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

EDS MCID: EHL001 MIFTS: 64	Ehlers-Danlos Syndrome (EDS) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Ehlers-Danlos Syndrome

MalaCards integrated aliases for Ehlers-Danlos Syndrome:

Name: Ehlers-Danlos Syndrome ¹¹ ⁴² ⁵⁸ ⁷⁵ ²⁸ ⁵³ ⁵ ⁴¹ ⁴³ ¹⁴ ³⁸ ⁷¹ ³¹ ³³

Eds ¹⁹ ⁴² ⁵⁸

Ehlers-Danlos Syndromes ¹⁹ ⁷⁵

Cutis Hyperelastica ¹¹ ³³

Elastic Skin ¹¹ ⁵³

Eds - [ehlers-Danlos Syndrome] ³³

Ehlers Danlos Syndrome ¹⁹

Ehlers Danlos Disease ⁴²

Ed Syndrome ¹⁹

Characteristics:

Inheritance:

Autosomal dominant,Autosomal recessive,X-linked recessive ⁵⁸

Prevelance:

1-9/1000000 (Europe) ⁵⁸

Age Of Onset:

Infancy,Neonatal ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

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

ICD11: ³³

Developmental anomalies

Multiple developmental anomalies or syndromes

Syndromes with connective tissue involvement as a major feature

Ehlers-Danlos syndrome

Other specified types of Ehlers-Danlos syndrome

Orphanet: ⁵⁸

Rare systemic and rhumatological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:13359

ICD9CM ³⁴ 756.83

MeSH ⁴³ D004535

NCIt ⁴⁹ C34568

SNOMED-CT ⁶⁸ 268352002

ICD10 ³¹ Q79.6

MESH via Orphanet ⁴⁴ D004535

ICD10 via Orphanet ³² Q79.6

UMLS via Orphanet ⁷² C0013720

Orphanet ⁵⁸ ORPHA98249

ICD11 ³³ 1122707206 1122707206/other

UMLS ⁷¹ C0013720

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Summaries for Ehlers-Danlos Syndrome

MedlinePlus Genetics: ⁴² 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.The various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.An unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.

MalaCards based summary: Ehlers-Danlos Syndrome, also known as eds, is related to ehlers-danlos syndrome, classic type, 1 and ehlers-danlos syndrome, classic-like, 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 Phospholipase-C Pathway and PI3K-Akt signaling pathway. The drugs Irbesartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include skin, uterus and lung, and related phenotypes are growth/size/body region and cardiovascular system

Orphanet: ⁵⁸ A heterogeneous group of diseases characterized by fragility of the soft connective tissues resulting in widespread skin, ligament, joint, blood vessel and/or internal organ manifestations. Clinical spectrum is highly variable, ranging from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. Overlap with osteogenesis imperfecta may be observed resulting in an EDS/osteogenesis imperfecta overlap phenotype. Diseases in this group include classical Ehlers-Danlos syndrome (EDS), musculocontractural EDS, hypermobile EDS, vascular EDS, arthrochalasia EDS, dermatosparaxis EDS, periodontal EDS, X-linked EDS, brittle cornea syndrome, classical-like EDS type 1 and type 2, cardiac-valvular EDS, spondylodysplastic EDS, myopathic EDS, and kyphoscoliotic EDS.

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.

GARD: ¹⁹ 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 symptoms of EDS vary by type and range from mildly loose joints to serious complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Genetic changes in a variety of genes may lead to EDS. However, the underlying genetic cause in some families is unknown. Depending on the type, EDS may be inherited in an autosomal dominant or an autosomal recessive manner.

Disease Ontology: ¹¹ 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: ⁷⁵ Ehlers-Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders in the current... more...

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Related Diseases for Ehlers-Danlos Syndrome

Diseases in the Ehlers-Danlos Syndrome family:

Autosomal Recessive Type Iv Ehlers-Danlos Syndrome

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

(show top 50) (show all 861)

#	Related Disease	Score	Top Affiliating Genes
1	ehlers-danlos syndrome, classic type, 1	33.9	PLOD1 LOC101448202 FKBP14 COL5A2 COL5A1 COL3A1
2	ehlers-danlos syndrome, classic-like	33.9	TNXB LOC106780803
3	ehlers-danlos syndrome, hypermobility type	33.9	TNXB SLC39A13 COL5A1 COL3A1
4	hypermobile ehlers-danlos syndrome	33.8	TNXB PLOD1 LOC101448202 FKBP14 COL5A2 COL5A1
5	ehlers-danlos syndrome, arthrochalasia type, 1	33.8	COL1A2 COL1A1
6	ehlers-danlos syndrome, classic type, 2	33.8	LOC101448202 COL5A2 COL5A1 COL3A1
7	ehlers-danlos syndrome, kyphoscoliotic type, 2	33.7	PLOD1 FKBP14
8	classic ehlers-danlos syndrome	33.7	TNXB LOC101448202 COL5A2 COL5A1 COL1A2 COL1A1
9	ehlers-danlos syndrome, arthrochalasia type, 2	33.6	COL1A2 COL1A1
10	brittle cornea syndrome 1	33.3	ZNF469 PRDM5
11	brittle cornea syndrome 2	33.2	ZNF469 PRDM5
12	connective tissue disease	33.2	TNXB SMAD3 PLOD1 COL5A2 COL5A1 COL3A1
13	aortic aneurysm, familial thoracic 1	32.9	TGFB2 SMAD3 PLOD1 LOC101448202 COL5A2 COL5A1
14	orthostatic intolerance	32.8	TNXB TGFB2 SMAD3 PLOD1 COL5A2 COL5A1
15	postural orthostatic tachycardia syndrome	32.8	TNXB FKBP14 COL5A2 COL5A1
16	loeys-dietz syndrome	32.7	ZNF469 TNXB TGFB2 SMAD3 PLOD1 FKBP14
17	ehlers-danlos/osteogenesis imperfecta syndrome	32.7	COL1A2 COL1A1
18	loeys-dietz syndrome 2	32.4	TGFB2 SMAD3
19	hypermobility syndrome	32.3	TNXB SLC39A13 PLOD1 FKBP14 COL5A2 COL5A1
20	brittle bone disorder	32.0	ZNF469 TNXB SLC39A13 PRDM5 PLOD3 PLOD1
21	caspase 8 deficiency	32.0	TNXB PLOD1 FKBP14 COL5A2 COL5A1 B4GALT7
22	aortic aneurysm, familial thoracic 4	32.0	TGFB2 SMAD3 PLOD1 LOC101448202 COL5A2 COL5A1
23	marfan syndrome	31.9	TGFB2 COL5A2 COL3A1 COL1A2 COL1A1
24	aortic dissection	31.7	TGFB2 SMAD3 COL5A2 COL5A1 COL3A1
25	collagen disease	31.7	ZNF469 TNXB SLC39A13 PLOD1 FKBP14 DSE
26	osteogenesis imperfecta, type i	31.7	COL1A2 COL1A1 ADAMTS2
27	pelvic organ prolapse	31.6	SMAD3 COL3A1 COL1A2 COL1A1 ADAMTS2
28	bladder diverticulum	31.6	PLOD1 FKBP14
29	umbilical hernia	31.4	PLOD1 DSE ADAMTS2
30	keratoconus	31.4	ZNF469 TGFB2 PRDM5 COL5A1 COL1A1
31	carotid artery dissection	31.4	COL5A2 COL3A1
32	osteochondrodysplasia	31.3	ZNF469 SLC39A13 PLOD1 COL5A2 COL5A1 COL3A1
33	osteogenesis imperfecta, type ii	31.3	TNXB COL5A2 COL5A1 COL1A2 COL1A1 ADAMTS2
34	chiari malformation	31.3	COL5A2 COL1A2
35	arterial tortuosity syndrome	31.2	TGFB2 SMAD3 COL5A1 COL3A1
36	aortic valve disease 1	31.2	TGFB2 SMAD3 COL5A2 COL5A1 COL3A1 COL1A1
37	loeys-dietz syndrome 1	31.0	TGFB2 SMAD3
38	patent ductus arteriosus 1	31.0	TGFB2 SMAD3 COL3A1
39	aortic disease	30.8	TGFB2 SMAD3 COL3A1
40	osteogenesis imperfecta, type vi	30.8	COL1A2 COL1A1
41	tricuspid valve prolapse	30.8	PLOD1 FKBP14 COL5A2 COL5A1 COL3A1
42	systemic scleroderma	30.8	SMAD3 COL1A2 COL1A1
43	osteogenesis imperfecta, type iii	30.8	COL1A2 COL1A1 ADAMTS2
44	glaucoma, primary open angle	30.6	ZNF469 TGFB2 COL5A1
45	corneal ectasia	30.5	ZNF469 COL5A1
46	ehlers-danlos syndrome, vascular type	12.2
47	ehlers-danlos syndrome, kyphoscoliotic type, 1	12.1
48	ehlers-danlos syndrome, spondylodysplastic type, 1	12.1
49	ehlers-danlos syndrome, spondylodysplastic type, 2	12.0
50	ehlers-danlos syndrome, dermatosparaxis type	12.0

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:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.18	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2	cardiovascular system	MP:0005385	10.02	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 PLOD1
3	skeleton	MP:0005390	9.81	ADAMTS2 COL1A1 COL1A2 COL5A2 PLOD3 PRDM5
4	respiratory system	MP:0005388	9.8	ADAMTS2 C1R COL1A1 COL3A1 COL5A2 PLOD3
5	vision/eye	MP:0005391	9.73	ADAMTS2 C1R COL1A1 COL1A2 COL5A1 COL5A2
6	integument	MP:0010771	9.47	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

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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 47)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Irbesartan

Approved, Investigational

Phase 3

138402-11-6

3749

Angiotensin II

Approved, Investigational

Phase 3

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

172198

Celiprolol

Approved, Investigational

Phase 3

56980-93-9

2663

Lidocaine

Approved, Vet_approved

Phase 3

137-58-6

3676

Angiotensinogen

Phase 3

16133225

Angiotensin Receptor Antagonists

Phase 3

Angiotensin II Type 1 Receptor Blockers

Phase 3

Giapreza

Phase 3

Antihypertensive Agents

Phase 3

Adrenergic beta-Antagonists

Phase 3

Adrenergic beta-1 Receptor Antagonists

Phase 3

Adrenergic Antagonists

Phase 3

Adrenergic Agents

Phase 3

Neurotransmitter Agents

Phase 3

Vasodilator Agents

Phase 3

Sympathomimetics

Phase 3

Anti-Arrhythmia Agents

Phase 3

Sodium Channel Blockers

Phase 3

Anesthetics, Local

Phase 3

Anesthetics

Phase 3

Diuretics, Potassium Sparing

Phase 3

Pharmaceutical Solutions

Phase 3

Droxidopa

Approved, Investigational

Phase 1, Phase 2

23651-95-8

443940 92974

Oxytocin

Approved, Vet_approved

Phase 1, Phase 2

50-56-6

439302 53477758

Antiparkinson Agents

Phase 1, Phase 2

Acetylcholine

Approved, Investigational

51-84-3

187

Ethanol

Approved

64-17-5

702

Mecasermin

Approved, Investigational

68562-41-4

Thrombin

Approved, Investigational

Bupivacaine

Approved, Investigational

2180-92-9, 38396-39-3

2474

Folic acid

Approved, Nutraceutical, Vet_approved

59-30-3

6037

Riboflavin

Approved, Investigational, Nutraceutical, Vet_approved

83-88-5

493570

Folate

Vitamins

Vitamin B9

Trace Elements

Photosensitizing Agents

Vitamin B2

Vitamin B Complex

Dermatologic Agents

Micronutrients

Anti-Inflammatory Agents

Analgesics, Opioid

Liver Extracts

Immunoglobulins

Antibodies

Hemostatics

Interventional clinical trials:

(show top 50) (show all 58)

#	Name	Status	NCT ID	Phase	Drugs
1	Prevention of Vascular Complications by BetaBlocker Treatment in Vascular Ehlers-Danlos Syndrome	Completed	NCT00190411	Phase 4	celiprolol;Control
2	Local Anesthetic Response in Ehlers-Danlos Syndrome (EDS) and Healthy Volunteers	Recruiting	NCT05603741	Phase 4	0.9% Sodium Chloride Injection;Lidocaine Injection 2%
3	Impact of Oxygen Therapy on Fatigue in Patients With Hypermobile-type Ehlers-Danlos Syndrome: a Randomised Double-blind Placebo-controlled Study	Recruiting	NCT04890431	Phase 4	Oxygen;Placebo
4	Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome: a Double Blind, Randomized, Placebo Controlled, Multicenter Trial.	Completed	NCT02597361	Phase 3	Irbesartan;Placebo
5	A Phase 3 Randomized, Double-Blind, Decentralized Clinical Trial to Compare the Efficacy of Celiprolol to Placebo in the Treatment of Patients With COL3A1-Positive Vascular Ehlers-Danlos Syndrome	Recruiting	NCT05432466	Phase 3	ACER-002 (celiprolol) 200 mg BID;Placebo BID
6	The Use of Ultrasound-Guided Dextrose Prolotherapy in Low Back Pain in Patients With Hypermobile-Type, Ehlers-Danlos Syndrome	Not yet recruiting	NCT05279937	Phase 3	Dextrose 50% Intravenous Solution;Lidocaine 1% Injectable Solution
7	A Multicenter, Randomized, Double-blind, Placebo-controlled Study of Enzastaurin for the Prevention of Arterial Events in Patients With Vascular Ehlers-Danlos Syndrome (vEDS) Confirmed With COL3A1 Mutations, Followed by an Open Label Extension (OLE)	Suspended	NCT05463679	Phase 3	Enzastaurin;Placebo
8	A Pilot Study of Mind-Body Therapy for Chronic Pain in Ehlers-Danlos Syndrome	Completed	NCT00001966	Phase 2	Mind-body therapy
9	Phase I/II Study of NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Adults With Occipital Horn Syndrome: Double-blind Placebo-controlled Randomized Crossover Clinical Trial	Recruiting	NCT04977388	Phase 1, Phase 2	Droxidopa
10	Oxytocin Treatment for Chronic Pain in Hypermobile Ehlers-Danlos Syndrome	Enrolling by invitation	NCT05405257	Phase 1, Phase 2	Oxytocin
11	Compression Garments Effects on Postural Balance of Patients With Hypermobility Type of Ehlers-danlos Syndrome, a Prospective Study on 40 Patients	Unknown status	NCT03359135
12	Effectiveness of Wearing a Compression Garment (SED CICATREX® Model) for Patients With Hypermobility Type of Ehlers-Danlos Syndrome	Unknown status	NCT02144532
13	Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome	Unknown status	NCT03596437
14	Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome	Unknown status	NCT03575182
15	Validity of Somatosensori Remediation for Postural Control in the Treatment of Ehlers-Danlos Syndrome Hypermobility Type (hEDS)	Unknown status	NCT04020107
16	Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI	Unknown status	NCT01307527		Riboflavin
17	Origins and Impact of EDS in Connective Tissues and Skin	Unknown status	NCT02721797
18	Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome	Completed	NCT02712060
19	Effects of a Multidisciplinary Outpatient Rehabilitation Program on Physical Capacity and Quality of Life in Patients With Ehlers-Danlos Syndrome.	Completed	NCT04680793
20	Evaluation of an Education Program for Patients With Hypermobility Type Ehlers-Danlos Syndrome	Completed	NCT02817490
21	Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome	Completed	NCT02435745
22	Evaluation of a Cohort of Patients With Ehlers-Danlos Syndrome Treated With Orthopedic Surgery (SED-eval)	Completed	NCT05137379
23	Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome	Completed	NCT02165085
24	Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia ("POTS" -- Postural Orthostatic Tachycardia Syndrome)Later in Life -- a Retrospective Analysis	Completed	NCT01367977
25	Lung Volume Perception and Impact of a Cognitive Task on Ventilation in Healthy Subjects and Subjects With Hypermobile Ehlers-Danlos Syndrome.	Completed	NCT05000151
26	A Retrospective, Observational, Multicenter, Study to Collect Clinical Safety and Performance Data of POLYTHESE® Vascular Prostheses	Completed	NCT05516043
27	Integrative Medicine for Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos (EDS) Syndromes: A Mixed-methods Feasibility Study	Completed	NCT04734041
28	Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan	Completed	NCT02985710
29	Opioid-Free Intravenous Anesthesia for Patients With Joint Hypermobility Syndrome Undergoing Craneo-Cervical Fixation: A Case-series Study Focused on Anti-hyperalgesic Approach	Completed	NCT04437589
30	Establishment of Local Arterial Stiffness Normal Values (Carotid and Femoral) on Healthy Volunteers Using Supersonic Shear Imaging	Completed	NCT01096264
31	Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue	Completed	NCT00270686
32	Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders	Completed	NCT00001641
33	Standing Cognition and Co-morbidities of POTS Evaluation	Completed	NCT03602482
34	Vascular Fundus Changes in Patients With High Probability of CCSVI (Chronic Cerebrospinal Venous Insufficiency)	Completed	NCT01356134
35	IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos Patients	Completed	NCT01446783		mecasermin;Saline
36	National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions	Completed	NCT01322165
37	Impact Study on Cerecare Compression Garments in the Treatment of Ehlers-Danlos Syndromes	Completed	NCT03451188
38	Measuring Central Sensitization and Physical Activity in Adolescents With Hypermobility Spectrum Disorder or Hypermobile Ehlers-Danlos Syndrome	Recruiting	NCT05633225
39	Investigation of Light Exposure on Pain Severity and Quality of Life in Individuals With Hypermobile Ehlers-Danlos Syndrome: A Pilot Study	Recruiting	NCT05561270
40	Registry of Ehlers-Danlos Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample	Recruiting	NCT04133272
41	Comprehensive Assessment of Nutrition & Dietary Intervention in Hypermobile Ehlers Danlos Syndrome (hEDS/HSD): a Personalised Approach: Phase 2 & 3	Recruiting	NCT05148039
42	Hypermobile Ehlers-Danlos Syndrome: Efficacy of Non-invasive Vagal Nerve Stimulation and Effects on Brain-Gut Physiology	Recruiting	NCT05212129
43	Evaluation of the Effect of Custom Compression Garments on Standing Static Balance in Ehlers Danlos Syndrome	Recruiting	NCT03986229
44	Evaluation and Management of Dyspnea in Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD)	Recruiting	NCT04972565
45	Retuning the Nervous System in Youth With Chronic Pain	Recruiting	NCT03686748	Early Phase 1
46	Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices	Recruiting	NCT02050113
47	Autonomic Neuropathy and Its Pathophysiology in Autoimmune Autonomic Neuropathies, Postural Orthostatic Tachycardia Syndrome and Ehlers Danlos Syndromes: Peripheral Autonomic Small Fiber Neuropathy or Central Autonomic Failure?	Recruiting	NCT04310644
48	Pathogenetic Basis of Aortopathy and Aortic Valve Disease	Recruiting	NCT03440697
49	Face Study of the Effects of Needling Using the Straberi Epistamp for the Improvement of Fine Lines and Skin Laxity.	Recruiting	NCT04742803
50	Determine the Causative Genetic Variations in Patients With Ehlers-Danlos Syndrome	Active, not recruiting	NCT03093493

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 ²⁸

Sources

Anatomical Context for Ehlers-Danlos Syndrome

Organs/tissues related to Ehlers-Danlos Syndrome:

MalaCards : Skin, Uterus, Lung, Eye, Bone, Heart, Brain

Sources

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

(show top 50) (show all 3888)

#	Title	Authors	PMID	Year
1	Resource utilization and multidisciplinary care needs for patients with Ehlers-Danlos syndrome. ⁶² ⁴¹	Jones JT...Callen E	36151850	2022
2	Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers-Danlos Syndrome. ⁶² ⁴¹	Isobe F...Takahashi J	36360214	2022
3	The Internet Knows More Than My Physician: Qualitative Interview Study of People With Rare Diseases and How They Use Online Support Groups. ⁶² ⁴¹	Ashtari S...Taylor AD	36006679	2022
4	Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. ⁵	Bae JS...Cho TJ	26402641	2016
5	A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. ⁵³ ⁶²	Kosho T...Matsumoto N	20503305	2010
6	Tenascin-X increases the stiffness of collagen gels without affecting fibrillogenesis. ⁵³ ⁶²	Margaron Y...Lethias C	20089348	2010
7	Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. ⁵³ ⁶²	Plancke A...Khau Van Kien P	19455184	2009
8	Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). ⁵³ ⁶²	Morisaki H...Morisaki T	19639654	2009
9	Ehlers-Danlos type IV in pregnancy with a history of myocardial infarction. ⁵³ ⁶²	Ohkuchi A...Suzuki M	19751346	2009
10	Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections. ⁵³ ⁶²	Nakamura M...Aizawa T	19477391	2009
11	Determination of beta4-galactosyltransferase-7 activity using high-performance liquid chromatography-electrospray ionization tandem mass spectrometry. ⁵³ ⁶²	Kuhn J...Gotting C	19133250	2009
12	Crystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetries. ⁵³ ⁶²	Boudko SP...Schumacher MA	18805790	2008
13	Vascular type of Ehlers-Danlos syndrome. ⁵³ ⁶²	Watanabe A...Shimada T	19023163	2008
14	Pseudoaneurysm of the peroneal artery: presentation of Ehlers-Danlos syndrome type IV. ⁵³ ⁶²	Mandeville K...Renton S	18485758	2008
15	FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts. ⁵³ ⁶²	Zoppi N...Colombi M	18405669	2008
16	Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice. ⁵³ ⁶²	Egging DF...Schalkwijk J	18335242	2008
17	Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome. ⁵³ ⁶²	Gotte M...Kiesel L	18158310	2008
18	Natural variation in four human collagen genes across an ethnically diverse population. ⁵³ ⁶²	Chan TF...Kwok PY	18272325	2008
19	Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. ⁵³ ⁶²	Mataix J...Climent JM	18284404	2008
20	A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections. ⁵³ ⁶²	Lee ST...Ki CS	18389341	2008
21	Novel localization of tenascin-X in adult mouse leptomeninges and choroid plexus. ⁵³ ⁶²	Imura K...Sato I	18595676	2008
22	Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. ⁵³ ⁶²	Voermans NC...van Engelen BG	17702048	2007
23	The glycosaminoglycan chain of decorin plays an important role in collagen fibril formation at the early stages of fibrillogenesis. ⁵³ ⁶²	Ruhland C...Seidler DG	17651433	2007
24	Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome. ⁵³ ⁶²	Blaker H...Autschbach F	17487505	2007
25	Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. ⁵³ ⁶²	Cabral WA...Marini JC	17206620	2007
26	Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. ⁵³ ⁶²	Malfait F...De Paepe A	17211858	2007
27	Interactions of human tenascin-X domains with dermal extracellular matrix molecules. ⁵³ ⁶²	Egging D...Schalkwijk J	17033827	2007
28	Wound healing in tenascin-X deficient mice suggests that tenascin-X is involved in matrix maturation rather than matrix deposition. ⁵³ ⁶²	Egging D...Peeters A	17453911	2007
29	A model of tenascin-X integration within the collagenous network. ⁵³ ⁶²	Lethias C...Exposito JY	17078949	2006
30	A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations. ⁵³ ⁶²	Demirogullari B...Kale N	16863833	2006
31	Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. ⁵³ ⁶²	Malfait F...De Paepe A	16816023	2006
32	Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). ⁵³ ⁶²	Seidler DG...Gotte M	16583246	2006
33	Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. ⁵³ ⁶²	Wenstrup RJ...Birk DE	16492673	2006
34	Abdominal aortic aneurysm is associated with high serum levels of tenascin-X and decreased aneurysmal tissue tenascin-X. ⁵³ ⁶²	Zweers MC...Schalkwijk J	16567571	2006
35	Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. ⁵³ ⁶²	Makareeva E...Leikin S	16407265	2006
36	Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. ⁵³ ⁶²	Gomez-Garre P...Serratosa JM	15994863	2006
37	Dermal connective tissue development in mice: an essential role for tenascin-X. ⁵³ ⁶²	Egging DF...Schalkwijk J	16331473	2006
38	Structural abnormalities of the cornea and lid resulting from collagen V mutations. ⁵³ ⁶²	Segev F...Birk DE	16431952	2006
39	Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome. ⁵³ ⁶²	Yassin OM...Rihani FB	16937863	2006
40	Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. ⁵³ ⁶²	Bristow J...Schalkwijk J	16278880	2005
41	Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). ⁵³ ⁶²	Giunta C...Steinmann B	15979919	2005
42	Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. ⁵³ ⁶²	Lindor NM...Bristow J	15793839	2005
43	Caffey disease: an unlikely collagenopathy. ⁵³ ⁶²	Glorieux FH	15864344	2005
44	Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). ⁵³ ⁶²	Giunta C...Steinmann B	15666309	2005
45	Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene. ⁵³ ⁶²	Gotte M...Kresse H	15859521	2005
46	Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components. ⁵³ ⁶²	Zweers MC...Lamme EN	15558324	2005
47	Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. ⁵³ ⁶²	Sheen VL...Walsh CA	15668422	2005
48	The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). ⁵³ ⁶²	Malfait F...De Paepe A	15389701	2004
49	Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. ⁵³ ⁶²	Colige A...Nusgens BV	15373769	2004
50	Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. ⁵³ ⁶²	Persikov AV...Brodsky B	15365990	2004

Sources

Genes for Ehlers-Danlos Syndrome

Genes related to Ehlers-Danlos Syndrome (9 elite genes):

(show top 50) (show all 107)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	488.89	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (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	485.58	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	15979919 8449506 9724729 (more) 8981946 15666309 20503305 7713497 9502428
3	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	476	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	9499606 8950675 9042913 (more) 16431952 10602121 11992482 15095409 8673139 8923000 10777716 14970208
4	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	473.31	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	26402641 1990839 15077201 (more) 10982177 8071956 1556139 16816023 10073586 9295084 18272325 1905723 17211858
5	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	447.87	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	1990839 1867198 16816023 (more) 18272325 1905723 17211858 9295084 10982177
6	SMAD3	SMAD Family Member 3	Protein Coding	431.44	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
7	LOC101448202	Uncharacterized LOC101448202	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵
8	TGFB2	Transforming Growth Factor Beta 2	Protein Coding	406.39	Pathogenic ⁵ DISEASES inferred ¹⁴
9	PRDM5	PR/SET Domain 5	Protein Coding	406.38	Pathogenic ⁵ DISEASES inferred ¹⁴
10	TNXB	Tenascin XB	Protein Coding	74.95	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	11642233 11925569 16278880 (more) 15366699 15793839 16567571 12354783 18595676 15102077 17033827 17702048 17078949 15558324 16331473 12845616 9288108 17453911 12376099 18335242 20089348
11	C1R	Complement C1r	Protein Coding	59.8	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
12	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	49.56	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	16431952
13	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	48.83	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	18158310 12417421 16583246 (more) 19133250 15859521 15211654
14	ADAMTS2	ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2	Protein Coding	48.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	10417273 15373769 11408482 (more) 15389701 11741898 12646579
15	LOC106780803	Tenascin XB Recombination Region	Functional Element	43.8	Likely pathogenic ⁵ GeneCards inferred via : Publications Summaries (show sections)
16	ZNF469	Zinc Finger Protein 469	Protein Coding	40.92	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
17	SLC39A13	Solute Carrier Family 39 Member 13	Protein Coding	37.54	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
18	FKBP14	FKBP Prolyl Isomerase 14	Protein Coding	36.81	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
19	DSE	Dermatan Sulfate Epimerase	Protein Coding	35.58	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
20	PLOD3	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 3	Protein Coding	33.36	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	9724729
21	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	31.98	Likely pathogenic ⁵ DISEASES inferred ¹⁴
22	FBN2	Fibrillin 2	Protein Coding	31.57	Likely pathogenic ⁵ DISEASES inferred ¹⁴
23	CHST14	Carbohydrate Sulfotransferase 14	Protein Coding	27.21	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
24	B3GALT6	Beta-1,3-Galactosyltransferase 6	Protein Coding	25.99	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
25	PLOD2	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2	Protein Coding	24.66	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
26	AEBP1	AE Binding Protein 1	Protein Coding	24.52	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
27	C1S	Complement C1s	Protein Coding	24.25	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
28	COL5A3	Collagen Type V Alpha 3 Chain	Protein Coding	23.86	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
29	FLNA	Filamin A	Protein Coding	23.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15668422 15994863
30	ELN	Elastin	Protein Coding	22.63	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16278880 8575260
31	DCN	Decorin	Protein Coding	22.01	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11532373 16583246 15859521 (more) 17651433
32	CD36	CD36 Molecule	Protein Coding	20.51	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16816023 10739762 18272325 (more) 15077201 15864344 2343586 8816205 16492673 16407265 9295084 2286029 17206620 15365990 17211858 18284404
33	FN1	Fibronectin 1	Protein Coding	20.45	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10651716 18405669 15054833 (more) 8186768 10452818
34	LOC106780804	Tenascin XA (Pseudogene) Recombination Region	Functional Element	18.8	GeneCards inferred via : Publications Summaries (show sections)
35	FBN1	Fibrillin 1	Protein Coding	15.85	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9746866 19639654
36	CYP21A2	Cytochrome P450 Family 21 Subfamily A Member 2	Protein Coding	14.77	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
37	LOX	Lysyl Oxidase	Protein Coding	14.72	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
38	COL12A1	Collagen Type XII Alpha 1 Chain	Protein Coding	14.52	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
39	ADAMTSL2	ADAMTS Like 2	Protein Coding	14.11	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
40	P3H4	Prolyl 3-Hydroxylase Family Member 4 (Inactive)	Protein Coding	14.09	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
41	SLC39A14	Solute Carrier Family 39 Member 14	Protein Coding	13.82	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
42	COL6A1	Collagen Type VI Alpha 1 Chain	Protein Coding	13.77	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
43	TNR	Tenascin R	Protein Coding	13.46	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
44	TNC	Tenascin C	Protein Coding	13.41	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
45	THBS2	Thrombospondin 2	Protein Coding	12.75	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
46	LZTS1	Leucine Zipper Tumor Suppressor 1	Protein Coding	12.6	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
47	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	12.52	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18272325
48	ILK	Integrin Linked Kinase	Protein Coding	12.17	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
49	TTN	Titin	Protein Coding	11.91	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
50	ELANE	Elastase, Neutrophil Expressed	Protein Coding	11.64	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	8547032 16364234 19245473

Sources

Variations for Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Ehlers-Danlos Syndrome:

⁵ (show top 50) (show all 1190)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	PRDM5	NM_018699.4(PRDM5):c.974del (p.Cys325fs)	DEL	Pathogenic	31114	rs766853150	GRCh37: 4:121720872-121720872 GRCh38: 4:120799717-120799717
2	COL3A1	NM_000090.4(COL3A1):c.2044G>A (p.Glu682Lys)	SNV	Pathogenic	1072145		GRCh37: 2:189864032-189864032 GRCh38: 2:188999306-188999306
3	COL5A1	NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter)	SNV	Pathogenic	17191	rs121912933	GRCh37: 9:137666747-137666747 GRCh38: 9:134774901-134774901
4	COL1A2	NM_000089.4(COL1A2):c.279+1G>A	SNV	Pathogenic	17251	rs67398234	GRCh37: 7:94030933-94030933 GRCh38: 7:94401621-94401621
5	PLOD1	NM_000302.4(PLOD1):c.1362del (p.Tyr455fs)	DEL	Pathogenic	1702256		GRCh37: 1:12024734-12024734 GRCh38: 1:11964677-11964677
6	TGFB2	NM_003238.6(TGFB2):c.1041del (p.Gly348fs)	DEL	Pathogenic	1702284		GRCh37: 1:218610793-218610793 GRCh38: 1:218437451-218437451
7	COL1A1	NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser)	SNV	Pathogenic	265433	rs67507747	GRCh37: 17:48271393-48271393 GRCh38: 17:50194032-50194032
8	COL5A1, LOC101448202	NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs)	DUP	Pathogenic	430502	rs1131691996	GRCh37: 9:137715308-137715309 GRCh38: 9:134823462-134823463
9	COL1A1	NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)	SNV	Pathogenic	17343	rs72645347	GRCh37: 17:48273698-48273698 GRCh38: 17:50196337-50196337
10	COL1A2	NM_000089.4(COL1A2):c.226-2A>G	SNV	Pathogenic	17270	rs72656355	GRCh37: 7:94030877-94030877 GRCh38: 7:94401565-94401565
11	SMAD3	NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp)	SNV	Pathogenic	30306	rs387906850	GRCh37: 15:67473779-67473779 GRCh38: 15:67181441-67181441
12	PLOD1	NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)	SNV	Pathogenic	14370	rs121913552	GRCh37: 1:12025599-12025599 GRCh38: 1:11965542-11965542
13	COL5A1	NM_000093.5(COL5A1):c.2034+1G>A	SNV	Pathogenic	281486	rs886042173	GRCh37: 9:137655584-137655584 GRCh38: 9:134763738-134763738
14	COL5A1	NM_000093.5(COL5A1):c.2952+2_2952+3del	MICROSAT	Pathogenic	662439	rs1588562135	GRCh37: 9:137690307-137690308 GRCh38: 9:134798461-134798462
15	COL1A2	NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)	SNV	Likely Pathogenic	848804	rs1792298693	GRCh37: 7:94056590-94056590 GRCh38: 7:94427278-94427278
16	ZNF469	NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)	SNV	Likely Pathogenic	387713	rs1004428835	GRCh37: 16:88493897-88493897 GRCh38: 16:88427489-88427489
17	TNXB	NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs)	DUP	Likely Pathogenic	1702327		GRCh37: 6:32049244-32049245 GRCh38: 6:32081467-32081468
18	COL5A1, LOC101448202	NM_000093.4(COL5A1):c.4646dupG	DUP	Likely Pathogenic	1702218		GRCh37: 9:137715260-137715261 GRCh38: 9:134823414-134823415
19	COL5A1	NM_000093.5(COL5A1):c.655-2A>T	SNV	Likely Pathogenic	1702222		GRCh37: 9:137619110-137619110 GRCh38: 9:134727264-134727264
20	ZNF469	NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)	DEL	Likely Pathogenic	872522	rs756543273	GRCh37: 16:88504202-88504202 GRCh38: 16:88437794-88437794
21	PLOD1	NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter)	SNV	Likely Pathogenic	659390	rs1439043436	GRCh37: 1:12032932-12032932 GRCh38: 1:11972875-11972875
22	COL3A1	NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys)	SNV	Likely Pathogenic	529313	rs1553507432	GRCh37: 2:189854852-189854852 GRCh38: 2:188990126-188990126
23	TNXB	NM_001365276.2(TNXB):c.4957C>T (p.Arg1653Ter)	SNV	Likely Pathogenic	450861	rs201184519	GRCh37: 6:32039800-32039800 GRCh38: 6:32072023-32072023
24	TNXB	NM_001365276.2(TNXB):c.9511G>T (p.Glu3171Ter)	SNV	Likely Pathogenic	1702361		GRCh37: 6:32017293-32017293 GRCh38: 6:32049516-32049516
25	TNXB	NM_001365276.2(TNXB):c.9668dup (p.Leu3224fs)	DUP	Likely Pathogenic	1702363		GRCh37: 6:32017135-32017136 GRCh38: 6:32049358-32049359
26	SMAD3	NM_005902.4(SMAD3):c.594del (p.His198fs)	DEL	Likely Pathogenic	1702283		GRCh37: 15:67459178-67459178 GRCh38: 15:67166840-67166840
27	TNXB	NM_001365276.2(TNXB):c.9497A>T (p.Glu3166Val)	SNV	Likely Pathogenic	1702359		GRCh37: 6:32017307-32017307 GRCh38: 6:32049530-32049530
28	TNXB	NM_001365276.2(TNXB):c.9498_9499del (p.Glu3166fs)	DEL	Likely Pathogenic	1702360		GRCh37: 6:32017305-32017306 GRCh38: 6:32049528-32049529
29	TGFBR2	NM_003242.6(TGFBR2):c.1582C>G (p.Arg528Gly)	SNV	Likely Pathogenic	1702293		GRCh37: 3:30732969-30732969 GRCh38: 3:30691477-30691477
30	TGFBR2	NM_003242.6(TGFBR2):c.363C>A (p.Cys121Ter)	SNV	Likely Pathogenic	1702294		GRCh37: 3:30691861-30691861 GRCh38: 3:30650369-30650369
31	LOC106780803, TNXB	NM_001365276.2(TNXB):c.10623_10624del (p.Pro3542fs)	MICROSAT	Likely Pathogenic	1702298		GRCh37: 6:32013086-32013087 GRCh38: 6:32045309-32045310
32	TNXB	NM_001365276.2(TNXB):c.8247del (p.Asp2750fs)	DEL	Likely Pathogenic	1702352		GRCh37: 6:32023848-32023848 GRCh38: 6:32056071-32056071
33	COL3A1	NM_000090.4(COL3A1):c.1322del (p.Gly441fs)	DEL	Likely Pathogenic	973734	rs1688259777	GRCh37: 2:189859294-189859294 GRCh38: 2:188994568-188994568
34	COL1A2	NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser)	SNV	Likely Pathogenic	1702191		GRCh37: 7:94054492-94054492 GRCh38: 7:94425180-94425180
35	COL3A1	NM_000090.4(COL3A1):c.2122G>A (p.Gly708Ser)	SNV	Likely Pathogenic	1702196		GRCh37: 2:189864196-189864196 GRCh38: 2:188999470-188999470
36	COL3A1	NM_000090.4(COL3A1):c.2815G>C (p.Gly939Arg)	SNV	Likely Pathogenic	1702197		GRCh37: 2:189868861-189868861 GRCh38: 2:189004135-189004135
37	COL3A1	NM_000090.4(COL3A1):c.971G>T (p.Gly324Val)	SNV	Likely Pathogenic	1702202		GRCh37: 2:189856929-189856929 GRCh38: 2:188992203-188992203
38	COL5A1, LOC101448202	NM_000093.5(COL5A1):c.5031del (p.Ser1678fs)	DEL	Likely Pathogenic	1702219		GRCh37: 9:137717709-137717709 GRCh38: 9:134825863-134825863
39	COL5A1	NM_000093.5(COL5A1):c.3259G>T (p.Gly1087Ter)	SNV	Likely Pathogenic	1702209		GRCh37: 9:137698035-137698035 GRCh38: 9:134806189-134806189
40	COL5A1	NM_000093.5(COL5A1):c.3809_3810dup (p.Pro1271fs)	DUP	Likely Pathogenic	1702212		GRCh37: 9:137704514-137704515 GRCh38: 9:134812668-134812669
41	COL5A1	NM_000093.5(COL5A1):c.4014+1G>A	SNV	Likely Pathogenic	1702213		GRCh37: 9:137706751-137706751 GRCh38: 9:134814905-134814905
42	FBN2	NM_001999.4(FBN2):c.1723+1G>T	SNV	Likely Pathogenic	1702240		GRCh37: 5:127714463-127714463 GRCh38: 5:128378770-128378770
43	PLOD1	NM_000302.4(PLOD1):c.979dup (p.Gln327fs)	DUP	Likely Pathogenic	1702263		GRCh37: 1:12020705-12020706 GRCh38: 1:11960648-11960649
44	COL1A2	NM_000089.4(COL1A2):c.1404+1G>A	SNV	Likely Pathogenic	17275	rs67162110	GRCh37: 7:94041434-94041434 GRCh38: 7:94412122-94412122
45	C1R	NM_001733.7(C1R):c.265T>C (p.Cys89Arg)	SNV	Likely Pathogenic	972707	rs1938242419	GRCh37: 12:7242811-7242811 GRCh38: 12:7090215-7090215
46	COL1A2	NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)	SNV	Likely Pathogenic	1343353		GRCh37: 7:94054456-94054456 GRCh38: 7:94425144-94425144
47	COL1A2	NM_000089.4(COL1A2):c.486+2T>G	SNV	Likely Pathogenic	1701998		GRCh37: 7:94034566-94034566 GRCh38: 7:94405254-94405254
48	COL3A1	NM_000090.4(COL3A1):c.582+1G>C	SNV	Likely Pathogenic	101206	rs587779508	GRCh37: 2:189852861-189852861 GRCh38: 2:188988135-188988135
49	COL3A1	NM_000090.4(COL3A1):c.2113G>A (p.Gly705Arg)	SNV	Likely Pathogenic	101346	rs587779623	GRCh37: 2:189864101-189864101 GRCh38: 2:188999375-188999375
50	ZNF469	NM_001367624.2(ZNF469):c.8806G>T (p.Glu2936Ter)	SNV	Likely Pathogenic	1702158		GRCh37: 16:88502684-88502684 GRCh38: 16:88436276-88436276

Copy number variations for Ehlers-Danlos Syndrome from CNVD:

⁶

#	CNVD ID	Chromosome	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 directly related to Ehlers-Danlos Syndrome:

#	Pathway	Source
1	Defective B3GALT6 causes EDSP2 and SEMDJL1	Reactome ⁶⁶
2	Defective B4GALT7 causes EDS, progeroid type	Reactome ⁶⁶
3	Defective CHST14 causes EDS, musculocontractural type	Reactome ⁶⁶

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

(show all 28)

#	Super pathways	Score	Top Affiliating Genes
1	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.96	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TGFB2
2	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	12.84	TNXB COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
3	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.72	COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
4	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 degradation ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴	12.68	PLOD3 PLOD1 COL5A2 COL5A1 COL3A1 COL1A2
5	MET promotes cell motility ⁶⁶ Show member pathways Beta1 integrin cell surface interactions ⁶¹ MET activates PTK2 signaling ⁶⁶ MET activates RAP1 and RAC1 ⁶⁶ MET activates RAS signaling ⁶⁶ MET interacts with TNS proteins ⁶⁶ MET Receptor Activation ⁶⁶ MET receptor recycling ⁶⁶ Signaling by MET ⁶⁶	12.31	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6	Focal adhesion ⁷⁴	12.17	TNXB COL5A2 COL1A2 COL1A1
7	Non-integrin membrane-ECM interactions ⁶⁶ Show member pathways Alpha6 beta4 integrin-ligand interactions ⁶¹ Cell adhesion Endothelial cell contacts by non-junctional mechanisms ²² Laminin interactions ⁶⁶ Syndecan interactions ⁶⁶	12.08	COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
8	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	11.97	TNXB TGFB2 PLOD3 PLOD1 COL5A2 COL5A1
9	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	11.94	COL3A1 COL1A2 COL1A1
10	Senescence and autophagy in cancer ⁷⁴	11.83	SMAD3 COL3A1 COL1A1
11	NCAM signaling for neurite out-growth ⁶⁶ Show member pathways NCAM1 interactions ⁶⁶	11.82	COL5A2 COL5A1 COL3A1
12	CCL18 signaling pathway ⁷⁴	11.78	SMAD3 COL1A2 COL1A1
13	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	11.74	COL3A1 COL1A2 COL1A1
14	Signaling by PDGF ⁶⁶ Show member pathways Downstream signal transduction ⁶⁶	11.72	COL5A2 COL5A1 COL3A1
15	ECM proteoglycans ⁶⁶ Show member pathways Integrin cell surface interactions ⁶⁶ MED and pseudoachondroplasia genes ⁷⁴	11.72	TNXB TGFB2 COL5A2 COL5A1 COL3A1 COL1A2
16	Burn wound healing ⁷⁴	11.65	TGFB2 SMAD3 COL1A2 COL1A1
17	Cell adhesion_ECM remodeling ²²	11.55	COL3A1 COL1A2 COL1A1
18	Integrins in angiogenesis ⁶¹	11.48	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
19	NRP1-triggered signaling pathways in pancreatic cancer ⁷⁴	11.46	TGFB2 SMAD3 COL1A2 COL1A1
20	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.45	COL3A1 COL1A2 COL1A1
21	Inflammatory response pathway ⁷⁴	11.24	COL3A1 COL1A2 COL1A1
22	miRNA targets in ECM and membrane receptors ⁷⁴	11.23	TNXB COL5A2 COL5A1 COL3A1 COL1A2
23	Type I collagen synthesis in the context of osteogenesis imperfecta ⁷⁴	11.22	PLOD1 COL1A2 COL1A1 ADAMTS2
24	Angiotensin II receptor type 1 pathway ⁷⁴	11.15	SMAD3 COL1A2 COL1A1
25	Syndecan-1-mediated signaling events ⁶¹	11.03	COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
26	VEGFR3 signaling in lymphatic endothelium ⁶¹	11.02	COL1A2 COL1A1
27	G-protein signaling_Rap2B regulation pathway ²²	10.92	TGFB2 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
28	miR-509-3p alteration of YAP1/ECM axis ⁷⁴	10.9	COL5A1 COL3A1 COL1A1

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	endoplasmic reticulum lumen	GO:0005788	10.1	PLOD3 FKBP14 COL5A2 COL5A1 COL3A1 COL1A2
2	extracellular matrix	GO:0031012	9.8	ADAMTS2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
3	collagen type XI trimer	GO:0005592	9.71	COL5A2 COL5A1
4	collagen type V trimer	GO:0005588	9.67	COL5A2 COL5A1
5	collagen type I trimer	GO:0005584	9.62	COL1A2 COL1A1
6	collagen-containing extracellular matrix	GO:0062023	9.58	TNXB TGFB2 PLOD3 COL5A2 COL5A1 COL3A1
7	collagen trimer	GO:0005581	9.55	COL5A2 COL5A1 COL3A1 COL1A2 COL1A1

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	transforming growth factor beta receptor signaling pathway	GO:0007179	10.11	COL1A2 COL3A1 SMAD3 TGFB2
2	wound healing	GO:0042060	10.1	TGFB2 SMAD3 COL3A1 COL1A1
3	skeletal system development	GO:0001501	10.09	TGFB2 SMAD3 COL5A2 COL1A2 COL1A1
4	cellular response to amino acid stimulus	GO:0071230	10.06	COL5A2 COL3A1 COL1A2 COL1A1
5	blood vessel development	GO:0001568	9.91	COL5A1 COL3A1 COL1A2 COL1A1
6	elastic fiber assembly	GO:0048251	9.88	TNXB COL3A1
7	supramolecular fiber organization	GO:0097435	9.88	B4GALT7 COL3A1 COL5A1
8	collagen biosynthetic process	GO:0032964	9.87	COL5A1 COL1A1
9	peptidyl-lysine hydroxylation	GO:0017185	9.86	PLOD3 PLOD1
10	regulation of extracellular matrix organization	GO:1903053	9.85	ZNF469 PRDM5
11	skin development	GO:0043588	9.85	ADAMTS2 COL1A1 COL3A1 COL5A1 COL5A2
12	eye morphogenesis	GO:0048592	9.84	COL5A2 COL5A1
13	regulation of transforming growth factor beta2 production	GO:0032909	9.83	TGFB2 SMAD3
14	collagen metabolic process	GO:0032963	9.8	TNXB PLOD3 COL1A2
15	positive regulation of epithelial to mesenchymal transition	GO:0010718	9.8	TNXB TGFB2 SMAD3 COL1A1
16	extracellular matrix organization	GO:0030198	9.8	TNXB COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
17	negative regulation of endodermal cell differentiation	GO:1903225	9.78	COL5A2 COL5A1
18	anatomical structure development	GO:0048856	9.76	COL5A2 COL3A1 COL1A1
19	collagen fibril organization	GO:0030199	9.58	TNXB TGFB2 PLOD3 COL5A2 COL5A1 COL3A1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	metal ion binding	GO:0046872	10.43	ZNF469 SMAD3 PRDM5 PLOD3 PLOD1 FKBP14
2	extracellular matrix structural constituent	GO:0005201	9.93	TNXB COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
3	SMAD binding	GO:0046332	9.8	COL1A2 COL3A1 COL5A2 SMAD3
4	procollagen-lysine 5-dioxygenase activity	GO:0008475	9.71	PLOD3 PLOD1
5	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.65	COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
6	procollagen glucosyltransferase activity	GO:0033823	9.5	PLOD3 PLOD1
7	platelet-derived growth factor binding	GO:0048407	9.23	COL5A1 COL3A1 COL1A2 COL1A1