EDS
MCID: EHL001
MIFTS: 63

Ehlers-Danlos Syndrome (EDS) malady

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

Aliases & Classifications for Ehlers-Danlos Syndrome

Aliases & Descriptions for Ehlers-Danlos Syndrome:

Name: Ehlers-Danlos Syndrome 12 25 52 41 42 14 69
Ehlers Danlos Disease 25 29
Elastic Skin 12 52
Eds 50 25
Ehlers-Danlos Syndromes 50
Ehlers Danlos Syndrome 50
Cutis Hyperelastica 12
Ed Syndrome 50

Classifications:



External Ids:

Disease Ontology 12 DOID:13359
ICD10 33 Q79.6
ICD9CM 35 756.83
MeSH 42 D004535
NCIt 47 C34568
UMLS 69 C0013720

Summaries for Ehlers-Danlos Syndrome

NIH Rare Diseases : 50 ehlers-danlos syndromes (eds) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. the new classification, from 2017, includes 13 subtypes of eds. although other forms of the condition may exist, they are extremely rare and are not well-characterized. the signs and symptoms of eds vary by type and range from mildly loose joints to life-threatening complications. features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. mutations in a variety of genes may lead to eds; however, the underlying genetic cause in some families is unknown. depending on the subtype, eds may be inherited in an autosomal dominant or an autosomal recessive manner. there is no specific cure for eds. the treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. please visit the following link from the ehlers-danlos society to learn more about the new classification and the different subtypes: https://ehlers-danlos.com/eds-types/   last updated: 4/20/2017

MalaCards based summary : Ehlers-Danlos Syndrome, also known as ehlers danlos disease, is related to ehlers-danlos syndrome, classic type and ehlers-danlos syndrome, type vi, 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 Phospholipase-C Pathway and Focal Adhesion. The drugs Celiprolol and Adrenergic Agents 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

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.

Genetics Home Reference : 25 Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary 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.

Wikipedia : 71 Ehlers–Danlos syndrome (EDS) is 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 Vi Ehlers-Danlos Syndrome, Type Iv
Ehlers-Danlos Syndrome, Type Viic Ehlers-Danlos Syndrome, Type Viib
Ehlers-Danlos Syndrome, Type Viii Ehlers-Danlos Syndrome, Type Iii
Ehlers-Danlos Syndrome, Type V Type I Ehlers-Danlos Syndrome
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, Type Vii
Ehlers-Danlos Syndrome Type Ii

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

(show top 50) (show all 226)
id Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type 34.6 COL3A1 COL5A1
2 ehlers-danlos syndrome, type vi 34.4 COL1A1 PLOD1
3 ehlers-danlos syndrome, progeroid type, 2 33.8 B3GALT6 B4GALT7
4 xanthinuria 30.1 COL1A1 COL1A2 PLOD1
5 ehlers-danlos syndrome, type iv 12.8
6 ehlers-danlos syndrome, type viib 12.8
7 ehlers-danlos syndrome, type iii 12.8
8 ehlers-danlos syndrome, type viic 12.7
9 ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 12.7
10 ehlers-danlos syndrome due to tenascin x deficiency 12.6
11 ehlers-danlos syndrome, type viii 12.6
12 spondylocheirodysplasia, ehlers-danlos syndrome-like 12.5
13 ehlers-danlos syndrome, cardiac valvular form 12.5
14 musculocontractural ehlers-danlos syndrome 12.5
15 ehlers-danlos syndrome, progeroid type, 1 12.5
16 spondylodysplastic ehlers-danlos syndrome 12.5
17 periodontal ehlers-danlos syndrome 12.5
18 ehlers-danlos syndrome, musculocontractural type 1 12.5
19 ehlers-danlos syndrome, musculocontractural type 2 12.5
20 hypermobile ehlers-danlos syndrome 12.5
21 ehlers-danlos syndrome, periodontal type 2 12.4
22 classical-like ehlers-danlos syndrome 12.4
23 ehlers-danlos syndrome type ii 12.4
24 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality 12.4
25 type i ehlers-danlos syndrome 12.3
26 ehlers-danlos syndrome, type v 12.3
27 ehlers-danlos syndrome, kyphoscoliotic form 12.3
28 ehlers-danlos syndrome, type vii 12.2
29 ehlers-danlos syndrome, vascular-like type 12.1
30 cardiac-valvular ehlers-danlos syndrome 12.1
31 autosomal recessive type iv ehlers-danlos syndrome 12.1
32 ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency 12.1
33 ehlers-danlos syndrome, periodontal type 1 12.1
34 ehlers-danlos syndrome, classic type, col1a1-related 12.0
35 ehlers-danlos syndrome, classic type, col5a1-related 12.0
36 ehlers-danlos syndrome, classic type, col5a2-related 12.0
37 occipital horn syndrome 12.0
38 brittle cornea syndrome 1 11.7
39 brittle cornea syndrome 2 11.7
40 connective tissue disease 11.4
41 heterotopia, periventricular, ed variant 11.4
42 joint laxity, familial 11.4
43 flna-related periventricular nodular heterotopia 11.2
44 cutis laxa, autosomal recessive, type ic 11.1
45 hereditary alpha tryptasemia syndrome 11.1
46 heterotopia, periventricular 11.1
47 mounier-kuhn syndrome 11.1
48 aortic aneurysm, familial thoracic 1 11.1
49 auditory neuropathy 11.1
50 cutis laxa, autosomal recessive, type ia 11.1

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 CHST14 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2 growth/size/body region MP:0005378 9.85 ADAMTS2 CHST14 COL1A1 COL1A2 COL3A1 COL5A1
3 integument MP:0010771 9.73 COL5A2 DSE PLOD1 PLOD3 SLC39A13 TNXB
4 skeleton MP:0005390 9.17 COL5A2 PLOD1 SLC39A13 ADAMTS2 CHST14 COL1A1

Drugs & Therapeutics for Ehlers-Danlos Syndrome

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

(show all 38)
id 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 Neurotransmitter Agents Phase 4
6 Adrenergic beta-Antagonists Phase 4
7 Peripheral Nervous System Agents Phase 4
8 Vasodilator Agents Phase 4
9 Anti-Arrhythmia Agents Phase 4
10 Antihypertensive Agents Phase 4,Phase 3
11 Autonomic Agents Phase 4
12
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
13
Copper Approved Phase 3 15158-11-9, 7440-50-8 27099
14 Trace Elements Phase 3
15 Micronutrients Phase 3
16
Angiotensin II Phase 3 68521-88-0, 11128-99-7 65143 172198
17
protease inhibitors Phase 3
18 Serine Proteinase Inhibitors Phase 3
19 HIV Protease Inhibitors Phase 3
20 Vasoconstrictor Agents Phase 3
21 Angiotensin II Type 1 Receptor Blockers Phase 3
22 Angiotensin Receptor Antagonists Phase 3
23 Angiotensinogen Phase 3
24 serine Nutraceutical Phase 3
25 histidine Nutraceutical Phase 3
26
Ethanol Approved 64-17-5 702
27
Acetylcholine Approved 51-84-3 187
28
Riboflavin Approved, Nutraceutical, Vet_approved 83-88-5 493570
29
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
30 Dermatologic Agents
31 Vitamin B Complex
32 Vitamins
33 Photosensitizing Agents
34 Immunoglobulins
35 Antibodies
36 Folate Nutraceutical
37 Vitamin B2 Nutraceutical
38 Vitamin B9 Nutraceutical

Interventional clinical trials:

(show all 27)
id Name Status NCT ID Phase
1 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4
2 Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome (ARCADE) Recruiting NCT02597361 Phase 3
3 Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency Recruiting NCT00811785 Phase 3
4 Mind-Body Therapy for Pain in Ehlers-Danlos Syndrome Completed NCT00001966 Phase 2
5 Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Unknown status NCT02144532
6 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527
7 Patient Education Program and Ehlers-Danlos Syndrome Completed NCT02817490
8 Biomarkers in Vascular Ehlers-Danlos Syndrome Completed NCT02165085
9 Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome Completed NCT02435745
10 Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome Completed NCT02712060
11 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life Completed NCT01367977
12 Vascular Fundus Changes in Patients With High Probability of Chronic Cerebrospinal Venous Insufficiency (CCSVI) Completed NCT01356134
13 IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos Patients Completed NCT01446783
14 Non-Invasive Quantitative Imaging of Human Local Arterial Wall Elasticity Using Supersonic Shear Imaging Completed NCT01096264
15 Studies of Heritable Disorders of Connective Tissue Completed NCT00270686
16 Study of Heritable Connective Tissue Disorders Completed NCT00001641
17 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
18 Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes Completed NCT02213484
19 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710
20 Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging Recruiting NCT02538822
21 Development of a Blood Test for Marfan Syndrome Recruiting NCT02148900
22 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Recruiting NCT02854098
23 Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia Syndrome Active, not recruiting NCT02196376
24 Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients Active, not recruiting NCT02761928
25 Origins and Impact of EDS in Connective Tissues and Skin Enrolling by invitation NCT02721797
26 Genetics of Ehlers-Danlos Syndrome Not yet recruiting NCT03093493
27 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:

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome 29

Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

39
Skin, Bone, Colon, Lung, Liver, Testes, Breast

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

(show top 50) (show all 910)
id Title Authors Year
1
Multiple perforation of small-intestine diverticula in a patient with Ehlers-Danlos syndrome. ( 27990838 )
2017
2
Superior Semicircular Canal Dehiscence in a Patient with Ehlers-Danlos Syndrome: A Case Report. ( 28484680 )
2017
3
Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: a review for the gastroenterologist. ( 28086259 )
2017
4
Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing. ( 28035354 )
2017
5
Family with Ehlers-Danlos syndrome (combined classic and vascular type) with rare presentation of progressive myopathy and unusual association of severe facial and trigeminal motor weakness. ( 28488622 )
2017
6
Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers-Danlos syndrome. ( 28077691 )
2017
7
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? ( 28286774 )
2017
8
Ehlers-Danlos syndrome, classical type. ( 28192633 )
2017
9
Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study. ( 28073822 )
2017
10
Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome. ( 28422173 )
2017
11
Spontaneous coronary artery intramural hematoma in a patient with vascular Ehlers-Danlos syndrome: Serial findings in coronary computed tomographic angiography. ( 28342678 )
2017
12
The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. ( 28306230 )
2017
13
Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort. ( 28436618 )
2017
14
Collagen V haploinsufficiency in a murine model of classic Ehlers-Danlos syndrome is associated with deficient structural and mechanical healing in tendons. ( 28387435 )
2017
15
Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study. ( 28211643 )
2017
16
Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype. ( 27905128 )
2017
17
Pregnancy and Mesenchimal Dysplasias (Marfan Syndrome, Ehlers-danlos Syndrome, Hereditary Hemorrhagic Telangiectasia). ( 28482718 )
2017
18
Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. ( 28238810 )
2017
19
Mast cell disorders in Ehlers-Danlos syndrome. ( 28261938 )
2017
20
Carotid Cavernous Fistula in a Patient with Type IV Ehlers-Danlos Syndrome. ( 28228175 )
2017
21
Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type. ( 28186393 )
2017
22
The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study. ( 27931013 )
2017
23
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. ( 28266107 )
2017
24
Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 28482708 )
2017
25
Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. ( 28051109 )
2017
26
Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome. ( 27743500 )
2017
27
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. ( 28306228 )
2017
28
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients. ( 28485813 )
2017
29
Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome. ( 27094596 )
2016
30
Ehlers-Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice? ( 27149643 )
2016
31
Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn. ( 27295357 )
2016
32
Bone involvement in adult patients affected with Ehlers-Danlos syndrome. ( 27084695 )
2016
33
Peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type: a report of 2 cases. ( 26897449 )
2016
34
Teaching NeuroImages: Carotid cavernous fistula in a patient with Ehlers-Danlos syndrome. ( 27572437 )
2016
35
Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report. ( 27799058 )
2016
36
Association between diverticular disease and Ehlers-Danlos syndrome: a 13-year nationwide population-based cohort study. ( 27604811 )
2016
37
Laryngological presentations of Ehlers-Danlos syndrome: case series of nine patients from two London tertiary referral centres. ( 27434416 )
2016
38
Ehlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic Disorder. ( 27824552 )
2016
39
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome. ( 26646600 )
2016
40
Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration. ( 27488172 )
2016
41
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant. ( 26879370 )
2016
42
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. ( 27745832 )
2016
43
Revision pediatric anterior cruciate ligament reconstruction after failure of iliotibial band technique treated with all-epiphyseal technique in a prepubescent with Ehlers-Danlos syndrome: a case report. ( 26986031 )
2016
44
Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back. ( 26872206 )
2016
45
Perisigmoid Abscess Leading to a Diagnosis of Ehlers-Danlos Syndrome Type IV. ( 26958560 )
2016
46
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. ( 27292226 )
2016
47
Increased Need for Gastrointestinal Surgery and Increased Risk of Surgery-Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review. ( 27931023 )
2016
48
Facelift for an Ehlers-Danlos Syndrome Patient: A Case Report. ( 26879302 )
2016
49
Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26919608 )
2016
50
Cardiovascular profile in postural orthostatic tachycardia syndrome and Ehlers-Danlos syndrome type III. ( 28005189 )
2016

Variations for Ehlers-Danlos Syndrome

Copy number variations for Ehlers-Danlos Syndrome from CNVD:

7
id 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 GeneCards Suite gene sharing:

(show all 15)
id 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:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.98 COL1A1 COL1A2 DSE FKBP14 PLOD1 PLOD3
2 Golgi apparatus GO:0005794 9.95 B3GALT6 B4GALT7 CHST14 COL1A1 DSE PLOD3
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 proteinaceous extracellular matrix GO:0005578 9.5 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6 rough endoplasmic reticulum membrane GO:0030867 9.46 PLOD1 PLOD3
7 collagen type V trimer GO:0005588 9.37 COL5A1 COL5A2
8 collagen type I trimer GO:0005584 9.32 COL1A1 COL1A2
9 extracellular matrix GO:0031012 9.17 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
10 extracellular space GO:0005615 10.02 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.81 COL1A1 COL1A2 COL3A1 COL5A2
2 platelet activation GO:0030168 9.74 COL1A1 COL1A2 COL3A1
3 extracellular matrix organization GO:0030198 9.73 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
4 cellular response to amino acid stimulus GO:0071230 9.67 COL1A1 COL1A2 COL3A1 COL5A2
5 blood vessel development GO:0001568 9.62 COL1A1 COL1A2 COL3A1 COL5A1
6 glycosaminoglycan metabolic process GO:0030203 9.59 B3GALT6 B4GALT7
7 chondroitin sulfate biosynthetic process GO:0030206 9.58 B3GALT6 DSE
8 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.58 B3GALT6 DSE
9 supramolecular fiber organization GO:0097435 9.58 B4GALT7 COL3A1 COL5A1
10 protein heterotrimerization GO:0070208 9.56 COL1A1 COL1A2
11 dermatan sulfate biosynthetic process GO:0030208 9.55 CHST14 DSE
12 skin development GO:0043588 9.55 ADAMTS2 COL1A1 COL3A1 COL5A1 COL5A2
13 skin morphogenesis GO:0043589 9.54 COL1A1 COL1A2
14 collagen biosynthetic process GO:0032964 9.52 COL1A1 COL5A1
15 eye morphogenesis GO:0048592 9.49 COL5A1 COL5A2
16 hydroxylysine biosynthetic process GO:0046947 9.48 PLOD1 PLOD3
17 peptidyl-lysine hydroxylation GO:0017185 9.46 PLOD1 PLOD3
18 negative regulation of endodermal cell differentiation GO:1903225 9.43 COL5A1 COL5A2
19 collagen catabolic process GO:0030574 9.43 ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
20 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:

id 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-lysine 5-dioxygenase activity GO:0008475 9.26 PLOD1 PLOD3
8 procollagen glucosyltransferase activity GO:0033823 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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