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EDSVASC
MCID: EHL052
MIFTS: 63

Ehlers-Danlos Syndrome, Vascular Type (EDSVASC)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Ehlers-Danlos Syndrome, Vascular Type

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MalaCards integrated aliases for Ehlers-Danlos Syndrome, Vascular Type:

Name: Ehlers-Danlos Syndrome, Vascular Type 57 25 20 72
Eds Iv 57 20 58 72 54
Vascular Ehlers-Danlos Syndrome 25 20 58
Sack-Barabas Syndrome 20 58 72
Veds 25 20 58
Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant 57 72
Vascular Type Ehlers-Danlos Syndrome 12 15
Ehlers-Danlos Syndrome, Type Iv 13 70
Ehlers-Danlos Syndrome, Type 4 29 6
Ehlers-Danlos Syndrome Type 4 20 58
Arterial-Ecchymotic Eds 20 58
Vascular Eds 20 58
Edsvasc 57 72
Eds4 57 72
Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant; Eds4 57
Autosomal Dominant Type Iv Ehlers-Danlos Syndrome 12
Ehlers-Danlos Syndrome, Sack-Barabas Type 57
Ehlers Danlos Syndrome, Sack-Barabas Type 20
Ehlers-Danlos Syndrome, Ecchymotic Type 57
Ehlers Danlos Syndrome, Ecchymotic Type 20
Ehlers-Danlos Syndrome Ecchymotic Type 72
Ehlers-Danlos Syndrome, Type 4 Variant 29
Syndrome, Ehlers-Danlos, Vascular Type 39
Ehlers-Danlos Syndrome, Arterial Type 57
Ehlers Danlos Syndrome, Arterial Type 20
Ehlers-Danlos Syndrome Arterial Type 72
Ehlers-Danlos Syndrome Vascular Type 36
Ehlers-Danlos Syndrome Type Iv 20
Ehlers-Danlos Syndrome 4 72
Eds Type Iv 25
Eds Type 4 20

Characteristics:

Orphanet epidemiological data:

58
vascular ehlers-danlos syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
death usually occurs before 5th decade
autosomal recessive inheritance has been reported in 1 family (as of april 2011)


HPO:

31
ehlers-danlos syndrome, vascular type:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance In families identified on the basis of clinical complications, penetrance of the veds phenotype appears to be close to 100% in adults with a missense or exon-skipping alteration; the age at which the pathogenic variant becomes penetrant may vary. col3a1 null variants have significantly reduced penetrance manifested by the absence of minor diagnostic criteria in 51% of individuals with veds identified with a pathogenic null alteration [leistritz et al 2011].

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Ehlers-Danlos Syndrome, Vascular Type

About this section
GARD : 20 Vascular Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. Vascular EDS is usually caused by a change ( mutation ) in the COL3A1 gene. Rarely, it may be caused by a mutation in the COL1A1 gene. Inheritance is autosomal dominant. Treatment and management is focused on preventing serious complications and relieving signs and symptoms.

MalaCards based summary : Ehlers-Danlos Syndrome, Vascular Type, also known as eds iv, is related to hemopericardium and hypermobile ehlers-danlos syndrome, and has symptoms including hemoptysis An important gene associated with Ehlers-Danlos Syndrome, Vascular Type is COL3A1 (Collagen Type III Alpha 1 Chain), and among its related pathways/superpathways are Relaxin signaling pathway and ERK Signaling. The drugs Celiprolol and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related phenotypes are global developmental delay and hypertelorism

Disease Ontology : 12 An Ehlers-Danlos syndrome that has material basis in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits.

OMIM® : 57 The vascular type of Ehlers-Danlos syndrome is characterized by the major complications of arterial and bowel rupture, uterine rupture during pregnancy, and the clinical features of easy bruising, thin skin with visible veins, and characteristic facial features (summary by Leistritz et al., 2011). Joint hypermobility is largely limited to the digits, and skin hyperextensibility is minimal or absent (McKusick, 1972). (130050) (Updated 20-May-2021)

KEGG : 36 Ehlers-Danlos syndrome vascular type (EDSVASC) is an autosomal dominant life-threatening connective tissue disorder. EDSVASC causes severe fragility of connective tissues with arterial and gastrointestinal rupture. Patients typically harbor a heterozygous mutation in the COL3A1 gene, encoding type III collagen, with the rare exception of specific mutations in COL1A1.

UniProtKB/Swiss-Prot : 72 Ehlers-Danlos syndrome, vascular type: A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas.

GeneReviews: NBK1494
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Related Diseases for Ehlers-Danlos Syndrome, Vascular Type

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

(show top 50) (show all 179)
# Related Disease Score Top Affiliating Genes
1 hemopericardium 30.3 FBN1 ELN
2 hypermobile ehlers-danlos syndrome 30.2 FBN1 COL5A1
3 ehlers-danlos syndrome 30.2 FBN1 ELN COL5A1 COL3A1
4 tricuspid valve insufficiency 30.1 MYH11 FBN1
5 intracranial aneurysm 30.1 TGFB2 ELN COL3A1
6 familial thoracic aortic aneurysm and aortic dissection 30.0 TGFB2 MYH11 FBN1 ELN COL5A1 COL3A1
7 hypermobility syndrome 30.0 COL5A1 COL3A1
8 mitral valve insufficiency 30.0 MYH11 FBN1 ELN
9 aortic valve insufficiency 29.9 MYH11 FBN1 ELN ACTA2
10 pneumothorax 29.8 FBN1 ELN COL5A1
11 inguinal hernia 29.7 FBN1 ELN COL5A1
12 patent ductus arteriosus 1 29.6 MYH11 FBN1 ELN ACTA2
13 collagen disease 29.5 FBN1 ELN COL5A1 COL3A1
14 brittle bone disorder 29.4 FBN1 ELN COL5A1 COL3A1
15 aortic aneurysm 29.4 TGFB2 MYH11 FBN1 ELN COL3A1 ACTA2
16 loeys-dietz syndrome 1 29.4 TGFB2 MYH11 FBN1 ACTA2
17 aortic aneurysm, familial abdominal, 1 29.3 MYH11 FBN1 ELN COL3A1 ACTA2
18 scoliosis 29.2 TGFB2 FBN1 ELN COL5A1
19 arterial tortuosity syndrome 28.9 TGFB2 MYH11 FBN1 ELN COL3A1 ACTA2
20 aortic disease 28.9 TGFB2 MYH11 FBN1 ELN COL3A1 ACTA2
21 loeys-dietz syndrome 28.7 TGFB2 MYH11 FBN1 ELN COL5A1 COL3A1
22 connective tissue disease 28.7 TGFB2 MYH11 FBN1 ELN COL5A1 COL3A1
23 aneurysm 28.6 TGFB2 MYH11 FBN1 ELN COL3A1 ACTA2
24 marfan syndrome 28.4 TGFB2 MYH11 FBN1 ELN COL5A1 COL3A1
25 aortic dissection 28.3 TGFB2 MYH11 FBN1 ELN COL5A1 COL3A1
26 aortic aneurysm, familial thoracic 1 28.2 TGFB2 MYH11 FBN1 ELN COL5A1 COL3A1
27 orthostatic intolerance 28.2 TGFB2 MYH11 FBN1 ELN COL5A1 COL3A1
28 polymicrogyria with or without vascular-type ehlers-danlos syndrome 11.9
29 vascular disease 10.4
30 peritonitis 10.4
31 pneumothorax, primary spontaneous 10.3
32 carotid artery dissection 10.3
33 cerebral aneurysms 10.3
34 varicose veins 10.3
35 coronary artery dissection, spontaneous 10.2
36 cardiac arrest 10.2
37 pyelonephritis 10.2
38 clubfoot 10.2
39 constipation 10.2
40 late-onset focal dermal elastosis 10.2 FBN1 ELN
41 pseudoxanthoma elasticum-like papillary dermal elastolysis 10.2 FBN1 ELN
42 chronic actinic dermatitis 10.2 FBN1 ELN
43 mid-dermal elastolysis 10.2 FBN1 ELN
44 ureteric orifice cancer 10.2 FBN1 ELN
45 acroosteolysis 10.1
46 gastroesophageal reflux 10.1
47 cardiac conduction defect 10.1
48 ehlers-danlos syndrome, periodontal type, 1 10.1
49 cystic fibrosis 10.1
50 hydrocephalus, congenital, 1 10.1

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



Diseases related to Ehlers-Danlos Syndrome, Vascular Type
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Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Vascular Type

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Human phenotypes related to Ehlers-Danlos Syndrome, Vascular Type:

58 31 (show top 50) (show all 129)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
6 hypokalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002900
7 cryptorchidism 58 31 very rare (1%) Very frequent (99-80%) HP:0000028
8 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
9 pectus excavatum 58 31 very rare (1%) Very frequent (99-80%) HP:0000767
10 melanocytic nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000995
11 aortic dissection 58 31 hallmark (90%) Very frequent (99-80%) HP:0002647
12 sprengel anomaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000912
13 mitral valve prolapse 58 31 hallmark (90%) Very frequent (99-80%) HP:0001634
14 aplasia/hypoplasia of the earlobes 58 31 hallmark (90%) Very frequent (99-80%) HP:0009906
15 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
16 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
17 bladder diverticulum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000015
18 macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0012733
19 bruising susceptibility 58 31 very rare (1%) Very frequent (99-80%) HP:0000978
20 internal hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0011029
21 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
22 gastrointestinal infarctions 58 31 hallmark (90%) Very frequent (99-80%) HP:0005244
23 peripheral arteriovenous fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0100784
24 abnormal oral frenulum morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000190
25 pneumothorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0002107
26 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
27 dermal translucency 58 31 very rare (1%) Very frequent (99-80%) HP:0010648
28 abnormal eyelash morphology 31 hallmark (90%) HP:0000499
29 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
30 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
31 arterial dissection 58 31 frequent (33%) Frequent (79-30%) HP:0005294
32 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
33 telangiectasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0100585
34 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
35 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
36 varicose veins 58 31 frequent (33%) Frequent (79-30%) HP:0002619
37 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
38 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
39 arteriovenous fistulas of celiac and mesenteric vessels 58 31 frequent (33%) Frequent (79-30%) HP:0002642
40 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
41 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
42 inguinal hernia 58 31 very rare (1%) Occasional (29-5%) HP:0000023
43 gingival overgrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000212
44 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
45 reduced consciousness/confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0004372
46 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
47 aplasia/hypoplasia of the abdominal wall musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0010318
48 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
49 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
50 congenital hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001374

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen External Features:
inguinal hernia

Cardiovascular Heart:
mitral valve prolapse

Head And Neck Eyes:
keratoconus

Skin Nails Hair Skin:
cigarette-paper scars
fragile skin
molluscoid pseudotumors
easy bruisability
atrophic skin over ears
more
Prenatal Manifestations Delivery:
premature delivery because of cervical insufficiency or membrane fragility

Skeletal Feet:
acroosteolysis
clubfoot

Head And Neck Mouth:
thin lips
periodontal disease
early loss of teeth

Head And Neck Nose:
pinched, thin nose

Abdomen Gastrointestinal:
spontaneous rupture of bowel

Laboratory Abnormalities:
type iii collagen defect

Growth Height:
short stature

Respiratory Lung:
spontaneous pneumothorax
hemoptysis

Skin Nails Hair Hair:
alopecia of scalp

Genitourinary Internal Genitalia Female:
uterine prolapse
cervical insufficiency
uterine rupture associated with pregnancy

Skeletal Hands:
hypermobility of distal interphalangeal joints
acroosteolysis

Head And Neck Face:
thin lips

Head And Neck Ears:
lobeless ears

Cardiovascular Vascular:
intracranial aneurysm

Genitourinary Bladder:
bladder prolapse

Clinical features from OMIM®:

130050 (Updated 20-May-2021)

UMLS symptoms related to Ehlers-Danlos Syndrome, Vascular Type:


hemoptysis

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Vascular Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 ACTA2 COL3A1 FBN1 MYH11 TGFB2
Sources

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Vascular Type

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

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celiprolol Approved, Investigational Phase 4 56980-93-9
2
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
6
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 Anti-Arrhythmia Agents Phase 4
11 Adrenergic beta-Antagonists Phase 4
12 Vasodilator Agents Phase 4
13 Adrenergic Antagonists Phase 4
14 Adrenergic Agents Phase 4
15 Neurotransmitter Agents Phase 4
16 Adrenergic beta-1 Receptor Antagonists Phase 4
17 Antihypertensive Agents Phase 4
18 Sympathomimetics Phase 4
19 Anesthetics Phase 4
20 Anesthetics, Local Phase 4
21 Hormones Phase 4
22 Methylprednisolone Acetate Phase 4
23 Hormone Antagonists Phase 4
24 Antineoplastic Agents, Hormonal Phase 4
25 glucocorticoids Phase 4
26 Anti-Inflammatory Agents Phase 4
27
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
28
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198
29 Angiotensin II Type 1 Receptor Blockers Phase 3
30 Angiotensin Receptor Antagonists Phase 3
31 Giapreza Phase 3
32 Angiotensinogen Phase 3
33
Tocopherol Approved, Investigational Phase 2 1406-66-2
34
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
35 Tocotrienol Investigational Phase 2 6829-55-6
36 Micronutrients Phase 2
37 Trace Elements Phase 2
38 Nutrients Phase 2
39 Antioxidants Phase 2
40 Protective Agents Phase 2
41 Liver Extracts Phase 2
42 Vitamins Phase 2
43 Tocotrienols Phase 2
44 Tocopherols Phase 2
45
Cefuroxime Approved 55268-75-2 5361202 5479529
46
Epinephrine Approved, Vet_approved 51-43-4 5816
47
Racepinephrine Approved 329-65-7 838
48
Norepinephrine Approved 51-41-2 439260
49
Lysine Approved, Nutraceutical 56-87-1 5962
50 Anti-Bacterial Agents

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Intraartikulær Versus ekstraartikulær Bolus Injektion Med Ropivacain Ved Total knæalloplastik: et Prospektivt, Randomiseret, Dobbeltblindet, Kontrolleret Studie Unknown status NCT00632580 Phase 4 intraarticular injection with ropivacaine;extraarticular injection with ropivacaine
2 Prevention of Vascular Complications by BetaBlocker Treatment in Vascular Ehlers-Danlos Syndrome Completed NCT00190411 Phase 4 celiprolol;Control
3 Lokal Infiltrations Analgesi Med Ropivakain 1 % Versus Placebo VED Vaginale Descensusoperationer: ET Prospektivt Randomiseret, Dobbeltblindet, Placebo- Kontrolleret Studie Completed NCT00769054 Phase 4 Ropivacaine;Isotonic NaCl
4 Lokal Infiltrations Analgesi Med Ropivakain 0,5 % Versus Placebo Ved Rygkirurgi for Spinalstenose: et Prospektivt Randomiseret, Dobbeltblindet, Placebo-kontrolleret Studie Completed NCT00771459 Phase 4 Ropivacaine 0.5 %;Isotonic NaCl
5 Lokal Infiltrations Analgesi Med Ropivakain 0,5 % Versus Placebo VED Vaginal Hysterektomi: ET Prospektivt Randomiseret, Dobbeltblind ET, Placebo-kontrolleret Studie Completed NCT00768456 Phase 4 Ropivacaine 0.5 %;Isotonic NaCl
6 Prednisolon Behandling Ved Akut Interstitiel Nefritis - et Randomiseret, Prospektivt Studie Recruiting NCT04376216 Phase 4 Prednisone
7 Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome: a Double Blind, Randomized, Placebo Controlled, Multicenter Trial. Completed NCT02597361 Phase 3 Irbesartan;Placebo
8 Kan tumorvækst Forudsiges Ved RGD-PET/MR af Vestibularis Schwannomer? Unknown status NCT03393689 Phase 2 One injection of 68Ga-NODAGA-E[c(RGDyK)]2
9 Vitamin E Dosing Study (VEDS): A Dose Finding Study of Vitamin E for the Treatment of Adult NAFLD Not yet recruiting NCT04801849 Phase 2 d-alpha-tocopherol;Placebo
10 Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome Unknown status NCT03596437
11 Dual PET/CT Imaging in Lung Cancer (Danish Title: En og Tre Timers FDG-PET/CT Ved Lungecancer) Unknown status NCT01539928
12 Mikrobiologi Ved Para- og Retropharyngeal Absces Unknown status NCT02640456
13 Antibiotikaprofylakse Ved Vaginalplastik Unknown status NCT00162604 Cefuroxime
14 Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome Completed NCT02165085
15 Trimodalitets-studie Hvidt Lys vs. NBI vs. PDD Ved Detektion af Flad Dysplasi og CIS Ved TURB Completed NCT02313662
16 Analysis of Technique Comparison With a Vacuum Erection Device as Part of an Erectile Rehabilitation Program Following Robotic Radical Prostatectomy: A Randomized Comparison of Methodology Completed NCT01660152
17 Kan Anvendelse af Endoskopisk Positioneringsudstyr Ved coloskopiundersøgelsen (kikkertundersøgelse af Tarmen) i en højt Specialiseret Praksis Forbedre Patientens Subjektive Kvalitetsoplevelse (Smerteperception)? Completed NCT01055782
18 Near-infrared Spectroscopy in Endovascular Treatment (Danish: Nær-infrarød Spektroskopi Ved endovaskulær Trombektomi) Completed NCT03738644
19 Autonom Dysrefleksi Ved Rygmarvsskade Completed NCT01059370
20 Rebozo Som Vendingsmetode Ved sædepræsentation (in Danish) Completed NCT02331160
21 BEVAR: Patientspecifik Behandling Ved Artrose - Et "Proof-of-concept"- Kvalitetssikringsstudie Completed NCT02967744 NSAID
22 Rekonstruktion af Forreste korsbånd Hos +30-årige Vurderet Ved Patient Reported Outcome Measures(PRO) Completed NCT04592367
23 In Norwegian: Helseffekter av Stoff Som Avgis Ved Skyting Med HK416 Completed NCT01477645
24 Mikrobiologi Ved svær Akut Tonsillit, peritonsillær Phlegmone og infektiøs Mononukleose Not yet recruiting NCT02715037

Search NIH Clinical Center for Ehlers-Danlos Syndrome, Vascular Type

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Genetic Tests for Ehlers-Danlos Syndrome, Vascular Type

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Genetic tests related to Ehlers-Danlos Syndrome, Vascular Type:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 4 29 COL3A1
2 Ehlers-Danlos Syndrome, Type 4 Variant 29
Sources

Anatomical Context for Ehlers-Danlos Syndrome, Vascular Type

About this section

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Vascular Type:

40
Skin, Heart, Eye, Colon, Liver, Lung, Neutrophil
Sources

Publications for Ehlers-Danlos Syndrome, Vascular Type

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Articles related to Ehlers-Danlos Syndrome, Vascular Type:

(show top 50) (show all 205)
# Title Authors PMID Year
1
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism. 57 25 6 61
12786757 2003
2
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 25 57 6
24922459 2014
3
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. 6 57 25
21637106 2011
4
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. 57 6 54 61
12694234 2003
5
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. 57 25 6
11577371 2001
6
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 25 57 6
10706896 2000
7
Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV. 57 6 61
8680408 1995
8
EDS IV (acrogeria): new autosomal dominant and recessive types. 61 57 6
7230200 1980
9
Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives. 6 57
10051163 1999
10
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. 57 6
1496983 1992
11
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation. 57 6
1352273 1992
12
Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say. 6 57
1939638 1991
13
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. 57 6
2243125 1990
14
Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. 6 57
2349939 1990
15
Angiographic abnormalities mimicking fibromuscular dysplasia in a patient with Ehlers-Danlos syndrome, type IV. 6 57
2771024 1989
16
Spontaneous carotid cavernous fistula in Ehlers Danlos syndrome. 6 57
3204406 1988
17
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. 6 57
2834369 1988
18
Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree. 57 6
3162228 1988
19
Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child. 57 6
6477831 1984
20
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25 6
25758994 2015
21
Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family. 25 6
25205403 2015
22
Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome. 57 25
24922461 2014
23
Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study. 25 6
22492385 2012
24
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. 25 6
20648054 2010
25
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. 61 54 6
10923041 2000
26
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. 25 6
8881656 1996
27
Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. 54 61 6
1757960 1991
28
Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene. 6 61
22713205 2011
29
An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management. 6 61
19248182 2009
30
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV. 61 6
18043893 2008
31
Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV. 6 61
17728513 2007
32
Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. 54 6
9036918 1997
33
Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV. 61 6
7581395 1995
34
A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen. 54 61 25
7833919 1994
35
A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV. 6 61
1370809 1992
36
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. 61 6
1998337 1991
37
A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. 61 6
2145268 1990
38
Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen. 6 61
6507506 1984
39
Pregnancy complications in type IV Ehlers-Danlos Syndrome. 57 61
6129381 1983
40
Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome. 57 61
437782 1979
41
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 6
30675029 2019
42
Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. 6
30793832 2019
43
Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. 6
30999998 2019
44
Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre. 6
30919682 2019
45
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta. 6
29543232 2018
46
Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD). 6
30115950 2018
47
A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement. 6
29778910 2018
48
Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection. 6
29216800 2018
49
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 6
28349240 2017
50
Genetic testing of 248 Chinese aortopathy patients using a panel assay. 6
27611364 2016
Sources

Variations for Ehlers-Danlos Syndrome, Vascular Type

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ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Vascular Type:

6 (show top 50) (show all 963)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL3A1 NM_000090.3(COL3A1):c.2337G>A (p.Lys779=) SNV Pathogenic 101153 rs587779461 GRCh37: 2:189866176-189866176
GRCh38: 2:189001450-189001450
2 COL3A1 NM_000090.3(COL3A1):c.1831_1832del (p.Asn611fs) Deletion Pathogenic 101154 rs587779462 GRCh37: 2:189862077-189862078
GRCh38: 2:188997351-188997352
3 COL3A1 NM_000090.3(COL3A1):c.3847C>T (p.Gln1283Ter) SNV Pathogenic 101160 rs587779467 GRCh37: 2:189874927-189874927
GRCh38: 2:189010201-189010201
4 COL3A1 NM_000090.3(COL3A1):c.1974_1977+4del Deletion Pathogenic 101169 rs587779475 GRCh37: 2:189863041-189863048
GRCh38: 2:188998315-188998322
5 COL3A1 NM_000090.3(COL3A1):c.2935G>T (p.Glu979Ter) SNV Pathogenic 101184 rs587779488 GRCh37: 2:189870079-189870079
GRCh38: 2:189005353-189005353
6 COL3A1 NM_000090.3(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del) Deletion Pathogenic 101207 rs587779509 GRCh37: 2:189871675-189871692
GRCh38: 2:189006949-189006966
7 COL3A1 NM_000090.3(COL3A1):c.1763_1769delinsTAAG (p.Gly588_Pro590delinsValSer) Indel Pathogenic 101208 rs587779510 GRCh37: 2:189861892-189861898
GRCh38: 2:188997166-188997172
8 COL3A1 NM_000090.3(COL3A1):c.4399T>C (p.Ter1467Gln) SNV Pathogenic 101338 rs587779618 GRCh37: 2:189876498-189876498
GRCh38: 2:189011772-189011772
9 COL3A1 NM_000090.3(COL3A1):c.2022G>A (p.Lys674=) SNV Pathogenic 101376 rs587779643 GRCh37: 2:189863444-189863444
GRCh38: 2:188998718-188998718
10 COL3A1 NM_000090.3(COL3A1):c.3496C>T (p.Arg1166Ter) SNV Pathogenic 101382 rs587779646 GRCh37: 2:189872839-189872839
GRCh38: 2:189008113-189008113
11 COL3A1 NM_000090.4(COL3A1):c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319fs) Indel Pathogenic 101398 rs587779655 GRCh37: 2:189856913-189856932
GRCh38: 2:188992187-188992206
12 COL3A1 NM_000090.3(COL3A1):c.3527_3528GC>AA Indel Pathogenic 101421 rs587779669 GRCh37: 2:189873651-189873652
GRCh38: 2:189008925-189008926
13 COL3A1 NM_000090.3(COL3A1):c.30G>A (p.Trp10Ter) SNV Pathogenic 101435 rs587779677 GRCh37: 2:189839245-189839245
GRCh38: 2:188974519-188974519
14 COL3A1 NM_000090.3(COL3A1):c.1610delG Deletion Pathogenic 101464 rs587779702 GRCh37: 2:189860850-189860850
GRCh38: 2:188996124-188996124
15 COL3A1 NM_000090.3(COL3A1):c.3575_3576insAGGG (p.Pro1193fs) Insertion Pathogenic 101481 rs587779712 GRCh37: 2:189873699-189873700
GRCh38: 2:189008973-189008974
16 COL3A1 NM_000090.3(COL3A1):c.2022G>T (p.Lys674Asn) SNV Pathogenic 101490 rs587779643 GRCh37: 2:189863444-189863444
GRCh38: 2:188998718-188998718
17 COL3A1 NM_000090.3(COL3A1):c.3302G>A (p.Gly1101Glu) SNV Pathogenic 17226 rs121912924 GRCh37: 2:189872272-189872272
GRCh38: 2:189007546-189007546
18 COL3A1 NM_000090.3(COL3A1):c.2879G>T (p.Gly960Val) SNV Pathogenic 17224 rs121912922 GRCh37: 2:189869038-189869038
GRCh38: 2:189004312-189004312
19 COL3A1 NM_000090.3(COL3A1):c.1869+5G>A SNV Pathogenic 17222 rs397509376 GRCh37: 2:189862120-189862120
GRCh38: 2:188997394-188997394
20 COL3A1 NM_000090.3(COL3A1):c.582+6T>C SNV Pathogenic 17220 rs397509375 GRCh37: 2:189852866-189852866
GRCh38: 2:188988140-188988140
21 COL3A1 NM_000090.3(COL3A1):c.406G>C (p.Gly136Arg) SNV Pathogenic 17219 rs387906557 GRCh37: 2:189850463-189850463
GRCh38: 2:188985737-188985737
22 COL3A1 NM_000090.3(COL3A1):c.2490_2516del (p.Glu832_Gly840del) Deletion Pathogenic 17214 rs397509374 GRCh37: 2:189867721-189867747
GRCh38: 2:189002995-189003021
23 COL3A1 NM_000090.3(COL3A1):c.1761+5G>T SNV Pathogenic 17212 rs397509372 GRCh37: 2:189861227-189861227
GRCh38: 2:188996501-188996501
24 COL3A1 COL3A1, GLY373ARG Variation Pathogenic 17210 GRCh37:
GRCh38:
25 COL3A1 NM_000090.3(COL3A1):c.2553+5G>T SNV Pathogenic 17206 rs397509371 GRCh37: 2:189867793-189867793
GRCh38: 2:189003067-189003067
26 COL3A1 NM_000090.3(COL3A1):c.3093+1G>A SNV Pathogenic 17204 rs869312034 GRCh37: 2:189870986-189870986
GRCh38: 2:189006260-189006260
27 COL3A1 NM_000090.3(COL3A1):c.3149G>A (p.Gly1050Asp) SNV Pathogenic 17201 rs121912914 GRCh37: 2:189871126-189871126
GRCh38: 2:189006400-189006400
28 COL3A1 NM_000090.3(COL3A1):c.3257G>T (p.Gly1086Val) SNV Pathogenic 404304 rs1060500203 GRCh37: 2:189872227-189872227
GRCh38: 2:189007501-189007501
29 COL3A1 NM_000090.3(COL3A1):c.1652del (p.Pro551fs) Deletion Pathogenic 404299 rs1060500199 GRCh37: 2:189860893-189860893
GRCh38: 2:188996167-188996167
30 COL3A1 NM_000090.3(COL3A1):c.3833G>A (p.Trp1278Ter) SNV Pathogenic 404267 rs1060500187 GRCh37: 2:189874913-189874913
GRCh38: 2:189010187-189010187
31 COL3A1 NM_000090.3(COL3A1):c.81del (p.Val28fs) Deletion Pathogenic 404300 rs1060500200 GRCh37: 2:189849487-189849487
GRCh38: 2:188984761-188984761
32 COL3A1 NM_000090.3(COL3A1):c.608del (p.Pro203fs) Deletion Pathogenic 459794 rs1553507265 GRCh37: 2:189853337-189853337
GRCh38: 2:188988611-188988611
33 COL3A1 NM_000090.3(COL3A1):c.619G>T (p.Gly207Trp) SNV Pathogenic 459795 rs1553507274 GRCh37: 2:189853352-189853352
GRCh38: 2:188988626-188988626
34 COL3A1 NM_000090.3(COL3A1):c.3194G>A (p.Gly1065Glu) SNV Pathogenic 459785 rs1553509430 GRCh37: 2:189871171-189871171
GRCh38: 2:189006445-189006445
35 COL3A1 NM_000090.3(COL3A1):c.4267G>T (p.Glu1423Ter) SNV Pathogenic 520518 rs1553510000 GRCh37: 2:189876366-189876366
GRCh38: 2:189011640-189011640
36 COL3A1 NM_000090.3(COL3A1):c.2828del (p.Ala943fs) Deletion Pathogenic 529321 rs1553509208 GRCh37: 2:189868987-189868987
GRCh38: 2:189004261-189004261
37 COL3A1 NM_000090.3(COL3A1):c.953G>A (p.Gly318Asp) SNV Pathogenic 529315 rs1553507614 GRCh37: 2:189856911-189856911
GRCh38: 2:188992185-188992185
38 COL3A1 NM_000090.3(COL3A1):c.2569C>T (p.Gln857Ter) SNV Pathogenic 566570 rs1559060412 GRCh37: 2:189868152-189868152
GRCh38: 2:189003426-189003426
39 COL3A1 NM_000090.3(COL3A1):c.4011+1G>T SNV Pathogenic 575052 rs112532745 GRCh37: 2:189875092-189875092
GRCh38: 2:189010366-189010366
40 COL3A1 NM_000090.3(COL3A1):c.134G>A (p.Trp45Ter) SNV Pathogenic 575406 rs1559052609 GRCh37: 2:189849540-189849540
GRCh38: 2:188984814-188984814
41 COL3A1 NM_000090.3(COL3A1):c.1684C>T (p.Arg562Ter) SNV Pathogenic 577225 rs375737772 GRCh37: 2:189861145-189861145
GRCh38: 2:188996419-188996419
42 COL3A1 NM_000090.3(COL3A1):c.2392-3_2395del Deletion Pathogenic 580085 rs1559059873 GRCh37: 2:189867021-189867027
GRCh38: 2:189002295-189002301
43 COL3A1 NC_000002.11:g.(?_189839196)_(189839314_?)dup Duplication Pathogenic 583627 GRCh37: 2:189839196-189839314
GRCh38: 2:188974470-188974588
44 COL3A1 NM_000090.3(COL3A1):c.2051G>A (p.Gly684Glu) SNV Pathogenic 650784 rs587779587 GRCh37: 2:189864039-189864039
GRCh38: 2:188999313-188999313
45 COL3A1 NM_000090.3(COL3A1):c.937_938dup (p.Pro314fs) Duplication Pathogenic 650847 rs772827388 GRCh37: 2:189856433-189856434
GRCh38: 2:188991707-188991708
46 COL3A1 NM_000090.3(COL3A1):c.1502G>A (p.Gly501Glu) SNV Pathogenic 581735 rs1559056621 GRCh37: 2:189859818-189859818
GRCh38: 2:188995092-188995092
47 COL3A1 NM_000090.3(COL3A1):c.3255+1G>C SNV Pathogenic 651201 rs587779480 GRCh37: 2:189871717-189871717
GRCh38: 2:189006991-189006991
48 COL3A1 NM_000090.3(COL3A1):c.691-2A>G SNV Pathogenic 651878 rs1576463100 GRCh37: 2:189854820-189854820
GRCh38: 2:188990094-188990094
49 COL3A1 NM_000090.3(COL3A1):c.826G>A (p.Gly276Ser) SNV Pathogenic 659067 rs1576463632 GRCh37: 2:189855757-189855757
GRCh38: 2:188991031-188991031
50 COL3A1 NM_000090.3(COL3A1):c.845G>T (p.Gly282Val) SNV Pathogenic 664376 rs1576463663 GRCh37: 2:189855776-189855776
GRCh38: 2:188991050-188991050

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Vascular Type:

72 (show top 50) (show all 101)
# Symbol AA change Variation ID SNP ID
1 COL3A1 p.Gly183Cys VAR_001768 rs121912926
2 COL3A1 p.Gly201Arg VAR_001769 rs587779436
3 COL3A1 p.Gly228Glu VAR_001770 rs587779555
4 COL3A1 p.Gly303Arg VAR_001771 rs121912919
5 COL3A1 p.Gly540Arg VAR_001772 rs587779584
6 COL3A1 p.Gly567Glu VAR_001773
7 COL3A1 p.Gly582Ser VAR_001774 rs121912923
8 COL3A1 p.Gly666Asp VAR_001777 rs121912921
9 COL3A1 p.Gly726Arg VAR_001779 rs587779638
10 COL3A1 p.Gly756Glu VAR_001780
11 COL3A1 p.Gly762Cys VAR_001781
12 COL3A1 p.Gly786Arg VAR_001782 rs113485686
13 COL3A1 p.Gly804Ser VAR_001783 rs121912920
14 COL3A1 p.Gly828Arg VAR_001784
15 COL3A1 p.Gly909Asp VAR_001785
16 COL3A1 p.Gly936Arg VAR_001786 rs587779566
17 COL3A1 p.Gly936Ser VAR_001787
18 COL3A1 p.Gly939Asp VAR_001788 rs112978464
19 COL3A1 p.Gly957Ser VAR_001789 rs121912913
20 COL3A1 p.Gly960Val VAR_001790 rs121912922
21 COL3A1 p.Gly996Glu VAR_001791 rs587779576
22 COL3A1 p.Gly1014Glu VAR_001792 rs121912916
23 COL3A1 p.Gly1050Asp VAR_001793 rs121912914
24 COL3A1 p.Gly1071Val VAR_001794 rs587779709
25 COL3A1 p.Gly1077Val VAR_001795 rs121912915
26 COL3A1 p.Gly1101Glu VAR_001796 rs121912924
27 COL3A1 p.Gly1104Ala VAR_001797
28 COL3A1 p.Gly1167Val VAR_001799 rs587779578
29 COL3A1 p.Gly1170Asp VAR_001800 rs587779465
30 COL3A1 p.Gly1173Glu VAR_001801 rs121912918
31 COL3A1 p.Gly1176Val VAR_001802
32 COL3A1 p.Gly1182Glu VAR_001803 rs111505097
33 COL3A1 p.Gly1185Asp VAR_001804 rs121912917
34 COL3A1 p.Gly1185Val VAR_001805 rs121912917
35 COL3A1 p.Gly1188Glu VAR_001806 rs112456072
36 COL3A1 p.Gly1188Arg VAR_001807 rs587779504
37 COL3A1 p.Gly183Asp VAR_011095 rs587779420
38 COL3A1 p.Gly183Ser VAR_011096 rs121912926
39 COL3A1 p.Gly192Val VAR_011097 rs587779710
40 COL3A1 p.Gly204Asp VAR_011098 rs587779626
41 COL3A1 p.Gly204Ser VAR_011099 rs587779711
42 COL3A1 p.Gly210Asp VAR_011100
43 COL3A1 p.Gly219Cys VAR_011101 rs587779624
44 COL3A1 p.Gly225Val VAR_011102 rs587779533
45 COL3A1 p.Gly240Arg VAR_011103 rs587779468
46 COL3A1 p.Gly243Val VAR_011104 rs587779629
47 COL3A1 p.Gly249Asp VAR_011105 rs121912927
48 COL3A1 p.Gly249Val VAR_011106 rs121912927
49 COL3A1 p.Gly252Asp VAR_011107 rs587779464
50 COL3A1 p.Gly252Arg VAR_011108 rs587779705

Sources

Expression for Ehlers-Danlos Syndrome, Vascular Type

About this section
Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Vascular Type.
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Pathways for Ehlers-Danlos Syndrome, Vascular Type

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Pathways related to Ehlers-Danlos Syndrome, Vascular Type according to KEGG:

36
# Name Kegg Source Accession
1 Relaxin signaling pathway hsa04926

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

# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.34 TGFB2 MYH11 FBN1 ELN COL5A1 COL3A1
2
Phospholipase-C Pathway 63
Show member pathways
 12.33 TGFB2 FBN1 ELN COL5A1 COL3A1 ACTA2
3
Integrin Pathway 63
Show member pathways
 12.31 TGFB2 MYH11 FBN1 ELN COL5A1 COL3A1
4
Degradation of the extracellular matrix 65
Show member pathways
 12.21 TGFB2 FBN1 ELN COL5A1 COL3A1
5
Elastic fibre formation 65
Show member pathways
 11.41 TGFB2 FBN1 ELN
6
miRNA targets in ECM and membrane receptors 1
11.07 COL5A1 COL3A1
7
Smooth Muscle Contraction 65
10.96 MYH11 ACTA2
8
G-protein signaling_Rap2B regulation pathway 23
10.56 TGFB2 FBN1 ELN COL5A1 COL3A1
Sources

GO Terms for Ehlers-Danlos Syndrome, Vascular Type

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.65 TGFB2 FBN1 COL5A1 COL3A1 ACTA2
2 endoplasmic reticulum lumen GO:0005788 9.33 FBN1 COL5A1 COL3A1
3 extracellular matrix GO:0031012 9.26 FBN1 ELN COL5A1 COL3A1
4 collagen-containing extracellular matrix GO:0062023 9.02 TGFB2 FBN1 ELN COL5A1 COL3A1

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

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.5 TGFB2 FBN1 COL3A1
2 skeletal system development GO:0001501 9.43 TGFB2 FBN1 COL3A1
3 heart morphogenesis GO:0003007 9.4 TGFB2 COL5A1
4 skin development GO:0043588 9.37 COL5A1 COL3A1
5 extracellular matrix organization GO:0030198 9.26 FBN1 ELN COL5A1 COL3A1
6 supramolecular fiber organization GO:0097435 9.16 COL5A1 COL3A1
7 collagen fibril organization GO:0030199 8.8 TGFB2 COL5A1 COL3A1

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.43 FBN1 COL5A1 COL3A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.32 COL5A1 COL3A1
3 platelet-derived growth factor binding GO:0048407 9.16 COL5A1 COL3A1
4 extracellular matrix constituent conferring elasticity GO:0030023 8.96 FBN1 ELN
5 extracellular matrix structural constituent GO:0005201 8.92 FBN1 ELN COL5A1 COL3A1
Sources

Sources for Ehlers-Danlos Syndrome, Vascular Type

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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