Ehlers-Danlos Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: EHL001 MIFTS: 60	Ehlers-Danlos Syndrome Categories: Rare diseases, Skin diseases, Bone diseases, Fetal diseases
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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Skin diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Congenital malformations of the musculoskeletal system, not elsewhere classified

Ehlers-Danlos syndrome

External Ids:

Disease Ontology ¹² DOID:13359

ICD10 ³³ Q79.6

ICD9CM ³⁵ 756.83

MeSH ⁴⁴ D004535

NCIt ⁵⁰ C34568

SNOMED-CT ⁶⁸ 157008000 2300005 238848002 more

KEGG ³⁷ H00802

UMLS ⁷³ C0013720

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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...

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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:

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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

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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

Celiprolol

Approved, Investigational

Phase 4

56980-93-9

Adrenergic Agents

Phase 4

Adrenergic Antagonists

Phase 4

Adrenergic beta-1 Receptor Antagonists

Phase 4

Adrenergic beta-Antagonists

Phase 4

Anti-Arrhythmia Agents

Phase 4

Antihypertensive Agents

Phase 4,Phase 3

Autonomic Agents

Phase 4

Neurotransmitter Agents

Phase 4

Peripheral Nervous System Agents

Phase 4

Vasodilator Agents

Phase 4

Angiotensin II

Approved, Investigational

Phase 3

68521-88-0, 4474-91-3, 11128-99-7

172198 65143

Irbesartan

Approved, Investigational

Phase 3

138402-11-6

3749

Copper

Approved, Investigational

Phase 3

7440-50-8

27099

Serine

Approved, Nutraceutical

Phase 3

56-45-1

5951

Histidine

Approved, Nutraceutical

Phase 3

71-00-1

6274

Micronutrients

Phase 3,Not Applicable

Trace Elements

Phase 3,Not Applicable

Angiotensin II Type 1 Receptor Blockers

Phase 3

Angiotensin Receptor Antagonists

Phase 3

Angiotensinogen

Phase 3

HIV Protease Inhibitors

Phase 3

protease inhibitors

Phase 3

Serine Proteinase Inhibitors

Phase 3

Vasoconstrictor Agents

Phase 3

Petrolatum

Approved, Investigational

Not Applicable

8009-03-8

Acetylcholine

Approved

Not Applicable

51-84-3

187

Ethanol

Approved

Not Applicable

64-17-5

702

Folic Acid

Approved, Nutraceutical, Vet_approved

Not Applicable

59-30-3

6037

Riboflavin

Approved, Investigational, Nutraceutical, Vet_approved

Not Applicable

83-88-5

493570

Dermatologic Agents

Not Applicable

Photosensitizing Agents

Not Applicable

Vitamin B Complex

Not Applicable

Vitamins

Not Applicable

Antibodies

Immunoglobulins

Folate

Nutraceutical

Not Applicable

Vitamin B2

Nutraceutical

Not Applicable

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

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Genetic Tests for Ehlers-Danlos Syndrome

Genetic tests related to Ehlers-Danlos Syndrome:

#	Genetic test	Affiliating Genes
1	Ehlers-Danlos Syndrome ²⁹

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Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

⁴¹

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

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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 )	Kobets A.J....Houten J.K.	2018
2	Pulmonary Fibrous Nodule with Ossifications as a Hint for Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1. ( 29323927 )	Berezowska S....von Garnier C.	2018
3	Bowel perforation in type IV vascular Ehlers-Danlos syndrome. A systematic review. ( 29700641 )	El Masri H....LeHur P.A.	2018
4	Sleep Disorders and Their Management in Children With Ehlers-Danlos Syndrome Referred to Sleep Clinics. ( 29609717 )	Domany K.A....Simakajornboon N.	2018
5	Gastrointestinal: Huge submucosal hematoma of the stomach arising in a patient with vascular type Ehlers-Danlos syndrome. ( 29961947 )	Kato M....Takehara T.	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 )	Farid A....Rutgers M.	2018
7	Hypermobile Ehlers-Danlos syndrome and rehabilitation: taking stock of evidence based medicine: a systematic review of the literature. ( 29950777 )	Corrado B....Ciardi G.	2018
8	Single-Ventricle Palliation in a 4-Year-Old With Ehlers-Danlos Syndrome. ( 29233360 )	DeBoard Z.M....Griffiths E.	2018
9	Prenatal care and labor in patients with MESENCHIMAL dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia). ( 29938556 )	Makatsariya A....Makatsariya N.	2018
10	A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement. ( 29778910 )	Lan N.S.R....Playford D.	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 )	Blackburn P.R....Atwal P.S.	2018
12	Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. ( 29346445 )	Chiarelli N....Colombi M.	2018
13	A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing. ( 29024828 )	Colombi M....Ritelli M.	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 )	Zoppi N....Colombi M.	2018
15	Ehlers-Danlos Syndrome Type IVB and Tracheobronchomegaly. ( 29261580 )	Girit S....Baysal T.	2018
16	Testicular torsion in a patient with Ehlers-Danlos syndrome. ( 29572364 )	Fowler A.L....Feher E.	2018
17	Low- and high-anxious hypermobile Ehlers-Danlos syndrome patients: comparison of psychosocial and health variables. ( 29497845 )	Baeza-Velasco C....Hamonet C.	2018
18	Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review. ( 29121166 )	Joseph A.W....Kontis T.C.	2018
19	Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review. ( 29357706 )	Baeza-Velasco C....Jaussaud R.	2018
20	Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome. ( 29519641 )	Roma M....Rowe P.C.	2018
21	Spinal Anaesthesia for Cesarean Section in a Patient with Vascular Type Ehlers-Danlos Syndrome. ( 29623224 )	Carness J.M....Lenart M.J.	2018
22	Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection. ( 29216800 )	Gu G....Zheng Y.	2018
23	Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review. ( 29940997 )	Adham S....Frank M.	2018
24	Arthroscopic Anterior and Posterior Glenoid Bone Augmentation With Capsular Plication for Ehlers-Danlos Syndrome With Multidirectional Instability. ( 29868432 )	ARMSTRONG M.D....Wong I.H.	2018
25	Complications and recurrence rates of patients with Ehlers-Danlos syndrome undergoing ventral hernioplasty: a case series. ( 29388078 )	Kroese L.F....Berrevoet F.	2018
26	Hepatobiliary and Pancreatic: Spontaneous hepatic hemorrhage caused by Ehlers-Danlos syndrome. ( 29888804 )	Luo Q....Liu X.	2018
27	The Many Radiological Presentations of Pulmonary Nodules in Type IV Ehlers-Danlos Syndrome. ( 29980309 )	Gorospe SarasA_a L....Arrieta P.	2018
28	Vascular Ehlers-Danlos Syndrome: An Unusual Cause of Chronic Intestinal Failure in a Child. ( 29927864 )	Zemrani B....Bines J.	2018
29	Vascular Ehlers-Danlos Syndrome Presenting as a Pulsatile Neck Mass: a Case Report and Review of Literature. ( 29700788 )	Maraj B....Karaki F.	2018
30	Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. ( 29931299 )	Van Damme T....Malfait F.	2018
31	Ex vivo nonlinear microscopy imaging of Ehlers-Danlos syndrome-affected skin. ( 29725758 )	Kiss N....Medvecz M.	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 )	Pennetti A.	2018
33	Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke. ( 28667723 )	Zahed-Cheikh M....Gire C.	2017
34	Pregnancy and Mesenchimal Dysplasias (Marfan Syndrome, Ehlers-danlos Syndrome, Hereditary Hemorrhagic Telangiectasia). ( 28482718 )	Radetskaya L.S....Khizroeva J.K.	2017
35	Superior Semicircular Canal Dehiscence in a Patient with Ehlers-Danlos Syndrome: A Case Report. ( 28484680 )	Chung L.K....Yang I.	2017
36	Ehlers-Danlos syndrome, classical type. ( 28192633 )	Bowen J.M....Francomano C.A.	2017
37	Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers-Danlos syndrome. ( 28077691 )	Kulas SA...Burcharth J.	2017
38	Ehlers-Danlos syndrome in a young woman with anorexia nervosa and complex somatic symptoms. ( 29247552 )	Lee M....Strand M.	2017
39	Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. ( 28051109 )	Rodgers K.R....Chou R.C.	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 )	Grahame R.	2017
41	Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. ( 28238810 )	Mizumoto S....Sugahara K.	2017
42	Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study. ( 28211643 )	Lisi C....Savasta S.	2017
43	Postural tachycardia in hypermobile Ehlers-Danlos syndrome: A distinct subtype? ( 28986003 )	Miglis M.G....Muppidi S.	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 )	Huynh T.J....Hallam D.K.	2017
45	Chronic fatigue in Ehlers-Danlos syndrome-Hypermobile type. ( 28186393 )	Hakim A....Rowe P.	2017
46	A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family. ( 28183226 )	Cortini F....Bassotti A.	2017
47	Carotid Cavernous Fistula in a Patient with Type IV Ehlers-Danlos Syndrome. ( 28228175 )	Masson-Roy J....Mackey A.	2017
48	Increased Prevalence of Cerebrovascular Disease in Hospitalized Patients with Ehlers-Danlos Syndrome. ( 28647420 )	Kim S.T....Brinjikji W.	2017
49	Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study). ( 28642694 )	Dupuy E.G....Decker L.M.	2017
50	Diagnosis of Ehlers-Danlos syndrome after a first shoulder dislocation. ( 28918999 )	Nourissat G....Deranlot J.	2017

Sources

Genes for Ehlers-Danlos Syndrome

Genes related to Ehlers-Danlos Syndrome (0 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	87.2	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	1757960 8317500 7487954 (more) 11577371 9036918 2365710 9399899 2145268 8526472 18272325 1905723 9649943 8884076 8881656 8477261 14970208 11843319 8019562 8411057 8098182 11359405 10923041 1370809 19751346 18805790 18389341 10051163 1998337 2349939 16863833 15127738 8320698 12694234 9050868 19455184 19639654 19023163 17487505 14966763 18485758 12173720 9841712 11168790 19477391 1352273 7546986
2	PLOD1	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1	Protein Coding	81.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	15979919 8449506 9724729 (more) 8981946 15666309 20503305 7713497 9502428
3	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	73.66	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9499606 8950675 9042913 (more) 16431952 10602121 11992482 15095409 8673139 8923000 10777716 14970208
4	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	71.91	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	16431952
5	ADAMTS2	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2	Protein Coding	69.58	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	10417273 15373769 11408482 (more) 15389701 11741898 12646579
6	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	69.1	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	1990839 15077201 10982177 (more) 8071956 1556139 16816023 10073586 9295084 18272325 1905723 17211858
7	TNXB	Tenascin XB	Protein Coding	68.44	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11642233 11925569 16278880 (more) 15366699 15793839 16567571 12354783 18595676 15102077 17033827 17702048 17078949 15558324 16331473 12845616 9288108 17453911 12376099 18335242 20089348
8	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	68.24	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	18158310 12417421 16583246 (more) 19133250 15859521 15211654
9	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	68.1	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	1990839 1867198 16816023 (more) 18272325 1905723 17211858 9295084 10982177
10	SLC39A13	Solute Carrier Family 39 Member 13	Protein Coding	56.91	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
11	FKBP14	FK506 Binding Protein 14	Protein Coding	56.46	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
12	DSE	Dermatan Sulfate Epimerase	Protein Coding	53.58	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
13	CHST14	Carbohydrate Sulfotransferase 14	Protein Coding	46.05	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
14	B3GALT6	Beta-1,3-Galactosyltransferase 6	Protein Coding	45.04	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
15	C1R	Complement C1r	Protein Coding	42.96	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
16	PLOD3	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 3	Protein Coding	42.22	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries (show sections)	9724729

Sources

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

Sources

Expression for Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome.

Sources

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	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.81	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2	Focal Adhesion ³⁷ ¹ Show member pathways HGF Pathway ⁶⁴ Integrin-mediated Cell Adhesion ¹	12.5	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
3	Collagen chain trimerization ⁶⁶ Show member pathways Anchoring fibril formation ⁶⁶ Assembly of collagen fibrils and other multimeric structures ⁶⁶ Blood Coagulation Cascade ⁶⁴ Collagen biosynthesis and modifying enzymes ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴ Protein digestion and absorption ³⁷	12.48	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4	Chondroitin sulfate/dermatan sulfate metabolism ⁶⁶ Show member pathways A tetrasaccharide linker sequence is required for GAG synthesis ⁶⁶ chondroitin biosynthesis ¹ Chondroitin sulfate biosynthesis ⁶⁶ CS/DS degradation ⁶⁶ Defective B3GALT6 causes EDSP2 and SEMDJL1 ⁶⁶ Defective B3GAT3 causes JDSSDHD ⁶⁶ Defective B4GALT7 causes EDS, progeroid type ⁶⁶ Defective CHST14 causes EDS, musculocontractural type ⁶⁶ Defective CHST3 causes SEDCJD ⁶⁶ Defective CHSY1 causes TPBS ⁶⁶ Defective EXT1 causes exostoses 1, TRPS2 and CHDS ⁶⁶ Defective EXT2 causes exostoses 2 ⁶⁶ dermatan sulfate biosynthesis ¹ Dermatan sulfate biosynthesis ⁶⁶ dermatan sulfate biosynthesis (late stages) ¹ Diseases associated with glycosaminoglycan metabolism ⁶⁶ glycoaminoglycan-protein linkage region biosynthesis ¹ Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate ³⁷ Glypican pathway ¹ HS-GAG degradation ⁶⁶ Proteogylcan syndecan-mediated signaling events ¹	12.3	B3GALT6 B4GALT7 CHST14 DSE
5	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	11.93	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6	ECM-receptor interaction ³⁷ Show member pathways Integrin cell surface interactions ⁶⁶	11.9	COL1A1 COL1A2 TNXB
7	Platelet activation ³⁷	11.78	COL1A1 COL1A2 COL3A1
8	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁶ Show member pathways Scavenging by Class A Receptors ⁶⁶ Scavenging by Class B Receptors ⁶⁶ Scavenging by Class F Receptors ⁶⁶ Scavenging by Class H Receptors ⁶⁶ Scavenging of heme from plasma ⁶⁶	11.67	COL1A1 COL1A2 COL3A1
9	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.63	COL1A1 COL1A2 COL3A1
10	Amoebiasis ³⁷	11.59	COL1A1 COL1A2 COL3A1
11	Cell adhesion_ECM remodeling ²²	11.37	COL1A1 COL1A2 COL3A1
12	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶¹	11.25	COL1A1 COL1A2 COL3A1
13	Inflammatory Response Pathway ¹	11.02	COL1A1 COL1A2 COL3A1
14	miRNA targets in ECM and membrane receptors ¹	10.99	COL1A2 COL3A1 COL5A1 COL5A2 TNXB
15	VEGFR3 signaling in lymphatic endothelium ¹	10.9	COL1A1 COL1A2

Sources

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

Sources for Ehlers-Danlos Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia