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

EDS MCID: EHL001 MIFTS: 61	Ehlers-Danlos Syndrome (EDS) Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin 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

Ehlersdanlos Syndrome ⁷⁶

Ehlers Danlos Disease ²⁵

Cutis Hyperelastica ¹²

Ed Syndrome ⁵³

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Skin diseases Bone diseases Blood 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 2300005

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, sciatica and muscle cramp. An important gene associated with Ehlers-Danlos Syndrome is COL3A1 (Collagen Type III Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Celiprolol and Sympathomimetics have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, 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 475)

#	Related Disease	Score	Top Affiliating Genes
1	ehlers-danlos syndrome, vascular type	35.0	COL3A1 COL5A1
2	ehlers-danlos syndrome, classic type, 2	34.6	COL1A1 COL3A1 COL5A1 COL5A2
3	ehlers-danlos syndrome, classic type, 1	34.5	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4	hypermobile ehlers-danlos syndrome	34.3	COL1A1 FKBP14 PLOD1
5	spondylodysplastic ehlers-danlos syndrome	34.2	B3GALT6 B4GALT7
6	musculocontractural ehlers-danlos syndrome	34.1	CHST14 DSE
7	classic ehlers-danlos syndrome	34.1	COL1A1 COL1A2 COL5A1 COL5A2 TNXB
8	ehlers-danlos syndrome progeroid type	34.0	B3GALT6 B4GALT7
9	brittle cornea syndrome 2	33.7	CHST14 COL5A1 PLOD1
10	connective tissue disease	32.1	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 PLOD1
11	hypermobility syndrome	31.4	C1R COL3A1 COL5A1 TNXB
12	brittle bone disorder	31.1	COL1A1 COL1A2 COL3A1
13	ehlers-danlos/osteogenesis imperfecta syndrome	31.0	COL1A1 COL1A2
14	marfan syndrome	30.9	COL1A2 COL3A1 COL5A2
15	pelvic organ prolapse	30.6	COL1A1 COL3A1 TNXB
16	hypomelanosis of ito	30.4	COL5A1 PLOD1
17	cervical incompetence	30.4	COL5A2 PLOD1
18	congenital contractures	30.3	CHST14 PLOD1
19	scoliosis	30.1	COL1A1 COL1A2 PLOD1
20	ehlers-danlos syndrome, classic-like	13.0
21	ehlers-danlos syndrome, hypermobility type	13.0
22	ehlers-danlos syndrome, periodontal type, 1	13.0
23	ehlers-danlos syndrome, kyphoscoliotic type, 2	13.0
24	ehlers-danlos syndrome, dermatosparaxis type	13.0
25	ehlers-danlos syndrome, arthrochalasia type, 1	12.9
26	ehlers-danlos syndrome, kyphoscoliotic type, 1	12.9
27	ehlers-danlos syndrome, spondylodysplastic type, 3	12.9
28	ehlers-danlos syndrome, cardiac valvular type	12.9
29	ehlers-danlos syndrome, arthrochalasia type, 2	12.8
30	ehlers-danlos syndrome, musculocontractural type, 1	12.8
31	ehlers-danlos syndrome, spondylodysplastic type, 1	12.8
32	kyphoscoliotic ehlers-danlos syndrome	12.8
33	ehlers-danlos syndrome, musculocontractural type, 2	12.7
34	ehlers-danlos syndrome, spondylodysplastic type, 2	12.7
35	ehlers-danlos syndrome, periodontal type, 2	12.7
36	ehlers-danlos syndrome, classic-like, 2	12.7
37	ehlers-danlos syndrome, type v	12.7
38	ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality	12.6
39	periodontal ehlers-danlos syndrome	12.6
40	arthrochalasia ehlers-danlos syndrome	12.6
41	plod1-related kyphoscoliotic ehlers-danlos syndrome	12.5
42	ehlers-danlos syndrome, arthrochalasis type	12.5
43	ehlers-danlos syndrome, vascular-like type	12.4
44	ehlers-danlos syndrome type 7b	12.4
45	type i ehlers-danlos syndrome	12.4
46	ehlers-danlos syndrome, autosomal dominant, type unspecified	12.3
47	ehlers-danlos syndrome, beasley-cohen type	12.3
48	autosomal recessive type iv ehlers-danlos syndrome	12.3
49	occipital horn syndrome	12.3
50	brittle cornea syndrome 1	12.1

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, sciatica, muscle cramp

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

⁴⁶

#	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	ADAMTS2 CHST14 COL1A1 COL1A2 COL3A1 COL5A1
4	skeleton	MP:0005390	9.23	ADAMTS2 CHST14 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 45)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Celiprolol

Approved, Investigational

Phase 4

56980-93-9

Sympathomimetics

Phase 4

Antihypertensive Agents

Phase 4,Phase 3

Neurotransmitter Agents

Phase 4

Autonomic Agents

Phase 4

Peripheral Nervous System Agents

Phase 4

Adrenergic beta-Antagonists

Phase 4

Adrenergic Antagonists

Phase 4

Adrenergic Agents

Phase 4

Anti-Arrhythmia Agents

Phase 4

Adrenergic beta-1 Receptor Antagonists

Phase 4

Vasodilator Agents

Phase 4

Irbesartan

Approved, Investigational

Phase 3

138402-11-6

3749

Angiotensin II

Approved, Investigational

Phase 3

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

172198 65143

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

Vasoconstrictor Agents

Phase 3

Angiotensin II Type 1 Receptor Blockers

Phase 3

protease inhibitors

Phase 3

HIV Protease Inhibitors

Phase 3

Angiotensin Receptor Antagonists

Phase 3

Angiotensinogen

Phase 3

Serine Proteinase Inhibitors

Phase 3

Angiotensin II Type 2 Receptor Blockers

Phase 3

Mecasermin

Approved, Investigational

Not Applicable

68562-41-4

Petrolatum

Approved, Investigational

Not Applicable

8009-03-8

Calcium polycarbophil

Approved

Not Applicable

126040-58-2

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

Folate

Not Applicable

Vitamin B2

Not Applicable

Vitamins

Not Applicable

Photosensitizing Agents

Not Applicable

Vitamin B9

Not Applicable

Dermatologic Agents

Not Applicable

Vitamin B Complex

Not Applicable

Psyllium

Not Applicable

Antibodies

Immunologic Factors

Immunoglobulins

Interventional clinical trials:

(show all 38)

#	Name	Status	NCT ID	Phase	Drugs
1	Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type	Completed	NCT00190411	Phase 4	celiprolol;Control
2	Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome (ARCADE)	Recruiting	NCT02597361	Phase 3	Irbesartan;Placebo
3	Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency	Active, not recruiting	NCT00811785	Phase 3	Copper Histidine
4	Mind-Body Therapy for Pain in Ehlers-Danlos Syndrome	Completed	NCT00001966	Phase 2	Mind-body therapy
5	Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI	Unknown status	NCT01307527	Not Applicable	Riboflavin
6	Development of a Blood Test for Marfan Syndrome	Unknown status	NCT02148900
7	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	Not Applicable	mecasermin;Saline
14	Non-Invasive Quantitative Imaging of Human Local Arterial Wall Elasticity Using Supersonic Shear Imaging	Completed	NCT01096264	Not Applicable
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	Compare the Aesthetic Effect of Different Thyroidectomies	Completed	NCT03239769	Not Applicable
19	Effects of Different Support Surfaces on the Properties Skin After Loading	Completed	NCT02930590	Not Applicable
20	Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos Syndrome	Recruiting	NCT02144532	Not Applicable
21	Genetics of Ehlers-Danlos Syndrome	Recruiting	NCT03093493
22	Impact Study on Cerecare Compression Garments in the Treatment of Ehlers-Danlos Syndromes	Recruiting	NCT03451188
23	Prevalence of FODMAP Intolerance and JHS in FGID and Association With Microbiome, Dyssynergic Defecation and Dietary Intervention	Recruiting	NCT03460613	Not Applicable
24	Concentration and Attentional Deficits in POTS and Other Autonomic Neuropathies	Recruiting	NCT03681080	Not Applicable
25	Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan	Recruiting	NCT02985710	Not Applicable
26	Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging	Recruiting	NCT02538822	Not Applicable
27	Pathogenetic Basis of Aortopathy and Aortic Valve Disease	Recruiting	NCT03440697
28	Two Point Discrimination	Recruiting	NCT03686748	Early Phase 1
29	The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children	Recruiting	NCT02854098
30	Standing Cognition and Co-morbidities of POTS Evaluation	Active, not recruiting	NCT03602482	Not Applicable
31	Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia Syndrome	Active, not recruiting	NCT02196376
32	Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients	Active, not recruiting	NCT02761928
33	Origins and Impact of EDS in Connective Tissues and Skin	Enrolling by invitation	NCT02721797
34	Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome	Not yet recruiting	NCT03596437	Not Applicable
35	Compression Garments on Hypermobility Type of Ehlers-Danlos Syndrome (CGhEDS)	Not yet recruiting	NCT03359135
36	Efficiency Clinical Study of NOVATEX MEDICAL Pressure Garments in Patients With Ehlers-Danlos Syndrome	Not yet recruiting	NCT03330977	Not Applicable
37	Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome	Not yet recruiting	NCT03575182	Not Applicable
38	Head Circumference Growth in Children Who Develop Multiple Sclerosis Later in Life	Withdrawn	NCT01377805

Search NIH Clinical Center for Ehlers-Danlos Syndrome

Cochrane evidence based reviews: ehlers-danlos syndrome

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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

Sources

Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

⁴¹

Skin, Bone, Lung, Colon, Breast, Heart, Brain

Sources

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

(show top 50) (show all 1249)

#	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	In reply to &quot;Mast Cell Disorders in Ehlers-Danlos Syndrome&quot;. ( 29130629 )	Vengoechea J.	2018
10	Prenatal care and labor in patients with MESENCHIMAL dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia). ( 29938556 )	Makatsariya A....Makatsariya N.	2018
11	A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement. ( 29778910 )	Lan N.S.R....Playford D.	2018
12	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
13	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
14	A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing. ( 29024828 )	Colombi M....Ritelli M.	2018
15	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
16	Ehlers-Danlos Syndrome Type IVB and Tracheobronchomegaly. ( 29261580 )	Girit S....Baysal T.	2018
17	Testicular torsion in a patient with Ehlers-Danlos syndrome. ( 29572364 )	Fowler A.L....Feher E.	2018
18	Low- and high-anxious hypermobile Ehlers-Danlos syndrome patients: comparison of psychosocial and health variables. ( 29497845 )	Baeza-Velasco C....Hamonet 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 )		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	Angioid Streaks Are Not a Common Feature of Ehlers Danlos Syndrome. ( 30543351 )	Singman EL...Doyle JJ	2018
34	Bilateral Vertebral Artery Dissection and Unilateral Carotid Artery Dissection in a Case of Ehlers-Danlos Syndrome Type IV. ( 30315974 )	Ohshima T...Takayasu M	2018
35	Hemostatic abnormalities in patients with Ehlers-Danlos syndrome. ( 30312027 )	Artoni A...Martinelli I	2018
36	Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study. ( 30342098 )	Aghajanyan A...Konjevoda P	2018
37	Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review. ( 30357907 )	Frank M...Jeunemaitre X	2018
38	Unusual complicated fungal endocarditis in a patient with vascular Ehlers-Danlos Syndrome. ( 30359590 )	Khalique Z...Mohiaddin R	2018
39	Bilateral Superior Semicircular Canal Dehiscence associated with Ehlers-Danlos Syndrome: A Report of Two Cases. ( 30385359 )	Preet K...Yang I	2018
40	The erector spinae plane block in a high-risk Ehlers-Danlos syndrome pediatric patient for vascular ring repair. ( 30391449 )	Wyatt K...Elattary T	2018
41	Selective Shunt Occlusion of Direct Carotid-Cavernous Fistula with Vascular Ehlers-Danlos Syndrome by Multidevice Technique: A Case Report and Technical Note. ( 30391766 )	Ito Y...Takahashi JC	2018
42	Management of chronic pain in Ehlers-Danlos syndrome: Two case reports and a review of literature. ( 30407326 )	Zhou Z...Shanthanna H	2018
43	Physical and mechanical therapies for lower limb symptoms in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome: a systematic review. ( 30455744 )	Peterson B...Hawke F	2018
44	Identification of a de novo case of COL5A1-related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care. ( 30455932 )	Wardeh A...Maj MC	2018
45	Long-term treatment with linaclotide of intestinal pseudo-obstruction secondary to Ehlers-Danlos syndrome. ( 30470553 )	Bassotti G...Villanacci V	2018
46	Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder. ( 30471081 )	Morlino S...Castori M	2018
47	Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. ( 30474650 )	Legrand A...Jeunemaitre X	2018
48	Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome. ( 30485858 )	St?berl AS...Kohler M	2018
49	Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy. ( 30535813 )	Kapferer-Seebacher I...van der Knaap MS	2018
50	Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome. ( 30554346 )	Formenti AM...Giustina A	2018

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	86.64	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	81.73	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	73.73	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	71.85	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	69.43	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	69.12	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	68.94	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	68.3	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	68.06	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	56.95	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
11	FKBP14	FKBP Prolyl Isomerase 14	Protein Coding	56.19	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
12	DSE	Dermatan Sulfate Epimerase	Protein Coding	53.44	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
13	CHST14	Carbohydrate Sulfotransferase 14	Protein Coding	45.95	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
14	B3GALT6	Beta-1,3-Galactosyltransferase 6	Protein Coding	44.96	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
15	C1R	Complement C1r	Protein Coding	43.23	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
16	PLOD3	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 3	Protein Coding	41.94	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.3938A> G (p.Lys1313Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111840783	GRCh37	Chromosome 2, 189875018: 189875018
2	COL3A1	NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs111840783	GRCh38	Chromosome 2, 189010292: 189010292
3	COL3A1	NM_000090.3(COL3A1): c.754G> T (p.Gly252Cys)	single nucleotide variant	Likely pathogenic	rs587779705	GRCh37	Chromosome 2, 189855042: 189855042
4	COL3A1	NM_000090.3(COL3A1): c.754G> T (p.Gly252Cys)	single nucleotide variant	Likely pathogenic	rs587779705	GRCh38	Chromosome 2, 188990316: 188990316
5	COL5A1	NM_000093.4(COL5A1): c.5136+73G> A	single nucleotide variant	Uncertain significance	rs560195385	GRCh37	Chromosome 9, 137721963: 137721963
6	COL5A1	NM_000093.4(COL5A1): c.5136+73G> A	single nucleotide variant	Uncertain significance	rs560195385	GRCh38	Chromosome 9, 134830117: 134830117
7	COL3A1	NM_000090.3(COL3A1): c.1173delT (p.Pro392Leufs)	deletion	Likely pathogenic		GRCh37	Chromosome 2, 189858787: 189858787
8	COL3A1	NM_000090.3(COL3A1): c.1173delT (p.Pro392Leufs)	deletion	Likely pathogenic		GRCh38	Chromosome 2, 188994061: 188994061
9	COL3A1	NM_000090.3(COL3A1): c.1509+2T> C	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 2, 189859827: 189859827
10	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 17)

#	Super pathways	Score	Top Affiliating Genes
1	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.84	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2	Focal Adhesion ¹ ³⁷ 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	12.33	B3GALT6 B4GALT7 CHST14 DSE
5	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins ²² Show member pathways G-protein signaling G-Protein alpha-12 signaling pathway ²²	11.96	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6	Degradation of the extracellular matrix ⁶⁶ Show member pathways Collagen degradation ⁶⁶ Extracellular matrix organization ⁶⁶	11.93	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
7	ECM-receptor interaction ³⁷ Show member pathways Integrin cell surface interactions ⁶⁶	11.92	COL1A1 COL1A2 TNXB
8	Platelet activation ³⁷	11.8	COL1A1 COL1A2 COL3A1
9	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	11.7	COL1A1 COL1A2 COL3A1
10	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.67	COL1A1 COL1A2 COL3A1
11	Amoebiasis ³⁷	11.64	COL1A1 COL1A2 COL3A1
12	Cell adhesion_ECM remodeling ²²	11.37	COL1A1 COL1A2 COL3A1
13	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶¹	11.25	COL1A1 COL1A2 COL3A1
14	Inflammatory Response Pathway ¹	11.02	COL1A1 COL1A2 COL3A1
15	miRNA targets in ECM and membrane receptors ¹	10.99	COL1A2 COL3A1 COL5A1 COL5A2 TNXB
16	VEGFR3 signaling in lymphatic endothelium ¹	10.92	COL1A1 COL1A2
17	G-protein signaling_Rap2B regulation pathway ²²	10.73	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

Sources

GO Terms for Ehlers-Danlos Syndrome

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum	GO:0005783	9.97	B3GALT6 COL1A1 COL1A2 DSE FKBP14 PLOD1
2	endoplasmic reticulum lumen	GO:0005788	9.73	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 FKBP14
3	collagen trimer	GO:0005581	9.55	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4	extracellular matrix	GO:0031012	9.5	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5	rough endoplasmic reticulum membrane	GO:0030867	9.48	PLOD1 PLOD3
6	collagen type V trimer	GO:0005588	9.4	COL5A1 COL5A2
7	collagen type I trimer	GO:0005584	9.32	COL1A1 COL1A2
8	collagen-containing extracellular matrix	GO:0062023	9.23	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
9	extracellular region	GO:0005576	10.1	ADAMTS2 C1R COL1A1 COL1A2 COL3A1 COL5A1
10	extracellular space	GO:0005615	10.03	C1R COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
11	Golgi apparatus	GO:0005794	10	B3GALT6 B4GALT7 CHST14 COL1A1 DSE PLOD3

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

(show all 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	skeletal system development	GO:0001501	9.8	COL1A1 COL1A2 COL3A1 COL5A2
2	platelet activation	GO:0030168	9.75	COL1A1 COL1A2 COL3A1
3	extracellular matrix organization	GO:0030198	9.63	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
4	cellular response to amino acid stimulus	GO:0071230	9.62	COL1A1 COL1A2 COL3A1 COL5A2
5	chondroitin sulfate biosynthetic process	GO:0030206	9.59	B3GALT6 DSE
6	heparan sulfate proteoglycan biosynthetic process	GO:0015012	9.58	B3GALT6 DSE
7	collagen metabolic process	GO:0032963	9.58	PLOD1 PLOD3 TNXB
8	glycosaminoglycan metabolic process	GO:0030203	9.57	B3GALT6 B4GALT7
9	protein heterotrimerization	GO:0070208	9.56	COL1A1 COL1A2
10	blood vessel development	GO:0001568	9.56	COL1A1 COL1A2 COL3A1 COL5A1
11	dermatan sulfate biosynthetic process	GO:0030208	9.55	CHST14 DSE
12	collagen biosynthetic process	GO:0032964	9.54	COL1A1 COL5A1
13	supramolecular fiber organization	GO:0097435	9.54	B4GALT7 COL3A1 COL5A1
14	skin morphogenesis	GO:0043589	9.52	COL1A1 COL1A2
15	peptidyl-lysine hydroxylation	GO:0017185	9.51	PLOD1 PLOD3
16	eye morphogenesis	GO:0048592	9.48	COL5A1 COL5A2
17	hydroxylysine biosynthetic process	GO:0046947	9.46	PLOD1 PLOD3
18	negative regulation of endodermal cell differentiation	GO:1903225	9.43	COL5A1 COL5A2
19	skin development	GO:0043588	9.35	ADAMTS2 COL1A1 COL3A1 COL5A1 COL5A2
20	collagen fibril organization	GO:0030199	9.28	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	integrin binding	GO:0005178	9.63	COL3A1 COL5A1 TNXB
2	extracellular matrix structural constituent	GO:0005201	9.63	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
3	protease binding	GO:0002020	9.61	COL1A1 COL1A2 COL3A1
4	SMAD binding	GO:0046332	9.54	COL1A2 COL3A1 COL5A2
5	galactosyltransferase activity	GO:0008378	9.49	B3GALT6 B4GALT7
6	L-ascorbic acid binding	GO:0031418	9.48	PLOD1 PLOD3
7	procollagen glucosyltransferase activity	GO:0033823	9.32	PLOD1 PLOD3
8	procollagen-lysine 5-dioxygenase activity	GO:0008475	9.26	PLOD1 PLOD3
9	platelet-derived growth factor binding	GO:0048407	9.26	COL1A1 COL1A2 COL3A1 COL5A1
10	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.02	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
11	metal ion binding	GO:0046872	10.1	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

Ehlers-Danlos Syndrome (EDS)

Aliases & Classifications for Ehlers-Danlos Syndrome

MalaCards integrated aliases for Ehlers-Danlos Syndrome:

Classifications:

External Ids:

Summaries for Ehlers-Danlos Syndrome

Related Diseases for Ehlers-Danlos Syndrome

Diseases in the Ehlers-Danlos Syndrome family:

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

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome:

Symptoms & Phenotypes for Ehlers-Danlos Syndrome

UMLS symptoms related to Ehlers-Danlos Syndrome:

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

Drugs & Therapeutics for Ehlers-Danlos Syndrome

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

Interventional clinical trials:

Cochrane evidence based reviews: ehlers-danlos syndrome

Genetic Tests for Ehlers-Danlos Syndrome

Genetic tests related to Ehlers-Danlos Syndrome:

Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

Genes for Ehlers-Danlos Syndrome

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

Variations for Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Ehlers-Danlos Syndrome:

Copy number variations for Ehlers-Danlos Syndrome from CNVD:

Expression for Ehlers-Danlos Syndrome

Pathways for Ehlers-Danlos Syndrome

Pathways related to Ehlers-Danlos Syndrome according to KEGG:

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

GO Terms for Ehlers-Danlos Syndrome

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

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

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

Sources for Ehlers-Danlos Syndrome