MCID: EHL001
MIFTS: 61

Ehlers-Danlos Syndrome

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

Aliases & Classifications for Ehlers-Danlos Syndrome

MalaCards integrated aliases for Ehlers-Danlos Syndrome:

Name: Ehlers-Danlos Syndrome 12 72 24 36 28 51 40 41 14 69
Elastic Skin 12 51
Eds 49 24
Ehlers-Danlos Syndromes 49
Ehlers Danlos Syndrome 49
Ehlers Danlos Disease 24
Cutis Hyperelastica 12
Ed Syndrome 49

Classifications:



External Ids:

Disease Ontology 12 DOID:13359
ICD10 32 Q79.6
ICD9CM 34 756.83
MeSH 41 D004535
NCIt 46 C34568
KEGG 36 H00802
UMLS 69 C0013720

Summaries for Ehlers-Danlos Syndrome

NIH Rare Diseases : 49 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/   Last updated: 4/20/2017

MalaCards based summary : Ehlers-Danlos Syndrome, also known as elastic skin, is related to ehlers-danlos syndrome, vascular type and ehlers-danlos syndrome, arthrochalasia type, 1, and has symptoms including sciatica, muscle cramp and back pain. 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

MedlinePlus : 40 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.

Genetics Home Reference : 24 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.

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.

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 2

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

(show top 50) (show all 247)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, vascular type 35.1 COL3A1 COL5A1
2 ehlers-danlos syndrome, arthrochalasia type, 1 34.9 COL1A1 COL1A2
3 spondylodysplastic ehlers-danlos syndrome 34.2 B3GALT6 B4GALT7
4 musculocontractural ehlers-danlos syndrome 34.2 CHST14 DSE
5 ehlers-danlos syndrome, classic type, 1 34.2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6 ehlers-danlos syndrome progeroid type 34.0 B3GALT6 B4GALT7
7 ehlers-danlos syndrome type 2 34.0 COL1A1 COL5A1 COL5A2
8 type i ehlers-danlos syndrome 34.0 COL1A1 COL5A1 COL5A2
9 ehlers-danlos syndrome, hypermobility type 33.9 COL3A1 FKBP14 PLOD1 TNXB
10 brittle cornea syndrome 2 33.3 CHST14 COL5A1
11 connective tissue disease 31.8 COL1A1 COL1A2 COL3A1 COL5A1 PLOD1 TNXB
12 ehlers-danlos/osteogenesis imperfecta syndrome 31.1 COL1A1 COL1A2
13 brittle bone disorder 31.0 COL1A1 COL1A2 COL3A1
14 hypermobility syndrome 31.0 C1R COL3A1 COL5A1 COL5A2 TNXB
15 hypomelanosis of ito 30.6 COL5A1 PLOD1
16 cervical incompetence 30.5 COL5A2 PLOD1
17 congenital contractures 30.3 CHST14 PLOD1
18 ehlers-danlos syndrome, periodontal type, 1 12.9
19 ehlers-danlos syndrome, classic-like 12.8
20 ehlers-danlos syndrome, dermatosparaxis type 12.8
21 ehlers-danlos syndrome, kyphoscoliotic type, 2 12.8
22 ehlers-danlos syndrome, kyphoscoliotic type, 1 12.7
23 ehlers-danlos syndrome, spondylodysplastic type, 3 12.7
24 ehlers-danlos syndrome, musculocontractural type, 1 12.7
25 ehlers-danlos syndrome, cardiac valvular type 12.7
26 kyphoscoliotic ehlers-danlos syndrome 12.6
27 ehlers-danlos syndrome, spondylodysplastic type, 1 12.6
28 periodontal ehlers-danlos syndrome 12.6
29 ehlers-danlos syndrome, spondylodysplastic type, 2 12.6
30 hypermobile ehlers-danlos syndrome 12.6
31 ehlers-danlos syndrome, musculocontractural type, 2 12.6
32 ehlers-danlos syndrome, classic 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 12.5
36 ehlers-danlos syndrome, type v 12.4
37 ehlers-danlos syndrome, kyphoscoliotic form 12.4
38 ehlers-danlos syndrome, vascular-like type 12.3
39 ehlers-danlos syndrome, arthrochalasia type, 2 12.2
40 ehlers-danlos syndrome, autosomal dominant, type unspecified 12.2
41 ehlers-danlos syndrome, beasley-cohen type 12.2
42 autosomal recessive type iv ehlers-danlos syndrome 12.2
43 occipital horn syndrome 12.1
44 brittle cornea syndrome 1 11.9
45 aortic aneurysm, familial thoracic 1 11.6
46 joint laxity, familial 11.6
47 postural orthostatic tachycardia syndrome 11.5
48 loeys-dietz syndrome 11.5
49 periventricular nodular heterotopia 1 11.5
50 cutis laxa, autosomal dominant 1 11.2

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:


sciatica, muscle cramp, back pain

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 CHST14 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2 growth/size/body region MP:0005378 9.81 ADAMTS2 CHST14 COL1A1 COL1A2 COL3A1 COL5A1
3 integument MP:0010771 9.7 ADAMTS2 CHST14 COL1A1 COL1A2 COL3A1 COL5A1
4 skeleton MP:0005390 9.17 COL1A1 COL1A2 COL5A2 PLOD1 SLC39A13 ADAMTS2

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 Micronutrients Phase 3
16 Trace Elements Phase 3
17 Angiotensin II Type 1 Receptor Blockers Phase 3
18 Angiotensin Receptor Antagonists Phase 3
19 Angiotensinogen Phase 3
20 HIV Protease Inhibitors Phase 3
21
protease inhibitors Phase 3
22 Serine Proteinase Inhibitors Phase 3
23 Vasoconstrictor Agents Phase 3
24 serine Nutraceutical Phase 3
25 histidine Nutraceutical Phase 3
26
Petrolatum Approved, Investigational 8009-03-8
27
Acetylcholine Approved 51-84-3 187
28
Ethanol Approved 64-17-5 702
29
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
30
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
31 Dermatologic Agents
32 Photosensitizing Agents
33 Vitamin B Complex
34 Vitamins
35 Antibodies
36 Immunoglobulins
37 Folate Nutraceutical
38 Vitamin B2 Nutraceutical
39 Vitamin B9 Nutraceutical

Interventional clinical trials:

(show all 31)

# 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 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 mecasermin;Saline
13 Non-Invasive Quantitative Imaging of Human Local Arterial Wall Elasticity Using Supersonic Shear Imaging Completed NCT01096264
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
18 Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Recruiting NCT02144532
19 Genetics of Ehlers-Danlos Syndrome Recruiting NCT03093493
20 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710
21 Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging Recruiting NCT02538822
22 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
23 Development of a Blood Test for Marfan Syndrome Recruiting NCT02148900
24 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Recruiting NCT02854098
25 Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia Syndrome Active, not recruiting NCT02196376
26 Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients Active, not recruiting NCT02761928
27 Origins and Impact of EDS in Connective Tissues and Skin Enrolling by invitation NCT02721797
28 Compression Garments on Hypermobility Type of Ehlers-Danlos Syndrome (CGhEDS) Not yet recruiting NCT03359135
29 Efficiency Clinical Study of NOVATEX MEDICAL Pressure Garments in Patients With Ehlers-Danlos Syndrome Not yet recruiting NCT03330977
30 Impact Study on Cerecare Compression Garments in the Treatment of Ehlers-Danlos Syndromes Not yet recruiting NCT03451188
31 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 28

Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

38
Skin, Bone, Testes, Colon, Lung, Liver, Small Intestine

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

(show top 50) (show all 961)
# Title Authors Year
1
Pulmonary Fibrous Nodule with Ossifications as a Hint for Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1. ( 29323927 )
2018
2
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. ( 29346445 )
2018
3
Complications and recurrence rates of patients with Ehlers-Danlos syndrome undergoing ventral hernioplasty: a case series. ( 29388078 )
2018
4
Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection. ( 29216800 )
2018
5
Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome. ( 29450629 )
2018
6
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
7
Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review. ( 29357706 )
2018
8
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
9
Single-Ventricle Palliation in a 4-Year-Old With Ehlers-Danlos Syndrome. ( 29233360 )
2018
10
Ehlers-Danlos Syndrome Type IVB and Tracheobronchomegaly. ( 29261580 )
2018
11
Cognitive impairment in women with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 28180909 )
2017
12
Ehlers-Danlos syndrome, classical type. ( 28192633 )
2017
13
Successful case of breast conservation radiotherapy in a patient with type III Ehlers-Danlos syndrome. ( 28727212 )
2017
14
Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype. ( 27905128 )
2017
15
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. ( 28617417 )
2017
16
A magnetic resonance imaging study of gastric motor function in patients with dyspepsia associated with Ehlers-Danlos Syndrome-Hypermobility Type: A feasibility study. ( 28568908 )
2017
17
Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature. ( 28924124 )
2017
18
Pregnancy and Mesenchimal Dysplasias (Marfan Syndrome, Ehlers-danlos Syndrome, Hereditary Hemorrhagic Telangiectasia). ( 28482718 )
2017
19
Carotid Cavernous Fistula in a Patient with Type IV Ehlers-Danlos Syndrome. ( 28228175 )
2017
20
Hemothorax in vascular Ehlers-Danlos syndrome. ( 29050841 )
2017
21
Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis. ( 28757364 )
2017
22
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome. ( 28422173 )
2017
23
Spontaneous coronary artery intramural hematoma in a patient with vascular Ehlers-Danlos syndrome: Serial findings in coronary computed tomographic angiography. ( 28342678 )
2017
24
Subjective health complaints and illness perception amongst adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-HypermobilityType - a cross-sectional study. ( 29041819 )
2017
25
Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 28482708 )
2017
26
P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine Under- hydroxylation and Cross-linking Abnormality of Ehlers-Danlos Syndrome Type VIA. ( 28115524 )
2017
27
Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke. ( 28667723 )
2017
28
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
29
Superior Semicircular Canal Dehiscence in a Patient with Ehlers-Danlos Syndrome: A Case Report. ( 28484680 )
2017
30
Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. ( 29270370 )
2017
31
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
32
Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: a review for the gastroenterologist. ( 28086259 )
2017
33
Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study. ( 28211643 )
2017
34
Diagnosis of Ehlers-Danlos syndrome after a first shoulder dislocation. ( 28918999 )
2017
35
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. ( 28238810 )
2017
36
Skeletal muscle morphology, protein synthesis, and gene expression in Ehlers-Danlos syndrome. ( 28596275 )
2017
37
Cardiovascular testing in patients with postural orthostatic tachycardia syndrome and Ehlers-Danlos syndrome type III. ( 28101744 )
2017
38
The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study. ( 27931013 )
2017
39
Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. ( 28051109 )
2017
40
Fulminant myocardial bleeding: another clinical course of vascular Ehlers-Danlos Syndrome. ( 28942401 )
2017
41
Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis? ( 28739362 )
2017
42
Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers-Danlos syndrome. ( 28077691 )
2017
43
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA. ( 27739212 )
2017
44
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. ( 28306228 )
2017
45
Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome. ( 27743500 )
2017
46
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome. ( 28882145 )
2017
47
Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study. ( 28073822 )
2017
48
Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing. ( 28035354 )
2017
49
Multiple perforation of small-intestine diverticula in a patient with Ehlers-Danlos syndrome. ( 27990838 )
2017
50
Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome. ( 28714197 )
2017

Variations for Ehlers-Danlos Syndrome

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:

36
# 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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2
Show member pathways
12.84 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
3
Show member pathways
12.5 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
4
Show member pathways
12.42 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5
Show member pathways
12.33 B3GALT6 B4GALT7 CHST14 DSE
6
Show member pathways
12.21 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
7
Show member pathways
11.93 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
8
Show member pathways
11.92 COL1A1 COL1A2 TNXB
9 11.8 COL1A1 COL1A2 COL3A1
10
Show member pathways
11.7 COL1A1 COL1A2 COL3A1
11 11.67 COL1A1 COL1A2 COL3A1
12 11.64 COL1A1 COL1A2 COL3A1
13 11.37 COL1A1 COL1A2 COL3A1
14 11.25 COL1A1 COL1A2 COL3A1
15 11.02 COL1A1 COL1A2 COL3A1
16 10.92 COL1A1 COL1A2
17 10.76 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
18 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 endoplasmic reticulum GO:0005783 9.95 COL1A1 COL1A2 DSE FKBP14 PLOD1 SLC39A13
2 Golgi apparatus GO:0005794 9.93 B3GALT6 B4GALT7 CHST14 COL1A1 DSE SLC39A13
3 extracellular matrix GO:0031012 9.73 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
4 endoplasmic reticulum lumen GO:0005788 9.63 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 FKBP14
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 9.32 COL1A1 COL1A2
8 proteinaceous extracellular matrix GO:0005578 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 10.01 ADAMTS2 C1R COL1A1 COL1A2 COL3A1 COL5A1

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 9.78 COL1A1 COL1A2 COL3A1 COL5A2
2 regulation of immune response GO:0050776 9.76 COL1A1 COL1A2 COL3A1
3 extracellular matrix organization GO:0030198 9.73 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
4 platelet activation GO:0030168 9.72 COL1A1 COL1A2 COL3A1
5 cellular response to amino acid stimulus GO:0071230 9.67 COL1A1 COL1A2 COL3A1 COL5A2
6 blood vessel development GO:0001568 9.62 COL1A1 COL1A2 COL3A1 COL5A1
7 glycosaminoglycan metabolic process GO:0030203 9.58 B3GALT6 B4GALT7
8 supramolecular fiber organization GO:0097435 9.58 B4GALT7 COL3A1 COL5A1
9 chondroitin sulfate biosynthetic process GO:0030206 9.57 B3GALT6 DSE
10 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.56 B3GALT6 DSE
11 skin development GO:0043588 9.55 ADAMTS2 COL1A1 COL3A1 COL5A1 COL5A2
12 protein heterotrimerization GO:0070208 9.54 COL1A1 COL1A2
13 dermatan sulfate biosynthetic process GO:0030208 9.52 CHST14 DSE
14 skin morphogenesis GO:0043589 9.51 COL1A1 COL1A2
15 collagen biosynthetic process GO:0032964 9.49 COL1A1 COL5A1
16 eye morphogenesis GO:0048592 9.46 COL5A1 COL5A2
17 negative regulation of endodermal cell differentiation GO:1903225 9.43 COL5A1 COL5A2
18 collagen catabolic process GO:0030574 9.43 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
19 collagen fibril organization GO:0030199 9.17 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 9.5 COL3A1 COL5A1 TNXB
2 protease binding GO:0002020 9.43 COL1A1 COL1A2 COL3A1
3 galactosyltransferase activity GO:0008378 9.37 B3GALT6 B4GALT7
4 extracellular matrix structural constituent GO:0005201 9.35 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5 SMAD binding GO:0046332 9.33 COL1A2 COL3A1 COL5A2
6 platelet-derived growth factor binding GO:0048407 8.92 COL1A1 COL1A2 COL3A1 COL5A1
7 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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