomelanosis of ito 30.9 COL5A1 PLOD1
14 cervical incompetence 30.9 COL5A2 PLOD1
15 connective tissue disease 30.8 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 PLOD1
16 hypermobility syndrome 30.6 C1R COL3A1 COL5A1 COL5A2 TNXB
17 congenital contractures 30.0 CHST14 PLOD1
18 ehlers-danlos syndrome, periodontal type, 1 12.9
19 ehlers-danlos syndrome, classic-like 12.8
20 ehlers-danlos syndrome, kyphoscoliotic type, 2 12.8
21 ehlers-danlos syndrome, dermatosparaxis type 12.8
22 ehlers-danlos syndrome, arthrochalasia type, 1 12.8
23 ehlers-danlos syndrome, kyphoscoliotic type, 1 12.7
24 ehlers-danlos syndrome, spondylodysplastic type, 3 12.7
25 ehlers-danlos syndrome, cardiac valvular type 12.7
26 ehlers-danlos syndrome, musculocontractural type, 1 12.7
27 kyphoscoliotic ehlers-danlos syndrome 12.6
28 hypermobile ehlers-danlos syndrome 12.6
29 ehlers-danlos syndrome, spondylodysplastic type, 1 12.6
30 ehlers-danlos syndrome, musculocontractural type, 2 12.6
31 ehlers-danlos syndrome, spondylodysplastic type, 2 12.6
32 ehlers-danlos syndrome, arthrochalasia type, 2 12.5
33 ehlers-danlos syndrome, periodontal type, 2 12.5
34 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality 12.5
35 arthrochalasia ehlers-danlos syndrome 12.4
36 ehlers-danlos syndrome, classic-like, 2 12.4
37 ehlers-danlos syndrome, type v 12.4
38 periodontal ehlers-danlos syndrome 12.4
39 ehlers-danlos syndrome, arthrochalasis type 12.4
40 plod1-related kyphoscoliotic ehlers-danlos syndrome 12.4
41 ehlers-danlos syndrome, vascular-like type 12.3
42 ehlers-danlos syndrome type 7b 12.3
43 type i ehlers-danlos syndrome 12.2
44 ehlers-danlos syndrome, autosomal dominant, type unspecified 12.2
45 ehlers-danlos syndrome, beasley-cohen type 12.2
46 autosomal recessive type iv ehlers-danlos syndrome 12.2
47 occipital horn syndrome 12.1
48 brittle cornea syndrome 1 12.0
49 aortic aneurysm, familial thoracic 1 11.6
50 joint laxity, familial 11.6

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, muscle cramp, sciatica

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 COL1A1 TNXB COL1A2 COL3A1 COL5A1 COL5A2
2 growth/size/body region MP:0005378 9.85 SLC39A13 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
3 integument MP:0010771 9.73 COL1A1 TNXB COL1A2 COL3A1 COL5A1 COL5A2
4 skeleton MP:0005390 9.17 CHST14 SLC39A13 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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celiprolol Approved, Investigational Phase 4 56980-93-9
2 Adrenergic Agents Phase 4
3 Adrenergic Antagonists Phase 4
4 Adrenergic beta-1 Receptor Antagonists Phase 4
5 Adrenergic beta-Antagonists Phase 4
6 Anti-Arrhythmia Agents Phase 4
7 Antihypertensive Agents Phase 4,Phase 3
8 Autonomic Agents Phase 4
9 Neurotransmitter Agents Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Vasodilator Agents Phase 4
12
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
13
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
14
Copper Approved, Investigational Phase 3 7440-50-8 27099
15
Serine Approved, Nutraceutical Phase 3 56-45-1 5951
16
Histidine Approved, Nutraceutical Phase 3 71-00-1 6274
17 Micronutrients Phase 3,Not Applicable
18 Trace Elements Phase 3,Not Applicable
19 Angiotensin II Type 1 Receptor Blockers Phase 3
20 Angiotensin Receptor Antagonists Phase 3
21 Angiotensinogen Phase 3
22 HIV Protease Inhibitors Phase 3
23
protease inhibitors Phase 3
24 Serine Proteinase Inhibitors Phase 3
25 Vasoconstrictor Agents Phase 3
26
Petrolatum Approved, Investigational Not Applicable 8009-03-8
27
Acetylcholine Approved Not Applicable 51-84-3 187
28
Ethanol Approved Not Applicable 64-17-5 702
29
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
30
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 83-88-5 493570
31 Dermatologic Agents Not Applicable
32 Photosensitizing Agents Not Applicable
33 Vitamin B Complex Not Applicable
34 Vitamins Not Applicable
35 Antibodies
36 Immunoglobulins
37 Folate Nutraceutical Not Applicable
38 Vitamin B2 Nutraceutical Not Applicable
39 Vitamin B9 Nutraceutical Not Applicable

Interventional clinical trials:

(show all 33)
# 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 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 Patient Education Program and Ehlers-Danlos Syndrome Completed NCT02817490
7 Biomarkers in Vascular Ehlers-Danlos Syndrome Completed NCT02165085
8 Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome Completed NCT02435745
9 Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome Completed NCT02712060
10 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life Completed NCT01367977
11 Vascular Fundus Changes in Patients With High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI) Completed NCT01356134
12 IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos Patients Completed NCT01446783 Not Applicable mecasermin;Saline
13 Non-Invasive Quantitative Imaging of Human Local Arterial Wall Elasticity Using Supersonic Shear Imaging Completed NCT01096264 Not Applicable
14 Studies of Heritable Disorders of Connective Tissue Completed NCT00270686
15 Study of Heritable Connective Tissue Disorders Completed NCT00001641
16 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
17 Compare the Aesthetic Effect of Different Thyroidectomies Completed NCT03239769 Not Applicable
18 Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Recruiting NCT02144532 Not Applicable
19 Genetics of Ehlers-Danlos Syndrome Recruiting NCT03093493
20 Impact Study on Cerecare Compression Garments in the Treatment of Ehlers-Danlos Syndromes Recruiting NCT03451188
21 Prevalence of FODMAP Intolerance and JHS in FGID and Association With Microbiome, Dyssynergic Defecation and Dietary Intervention Recruiting NCT03460613 Not Applicable
22 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710 Not Applicable
23 Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging Recruiting NCT02538822 Not Applicable
24 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
25 Development of a Blood Test for Marfan Syndrome Recruiting NCT02148900
26 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Recruiting NCT02854098
27 Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia Syndrome Active, not recruiting NCT02196376
28 Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients Active, not recruiting NCT02761928
29 Origins and Impact of EDS in Connective Tissues and Skin Enrolling by invitation NCT02721797
30 Compression Garments on Hypermobility Type of Ehlers-Danlos Syndrome (CGhEDS) Not yet recruiting NCT03359135
31 Efficiency Clinical Study of NOVATEX MEDICAL Pressure Garments in Patients With Ehlers-Danlos Syndrome Not yet recruiting NCT03330977 Not Applicable
32 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Not yet recruiting NCT03575182 Not Applicable
33 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 29

Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

41
Skin, Bone, Testes, Colon, Breast, Lung, Liver

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

(show top 50) (show all 998)
# Title Authors Year
1
Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome. ( 29450629 )
2018
2
Pulmonary Fibrous Nodule with Ossifications as a Hint for Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1. ( 29323927 )
2018
3
Bowel perforation in type IV vascular Ehlers-Danlos syndrome. A systematic review. ( 29700641 )
2018
4
Sleep Disorders and Their Management in Children With Ehlers-Danlos Syndrome Referred to Sleep Clinics. ( 29609717 )
2018
5
Gastrointestinal: Huge submucosal hematoma of the stomach arising in a patient with vascular type Ehlers-Danlos syndrome. ( 29961947 )
2018
6
Knee joint instability after total knee replacement in a patient with Ehlers-Danlos syndrome: the role of insert changes as practical solution. ( 29666082 )
2018
7
Hypermobile Ehlers-Danlos syndrome and rehabilitation: taking stock of evidence based medicine: a systematic review of the literature. ( 29950777 )
2018
8
Single-Ventricle Palliation in a 4-Year-Old With Ehlers-Danlos Syndrome. ( 29233360 )
2018
9
Prenatal care and labor in patients with MESENCHIMAL dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia). ( 29938556 )
2018
10
A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement. ( 29778910 )
2018
11
Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. ( 29606302 )
2018
12
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. ( 29346445 )
2018
13
A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing. ( 29024828 )
2018
14
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
15
Ehlers-Danlos Syndrome Type IVB and Tracheobronchomegaly. ( 29261580 )
2018
16
Testicular torsion in a patient with Ehlers-Danlos syndrome. ( 29572364 )
2018
17
Low- and high-anxious hypermobile Ehlers-Danlos syndrome patients: comparison of psychosocial and health variables. ( 29497845 )
2018
18
Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review. ( 29121166 )
2018
19
Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review. ( 29357706 )
2018
20
Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome. ( 29519641 )
2018
21
Spinal Anaesthesia for Cesarean Section in a Patient with Vascular Type Ehlers-Danlos Syndrome. ( 29623224 )
2018
22
Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection. ( 29216800 )
2018
23
Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review. ( 29940997 )
2018
24
Arthroscopic Anterior and Posterior Glenoid Bone Augmentation With Capsular Plication for Ehlers-Danlos Syndrome With Multidirectional Instability. ( 29868432 )
2018
25
Complications and recurrence rates of patients with Ehlers-Danlos syndrome undergoing ventral hernioplasty: a case series. ( 29388078 )
2018
26
Hepatobiliary and Pancreatic: Spontaneous hepatic hemorrhage caused by Ehlers-Danlos syndrome. ( 29888804 )
2018
27
The Many Radiological Presentations of Pulmonary Nodules in Type IV Ehlers-Danlos Syndrome. ( 29980309 )
2018
28
Vascular Ehlers-Danlos Syndrome: An Unusual Cause of Chronic Intestinal Failure in a Child. ( 29927864 )
2018
29
Vascular Ehlers-Danlos Syndrome Presenting as a Pulsatile Neck Mass: a Case Report and Review of Literature. ( 29700788 )
2018
30
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. ( 29931299 )
2018
31
Ex vivo nonlinear microscopy imaging of Ehlers-Danlos syndrome-affected skin. ( 29725758 )
2018
32
A multimodal physical therapy approach utilizing the Maitland concept in the management of a patient with cervical and lumbar radiculitis and Ehlers-Danlos syndrome-hypermobility type: A case report. ( 29308941 )
2018
33
Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke. ( 28667723 )
2017
34
Pregnancy and Mesenchimal Dysplasias (Marfan Syndrome, Ehlers-danlos Syndrome, Hereditary Hemorrhagic Telangiectasia). ( 28482718 )
2017
35
Superior Semicircular Canal Dehiscence in a Patient with Ehlers-Danlos Syndrome: A Case Report. ( 28484680 )
2017
36
Ehlers-Danlos syndrome, classical type. ( 28192633 )
2017
37
Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers-Danlos syndrome. ( 28077691 )
2017
38
Ehlers-Danlos syndrome in a young woman with anorexia nervosa and complex somatic symptoms. ( 29247552 )
2017
39
Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. ( 28051109 )
2017
40
The multisystemic nature and natural history of joint hypermobility syndrome and Ehlers-Danlos syndrome in children: New research data conflict with widely held views. ( 29106635 )
2017
41
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. ( 28238810 )
2017
42
Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study. ( 28211643 )
2017
43
Postural tachycardia in hypermobile Ehlers-Danlos syndrome: A distinct subtype? ( 28986003 )
2017
44
Successful treatment of direct carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV without arterial puncture: the transvenous triple-overlay embolization (TAILOREd) technique. ( 28824011 )
2017
45
Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type. ( 28186393 )
2017
46
A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family. ( 28183226 )
2017
47
Carotid Cavernous Fistula in a Patient with Type IV Ehlers-Danlos Syndrome. ( 28228175 )
2017
48
Increased Prevalence of Cerebrovascular Disease in Hospitalized Patients with Ehlers-Danlos Syndrome. ( 28647420 )
2017
49
Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study). ( 28642694 )
2017
50
Diagnosis of Ehlers-Danlos syndrome after a first shoulder dislocation. ( 28918999 )
2017

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.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic rs587779705 GRCh37 Chromosome 2, 189855042: 189855042
2 COL3A1 NM_000090.3(COL3A1): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic rs587779705 GRCh38 Chromosome 2, 188990316: 188990316
3 COL5A1 NM_000093.4(COL5A1): c.5136+73G> A single nucleotide variant Uncertain significance rs560195385 GRCh37 Chromosome 9, 137721963: 137721963
4 COL5A1 NM_000093.4(COL5A1): c.5136+73G> A single nucleotide variant Uncertain significance rs560195385 GRCh38 Chromosome 9, 134830117: 134830117
5 COL3A1 NM_000090.3(COL3A1): c.1173delT (p.Pro392Leufs) deletion Likely pathogenic GRCh37 Chromosome 2, 189858787: 189858787
6 COL3A1 NM_000090.3(COL3A1): c.1173delT (p.Pro392Leufs) deletion Likely pathogenic GRCh38 Chromosome 2, 188994061: 188994061
7 COL3A1 NM_000090.3(COL3A1): c.1509+2T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 189859827: 189859827
8 COL3A1 NM_000090.3(COL3A1): c.1509+2T> C single nucleotide variant Likely pathogenic 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:

37
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512
3 Lysine degradation hsa00310
4 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532
5 Glycosaminoglycan biosynthesis - heparan sulfate / heparin hsa00534

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2
Show member pathways
12.5 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
3
Show member pathways
12.48 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4
Show member pathways
12.3 B3GALT6 B4GALT7 CHST14 DSE
5
Show member pathways
11.93 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6
Show member pathways
11.9 COL1A1 COL1A2 TNXB
7 11.78 COL1A1 COL1A2 COL3A1
8
Show member pathways
11.67 COL1A1 COL1A2 COL3A1
9 11.63 COL1A1 COL1A2 COL3A1
10 11.59 COL1A1 COL1A2 COL3A1
11 11.37 COL1A1 COL1A2 COL3A1
12 11.25 COL1A1 COL1A2 COL3A1
13 11.02 COL1A1 COL1A2 COL3A1
14 10.99 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
15 10.9 COL1A1 COL1A2

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 9.98 B3GALT6 B4GALT7 CHST14 COL1A1 DSE PLOD3
2 endoplasmic reticulum GO:0005783 9.92 B3GALT6 COL1A1 COL1A2 DSE FKBP14 PLOD1
3 endoplasmic reticulum lumen GO:0005788 9.63 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 FKBP14
4 rough endoplasmic reticulum membrane GO:0030867 9.46 PLOD1 PLOD3
5 collagen type V trimer GO:0005588 9.37 COL5A1 COL5A2
6 collagen trimer GO:0005581 9.35 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
7 collagen type I trimer GO:0005584 9.26 COL1A1 COL1A2
8 extracellular matrix GO:0031012 9.17 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 PLOD3
9 extracellular region GO:0005576 10.08 ADAMTS2 C1R COL1A1 COL1A2 COL3A1 COL5A1
10 extracellular space GO:0005615 10.01 ADAMTS2 C1R COL1A1 COL1A2 COL3A1 COL5A1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.8 COL1A1 COL1A2 COL3A1 COL5A2
2 platelet activation GO:0030168 9.76 COL1A1 COL1A2 COL3A1
3 extracellular matrix organization GO:0030198 9.73 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
4 protein O-linked glycosylation GO:0006493 9.69 B3GALT6 PLOD1 PLOD3
5 blood vessel development GO:0001568 9.67 COL1A1 COL1A2 COL3A1 COL5A1
6 cellular response to amino acid stimulus GO:0071230 9.62 COL1A1 COL1A2 COL3A1 COL5A2
7 glycosaminoglycan metabolic process GO:0030203 9.61 B3GALT6 B4GALT7
8 chondroitin sulfate biosynthetic process GO:0030206 9.6 B3GALT6 DSE
9 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.59 B3GALT6 DSE
10 protein heterotrimerization GO:0070208 9.58 COL1A1 COL1A2
11 supramolecular fiber organization GO:0097435 9.58 B4GALT7 COL3A1 COL5A1
12 dermatan sulfate biosynthetic process GO:0030208 9.57 CHST14 DSE
13 collagen metabolic process GO:0032963 9.56 PLOD3 TNXB
14 skin morphogenesis GO:0043589 9.55 COL1A1 COL1A2
15 skin development GO:0043588 9.55 ADAMTS2 COL1A1 COL3A1 COL5A1 COL5A2
16 collagen biosynthetic process GO:0032964 9.54 COL1A1 COL5A1
17 peptidyl-lysine hydroxylation GO:0017185 9.52 PLOD1 PLOD3
18 hydroxylysine biosynthetic process GO:0046947 9.48 PLOD1 PLOD3
19 eye morphogenesis GO:0048592 9.46 COL5A1 COL5A2
20 negative regulation of endodermal cell differentiation GO:1903225 9.43 COL5A1 COL5A2
21 collagen catabolic process GO:0030574 9.43 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
22 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 9.61 COL3A1 COL5A1 TNXB
2 protease binding GO:0002020 9.58 COL1A1 COL1A2 COL3A1
3 SMAD binding GO:0046332 9.5 COL1A2 COL3A1 COL5A2
4 galactosyltransferase activity GO:0008378 9.48 B3GALT6 B4GALT7
5 L-ascorbic acid binding GO:0031418 9.46 PLOD1 PLOD3
6 extracellular matrix structural constituent GO:0005201 9.35 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
7 procollagen glucosyltransferase activity GO:0033823 9.26 PLOD1 PLOD3
8 procollagen-lysine 5-dioxygenase activity GO:0008475 9.16 PLOD1 PLOD3
9 platelet-derived growth factor binding GO:0048407 8.92 COL1A1 COL1A2 COL3A1 COL5A1
10 metal ion binding GO:0046872 10.07 ADAMTS2 B4GALT7 COL1A1 COL1A2 COL3A1 COL5A1

Sources for Ehlers-Danlos Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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