EDSVASC
MCID: EHL052
MIFTS: 65

Ehlers-Danlos Syndrome, Vascular Type (EDSVASC)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ehlers-Danlos Syndrome, Vascular Type

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

Name: Ehlers-Danlos Syndrome, Vascular Type 57 24 19 73
Eds Iv 57 19 58 73 53
Sack-Barabas Syndrome 19 58 73 75
Vascular Ehlers-Danlos Syndrome 24 19 58
Eds4 57 19 73
Veds 24 19 58
Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant 57 73
Vascular Type Ehlers-Danlos Syndrome 11 14
Ehlers-Danlos Syndrome, Type Iv 12 71
Ehlers-Danlos Syndrome, Type 4 28 5
Ehlers-Danlos Syndrome Type 4 19 58
Arterial-Ecchymotic Eds 19 58
Vascular Eds 19 58
Edsvasc 57 73
Autosomal Dominant Type Iv Ehlers-Danlos Syndrome 11
Ehlers-Danlos Syndrome, Sack-Barabas Type 57
Ehlers Danlos Syndrome, Sack-Barabas Type 19
Ehlers-Danlos Syndrome, Ecchymotic Type 57
Ehlers Danlos Syndrome, Ecchymotic Type 19
Ehlers-Danlos Syndrome Ecchymotic Type 73
Ehlers-Danlos Syndrome, Type 4 Variant 28
Ehlers-Danlos Syndrome, Arterial Type 57
Ehlers Danlos Syndrome, Arterial Type 19
Ehlers-Danlos, Vascular Type Syndrome 38
Ehlers-Danlos Syndrome Arterial Type 73
Ehlers-Danlos Syndrome Type Iv 19
Ehlers-Danlos Syndrome 4 73
Eds Type Iv 24
Eds Type 4 19

Characteristics:


Inheritance:

Ehlers-Danlos Syndrome, Vascular Type: Autosomal dominant 57
Vascular Ehlers-Danlos Syndrome: Autosomal dominant,Autosomal recessive 58

Age Of Onset:

Vascular Ehlers-Danlos Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
death usually occurs before 5th decade
autosomal recessive inheritance has been reported in 1 family (as of april 2011)


GeneReviews:

24
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:

Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Ehlers-Danlos Syndrome, Vascular Type

GARD: 19 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 in the COL3A1 gene. Rarely, it may be caused by a genetic change in the COL1A1 gene. Inheritance is autosomal dominant.

MalaCards based summary: Ehlers-Danlos Syndrome, Vascular Type, also known as eds iv, is related to hypermobile ehlers-danlos syndrome and varicose veins, 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 ERK Signaling and Signal Transduction. The drugs Irbesartan and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are global developmental delay and hypertelorism

UniProtKB/Swiss-Prot: 73 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.

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 08-Dec-2022)

Disease Ontology: 11 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.

Orphanet: 58 A rare genetic connective tissue disorder typically 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.

Wikipedia: 75 Sack-Barabas syndrome is an older name for the medical condition vascular Ehlers-Danlos syndrome (vEDS).... more...

GeneReviews: NBK1494

Related Diseases for Ehlers-Danlos Syndrome, Vascular Type

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

(show top 50) (show all 218)
# Related Disease Score Top Affiliating Genes
1 hypermobile ehlers-danlos syndrome 30.7 FBN1 COL3A1
2 varicose veins 30.4 FBN1 ELN COL3A1
3 subclavian artery aneurysm 30.4 FBN1 ELN
4 hypermobility syndrome 30.3 FBN1 COL3A1
5 brittle bone disorder 30.3 FBN1 ELN COL3A1
6 tricuspid valve insufficiency 30.2 MYH11 FBN1
7 collagen disease 30.2 FBN1 ELN COL3A1 ACTA2
8 marfan syndrome 30.0 FBN1 ELN COL3A1 ACTA2
9 atrial heart septal defect 30.0 MYH11 FBN1 ELN
10 mitral valve insufficiency 30.0 MYH11 FBN1 ELN
11 pneumothorax 30.0 FBN1 FBLN5 ELN
12 aortic valve insufficiency 29.7 MYH11 FBN1 ELN EFEMP2 ACTA2
13 connective tissue disease 29.6 FBN1 FBLN5 ELN COL3A1 ACTA2
14 inguinal hernia 29.4 FBN1 FBLN5 ELN EFEMP2 COL3A1
15 aortic aneurysm, familial thoracic 4 29.4 MYH11 FBN1 COL3A1 ACTA2
16 aortic aneurysm, familial abdominal, 1 29.4 MYH11 FBN1 ELN EFEMP2 COL3A1 ACTA2
17 orthostatic intolerance 29.2 MYH11 FBN1 ELN EFEMP2 COL3A1 ACTA2
18 aortic disease 29.2 MYH11 FBN1 ELN EFEMP2 COL3A1 ACTA2
19 aortic aneurysm 28.8 MYLK MYH11 FBN1 FBLN5 ELN EFEMP2
20 aortic dissection 28.8 MYH11 FBN1 FBLN5 ELN EFEMP2 COL3A1
21 ehlers-danlos syndrome 28.8 MYLK MYH11 FBN1 FBLN5 ELN EFEMP2
22 loeys-dietz syndrome 28.7 MYLK MYH11 FBN1 FBLN5 ELN EFEMP2
23 patent ductus arteriosus 1 28.7 MYLK MYH11 FBN1 ELN EFEMP2 COL3A1
24 arterial tortuosity syndrome 28.1 MYLK MYH11 FBN1 FBLN5 ELN EFEMP2
25 aortic aneurysm, familial thoracic 1 27.8 MYLK MYH11 FBN1 FBLN5 ELN EFEMP2
26 polymicrogyria with or without vascular-type ehlers-danlos syndrome 11.9
27 loeys-dietz syndrome 1 10.5
28 peritonitis 10.4
29 cardiac arrest 10.3
30 carotid artery dissection 10.3
31 cerebral aneurysms 10.3
32 cerebrovascular disease 10.3
33 coronary artery dissection, spontaneous 10.2
34 constricting bands, congenital 10.2
35 pyelonephritis 10.2
36 clubfoot 10.2
37 hemosiderosis 10.2
38 myocarditis 10.2
39 vasculitis 10.2
40 chronic pain 10.2
41 acroosteolysis 10.2
42 gastroesophageal reflux 10.2
43 cardiac conduction defect 10.2
44 spondylocostal dysostosis 5 10.2
45 ehlers-danlos syndrome, periodontal type, 1 10.2
46 retinal detachment 10.2
47 roussy-levy hereditary areflexic dystasia 10.2
48 cystic fibrosis 10.2
49 ehlers-danlos syndrome, kyphoscoliotic type, 1 10.2
50 hydrocephalus, congenital, 1 10.2

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



Diseases related to Ehlers-Danlos Syndrome, Vascular Type

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Vascular Type

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

58 30 (show top 50) (show all 128)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
2 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
3 carious teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000670
4 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
5 cognitive impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100543
6 hypokalemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002900
7 cryptorchidism 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000028
8 epicanthus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000286
9 pectus excavatum 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000767
10 melanocytic nevus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000995
11 aortic dissection 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002647
12 pneumothorax 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002107
13 abnormal eyelash morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000499
14 sprengel anomaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000912
15 mitral valve prolapse 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001634
16 aplasia/hypoplasia of the earlobes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009906
17 protruding ear 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000411
18 telecanthus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000506
19 bladder diverticulum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000015
20 macule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012733
21 bruising susceptibility 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000978
22 internal hemorrhage 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011029
23 aplasia/hypoplasia of the eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100840
24 gastrointestinal infarctions 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005244
25 peripheral arteriovenous fistula 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100784
26 abnormal oral frenulum morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000190
27 thin skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000963
28 dermal translucency 58 30 Very rare (1%) Very frequent (99-80%)
HP:0010648
29 respiratory insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0002093
30 flat face 58 30 Frequent (33%) Frequent (79-30%)
HP:0012368
31 arterial dissection 58 30 Frequent (33%) Frequent (79-30%)
HP:0005294
32 talipes equinovarus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001762
33 telangiectasia of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0100585
34 glaucoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000501
35 proptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000520
36 varicose veins 58 30 Frequent (33%) Frequent (79-30%)
HP:0002619
37 thin vermilion border 58 30 Frequent (33%) Frequent (79-30%)
HP:0000233
38 premature birth 58 30 Frequent (33%) Frequent (79-30%)
HP:0001622
39 arteriovenous fistulas of celiac and mesenteric vessels 58 30 Frequent (33%) Frequent (79-30%)
HP:0002642
40 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
41 sleep apnea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010535
42 inguinal hernia 58 30 Very rare (1%) Occasional (29-5%)
HP:0000023
43 gingival overgrowth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000212
44 umbilical hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001537
45 reduced consciousness/confusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004372
46 microdontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000691
47 aplasia/hypoplasia of the abdominal wall musculature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010318
48 high, narrow palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002705
49 alopecia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001596
50 hemoptysis 58 30 Very rare (1%) Occasional (29-5%)
HP:0002105

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen External Features:
inguinal hernia

Respiratory Lung:
hemoptysis
spontaneous pneumothorax

Head And Neck Eyes:
keratoconus

Skin Nails Hair Hair:
alopecia of scalp

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

Cardiovascular Heart:
mitral valve prolapse

Skin Nails Hair Skin:
cigarette-paper scars
fragile skin
molluscoid pseudotumors
easy bruisability
atrophic skin over ears
more
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 08-Dec-2022)

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


hemoptysis

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.76 ACTA2 COL3A1 EFEMP2 ELN FBLN5 FBN1
2 cardiovascular system MP:0005385 9.56 ACTA2 COL3A1 EFEMP2 ELN FBLN5 FBN1
3 respiratory system MP:0005388 9.1 COL3A1 EFEMP2 ELN FBLN5 FBN1 MYH11

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Vascular Type

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
2
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
3
Celiprolol Approved, Investigational Phase 3 56980-93-9 2663
4
Angiotensinogen Phase 3 16133225
5 Angiotensin Receptor Antagonists Phase 3
6 Angiotensin II Type 1 Receptor Blockers Phase 3
7 Giapreza Phase 3
8 Antihypertensive Agents Phase 3
9 Adrenergic beta-Antagonists Phase 3
10 Adrenergic beta-1 Receptor Antagonists Phase 3
11 Adrenergic Antagonists Phase 3
12 Adrenergic Agents Phase 3
13 Anti-Arrhythmia Agents Phase 3
14 Neurotransmitter Agents Phase 3
15 Vasodilator Agents Phase 3
16 Sympathomimetics Phase 3
17
Tocopherol Approved, Investigational Phase 2 1406-66-2
18
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2 59-02-9, 10191-41-0 2116 14985
19
Tocotrienol Investigational Phase 2 6829-55-6 9929901
20 Liver Extracts Phase 2
21 Vitamins Phase 2
22 Trace Elements Phase 2
23 Antioxidants Phase 2
24 Micronutrients Phase 2
25 Protective Agents Phase 2
26 Tocotrienols Phase 2
27 Tocopherols Phase 2
28
Thrombin Approved, Investigational
29 Hemostatics

Interventional clinical trials:


# 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 Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome: a Double Blind, Randomized, Placebo Controlled, Multicenter Trial. Completed NCT02597361 Phase 3 Irbesartan;Placebo
3 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
4 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
5 Vitamin E Dosing Study (VEDS): A Dose Finding Study of Vitamin E for the Treatment of Adult NAFLD Recruiting NCT04801849 Phase 2 Vitamin E;Placebo
6 Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome Unknown status NCT03596437
7 Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome Completed NCT02165085
8 Establishment of Local Arterial Stiffness Normal Values (Carotid and Femoral) on Healthy Volunteers Using Supersonic Shear Imaging Completed NCT01096264
9 Disordered Bleeding in Ehlers Danlos Syndromes Enrolling by invitation NCT05434728

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

Genetic Tests for Ehlers-Danlos Syndrome, Vascular Type

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

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 4 28 COL3A1
2 Ehlers-Danlos Syndrome, Type 4 Variant 28

Anatomical Context for Ehlers-Danlos Syndrome, Vascular Type

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

MalaCards : Skin, Bone, Eye, Heart, Lung, Liver, Colon
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Ehlers-Danlos Syndrome, Vascular Type

Articles related to Ehlers-Danlos Syndrome, Vascular Type:

(show top 50) (show all 820)
# Title Authors PMID Year
1
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 62 24 57 5
24922459 2014
2
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism. 62 24 57 5
12786757 2003
3
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 62 24 57 5
10706896 2000
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. 53 62 57 5
12694234 2003
5
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. 62 57 5
10051163 1999
6
Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV. 62 57 5
8680408 1995
7
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. 62 57 5
1352273 1992
8
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. 62 57 5
2243125 1990
9
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. 62 57 5
2349939 1990
10
Angiographic abnormalities mimicking fibromuscular dysplasia in a patient with Ehlers-Danlos syndrome, type IV. 62 57 5
2771024 1989
11
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. 62 57 5
2834369 1988
12
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. 62 57 5
3162228 1988
13
Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child. 62 57 5
6477831 1984
14
EDS IV (acrogeria): new autosomal dominant and recessive types. 62 57 5
7230200 1980
15
Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. 62 24 5
30474650 2019
16
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 62 24 5
25758994 2015
17
Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome. 62 24 57
24922461 2014
18
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes. 62 24 5
24650746 2014
19
Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study. 62 24 5
22492385 2012
20
COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. 62 24 57
21637106 2011
21
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. 62 24 57
11577371 2001
22
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. 62 24 5
8881656 1996
23
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 5
1496983 1992
24
Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say. 57 5
1939638 1991
25
Spontaneous carotid cavernous fistula in Ehlers Danlos syndrome. 57 5
3204406 1988
26
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. 24 5
20648054 2010
27
Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. 53 62 5
10923041 2000
28
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. 53 62 5
9036918 1997
29
Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. 53 62 5
1757960 1991
30
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology. 62 5
31600821 2020
31
A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. 62 5
31126764 2019
32
Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. 62 5
30793832 2019
33
Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre. 62 5
30919682 2019
34
Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. 62 5
24399159 2014
35
Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts. 62 5
22038052 2012
36
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. 62 5
22019127 2011
37
Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene. 62 5
22713205 2011
38
Traumatic subarachnoid hemorrhage and the COL3A1 gene: emergence of a potential causal link. 62 5
21086191 2011
39
Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome. 62 5
20518783 2010
40
MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV. 62 5
18043893 2008
41
Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan. 62 5
17251678 2007
42
Familial cervical artery dissections: clinical, morphologic, and genetic studies. 62 5
17053184 2006
43
Increased carotid wall stress in vascular Ehlers-Danlos syndrome. 62 57
15007000 2004
44
Vascular Ehlers-Danlos syndrome. 62 57
15127738 2004
45
Ehlers-Danlos syndrome type IV. 62 57
10928897 2000
46
Ehlers-Danlos syndrome type IV. 62 5
10928898 2000
47
Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV. 62 5
9399899 1997
48
A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV. 62 5
8990011 1997
49
Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen. 62 5
9147870 1996
50
A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV. 62 5
8664902 1996

Variations for Ehlers-Danlos Syndrome, Vascular Type

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

5 (show top 50) (show all 1398)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL3A1 NM_000090.4(COL3A1):c.3149G>A (p.Gly1050Asp) SNV Pathogenic
17201 rs121912914 GRCh37: 2:189871126-189871126
GRCh38: 2:189006400-189006400
2 COL3A1 NM_000090.4(COL3A1):c.1149+1G>A SNV Pathogenic
17203 rs587779443 GRCh37: 2:189858186-189858186
GRCh38: 2:188993460-188993460
3 COL3A1 NM_000090.4(COL3A1):c.3093+1G>A SNV Pathogenic
17204 rs869312034 GRCh37: 2:189870986-189870986
GRCh38: 2:189006260-189006260
4 COL3A1 NM_000090.4(COL3A1):c.2553+5G>T SNV Pathogenic
17206 rs397509371 GRCh37: 2:189867793-189867793
GRCh38: 2:189003067-189003067
5 COL3A1 and overlap with 1 gene(s) NM_000090.4(COL3A1):c.650_1663-83del DEL Pathogenic
17207 GRCh37: 2:189854133-189861039
GRCh38: 2:188989407-188996313
6 COL3A1 NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp) SNV Pathogenic
17208 rs121912927 GRCh37: 2:189855034-189855034
GRCh38: 2:188990308-188990308
7 COL3A1 NM_000090.4(COL3A1):c.3230G>T (p.Gly1077Val) SNV Pathogenic
17209 rs121912915 GRCh37: 2:189871691-189871691
GRCh38: 2:189006965-189006965
8 COL3A1 COL3A1, GLY373ARG VAR Pathogenic
17210 GRCh37:
GRCh38:
9 COL3A1 NM_000090.4(COL3A1):c.1655G>A (p.Gly552Glu) SNV Pathogenic
17211 rs121912928 GRCh37: 2:189860897-189860897
GRCh38: 2:188996171-188996171
10 COL3A1 NM_000090.4(COL3A1):c.1761+5G>T SNV Pathogenic
17212 rs397509372 GRCh37: 2:189861227-189861227
GRCh38: 2:188996501-188996501
11 COL3A1 NM_000090.4(COL3A1):c.2931+1G>A SNV Pathogenic
17213 rs397509373 GRCh37: 2:189869091-189869091
GRCh38: 2:189004365-189004365
12 COL3A1 NM_000090.4(COL3A1):c.2490_2516del (p.Glu832_Gly840del) DEL Pathogenic
17214 rs397509374 GRCh37: 2:189867721-189867747
GRCh38: 2:189002995-189003021
13 COL3A1 NM_000090.4(COL3A1):c.3041G>A (p.Gly1014Glu) SNV Pathogenic
17215 rs121912916 GRCh37: 2:189870933-189870933
GRCh38: 2:189006207-189006207
14 COL3A1 NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp) SNV Pathogenic
17216 rs121912917 GRCh37: 2:189873678-189873678
GRCh38: 2:189008952-189008952
15 COL3A1 NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu) SNV Pathogenic
17218 rs112456072 GRCh37: 2:189873687-189873687
GRCh38: 2:189008961-189008961
16 COL3A1 NM_000090.4(COL3A1):c.406G>C (p.Gly136Arg) SNV Pathogenic
17219 rs387906557 GRCh37: 2:189850463-189850463
GRCh38: 2:188985737-188985737
17 COL3A1 NM_000090.4(COL3A1):c.582+6T>C SNV Pathogenic
17220 rs397509375 GRCh37: 2:189852866-189852866
GRCh38: 2:188988140-188988140
18 COL3A1 NM_000090.4(COL3A1):c.1869+5G>A SNV Pathogenic
17222 rs397509376 GRCh37: 2:189862120-189862120
GRCh38: 2:188997394-188997394
19 COL3A1 NM_000090.4(COL3A1):c.2879G>T (p.Gly960Val) SNV Pathogenic
17224 rs121912922 GRCh37: 2:189869038-189869038
GRCh38: 2:189004312-189004312
20 COL3A1 NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) SNV Pathogenic
17225 rs121912923 GRCh37: 2:189861205-189861205
GRCh38: 2:188996479-188996479
21 COL3A1 NM_000090.4(COL3A1):c.3302G>A (p.Gly1101Glu) SNV Pathogenic
17226 rs121912924 GRCh37: 2:189872272-189872272
GRCh38: 2:189007546-189007546
22 COL3A1 NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser) SNV Pathogenic
17227 rs121912925 GRCh37: 2:189864286-189864286
GRCh38: 2:188999560-188999560
23 COL3A1 NM_000090.4(COL3A1):c.3149G>T (p.Gly1050Val) SNV Pathogenic
17231 rs121912914 GRCh37: 2:189871126-189871126
GRCh38: 2:189006400-189006400
24 COL3A1 NM_000090.4(COL3A1):c.2977G>T (p.Gly993Cys) SNV Pathogenic
101101 rs587779416 GRCh37: 2:189870121-189870121
GRCh38: 2:189005395-189005395
25 COL3A1 NM_000090.4(COL3A1):c.2600G>A (p.Gly867Asp) SNV Pathogenic
101102 rs587779417 GRCh37: 2:189868183-189868183
GRCh38: 2:189003457-189003457
26 COL3A1 NM_000090.4(COL3A1):c.2276G>A (p.Gly759Asp) SNV Pathogenic
101103 rs587779418 GRCh37: 2:189864614-189864614
GRCh38: 2:188999888-188999888
27 COL3A1 NM_000090.4(COL3A1):c.1033G>A (p.Gly345Arg) SNV Pathogenic
101104 rs587779419 GRCh37: 2:189857649-189857649
GRCh38: 2:188992923-188992923
28 COL3A1 NM_000090.4(COL3A1):c.548G>A (p.Gly183Asp) SNV Pathogenic
101105 rs587779420 GRCh37: 2:189852826-189852826
GRCh38: 2:188988100-188988100
29 COL3A1 NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp) SNV Pathogenic
101106 rs553203474 GRCh37: 2:189864296-189864296
GRCh38: 2:188999570-188999570
30 COL3A1 NM_000090.4(COL3A1):c.1916G>A (p.Gly639Glu) SNV Pathogenic
101107 rs587779421 GRCh37: 2:189862472-189862472
GRCh38: 2:188997746-188997746
31 COL3A1 NM_000090.4(COL3A1):c.951+5G>A SNV Pathogenic
101108 rs587779422 GRCh37: 2:189856453-189856453
GRCh38: 2:188991727-188991727
32 COL3A1 NM_000090.4(COL3A1):c.951+6T>C SNV Pathogenic
101109 rs587779423 GRCh37: 2:189856454-189856454
GRCh38: 2:188991728-188991728
33 COL3A1 NM_000090.4(COL3A1):c.2823+1G>A SNV Pathogenic
101110 rs587779424 GRCh37: 2:189868870-189868870
GRCh38: 2:189004144-189004144
34 COL3A1 NM_000090.4(COL3A1):c.951_951+14del DEL Pathogenic
101111 rs587779425 GRCh37: 2:189856443-189856457
GRCh38: 2:188991717-188991731
35 COL3A1 NM_000090.4(COL3A1):c.951+2T>A SNV Pathogenic
101112 rs587779426 GRCh37: 2:189856450-189856450
GRCh38: 2:188991724-188991724
36 COL3A1 NM_000090.4(COL3A1):c.800G>T (p.Gly267Val) SNV Pathogenic
101113 rs587779427 GRCh37: 2:189855731-189855731
GRCh38: 2:188991005-188991005
37 COL3A1 NM_000090.4(COL3A1):c.3095G>T (p.Gly1032Val) SNV Pathogenic
101114 rs587779428 GRCh37: 2:189871072-189871072
GRCh38: 2:189006346-189006346
38 COL3A1 NM_000090.4(COL3A1):c.2022+2T>C SNV Pathogenic
101115 rs587779429 GRCh37: 2:189863446-189863446
GRCh38: 2:188998720-188998720
39 COL3A1 NM_000090.4(COL3A1):c.1744G>C (p.Gly582Arg) SNV Pathogenic
101116 rs121912923 GRCh37: 2:189861205-189861205
GRCh38: 2:188996479-188996479
40 COL3A1 NM_000090.4(COL3A1):c.1189_1194+23del DEL Pathogenic
101117 rs587779430 GRCh37: 2:189858801-189858829
GRCh38: 2:188994075-188994103
41 COL3A1 NM_000090.4(COL3A1):c.907G>A (p.Gly303Arg) SNV Pathogenic
101131 rs121912919 GRCh37: 2:189856404-189856404
GRCh38: 2:188991678-188991678
42 COL3A1 NM_000090.4(COL3A1):c.3417+1G>A SNV Pathogenic
101132 rs587779444 GRCh37: 2:189872665-189872665
GRCh38: 2:189007939-189007939
43 COL3A1 NM_000090.4(COL3A1):c.3347G>T (p.Gly1116Val) SNV Pathogenic
101133 rs587779445 GRCh37: 2:189872317-189872317
GRCh38: 2:189007591-189007591
44 COL3A1 and overlap with 1 gene(s) NM_000090.4(COL3A1):c.1456-82_1977+177del DEL Pathogenic
101134 GRCh37: 2:189859687-189863219
GRCh38: 2:188994961-188998493
45 COL3A1 NM_000090.4(COL3A1):c.556G>A (p.Gly186Ser) SNV Pathogenic
101135 rs587779446 GRCh37: 2:189852834-189852834
GRCh38: 2:188988108-188988108
46 COL3A1 NM_000090.4(COL3A1):c.2842G>A (p.Gly948Arg) SNV Pathogenic
101136 rs587779447 GRCh37: 2:189869001-189869001
GRCh38: 2:189004275-189004275
47 COL3A1 NM_000090.4(COL3A1):c.3417+5G>A SNV Pathogenic
101137 rs587779448 GRCh37: 2:189872669-189872669
GRCh38: 2:189007943-189007943
48 COL3A1 NM_000090.4(COL3A1):c.2941G>C (p.Gly981Arg) SNV Pathogenic
101138 rs587779449 GRCh37: 2:189870085-189870085
GRCh38: 2:189005359-189005359
49 COL3A1 NM_000090.4(COL3A1):c.951+2T>C SNV Pathogenic
101140 rs587779426 GRCh37: 2:189856450-189856450
GRCh38: 2:188991724-188991724
50 COL3A1 NM_000090.4(COL3A1):c.555del (p.Gly186fs) DEL Pathogenic
101141 rs587779451 GRCh37: 2:189852833-189852833
GRCh38: 2:188988107-188988107

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

73 (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 rs1576468562
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

Expression for Ehlers-Danlos Syndrome, Vascular Type

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

Pathways for Ehlers-Danlos Syndrome, Vascular Type

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 ACTA2 COL3A1 EFEMP2 ELN FBN1 MYH11
2 13.37 MYLK MYH11 KLC4 FBN1 COL3A1 ACTA2
3
Show member pathways
12.73 FBN1 ELN EFEMP2 COL3A1 ACTA2
4
Show member pathways
12.64 MYLK MYH11 FBN1 ELN EFEMP2 COL3A1
5
Show member pathways
12.23 MYLK MYH11 ACTA2
6
Show member pathways
12.2 FBN1 FBLN5 ELN EFEMP2 COL3A1
7 11.5 FBN1 FBLN5 ELN
8 11.18 MYLK MYH11 ACTA2
9 11.09 MYLK MYH11 ACTA2
10
Show member pathways
10.83 FBN1 FBLN5 ELN EFEMP2
11 10.62 MYLK FBN1 ELN EFEMP2 COL3A1

GO Terms for Ehlers-Danlos Syndrome, Vascular Type

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.85 FBN1 FBLN5 ELN EFEMP2 COL3A1
2 basement membrane GO:0005604 9.73 FBN1 EFEMP2 ACTA2
3 extracellular matrix GO:0031012 9.65 FBN1 FBLN5 ELN EFEMP2 COL3A1
4 microfibril GO:0001527 9.62 FBN1 EFEMP2
5 elastic fiber GO:0071953 9.1 FBLN5 ELN EFEMP2

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

# Name GO ID Score Top Affiliating Genes
1 smooth muscle contraction GO:0006939 9.46 MYLK MYH11
2 aorta development GO:0035904 9.43 EFEMP2 COL3A1
3 aorta smooth muscle tissue morphogenesis GO:0060414 9.43 MYLK EFEMP2 COL3A1
4 elastic fiber assembly GO:0048251 9.23 MYH11 FBLN5 EFEMP2 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 9.63 FBN1 FBLN5 COL3A1
2 extracellular matrix structural constituent GO:0005201 9.56 FBN1 ELN EFEMP2 COL3A1
3 extracellular matrix constituent conferring elasticity GO:0030023 9.1 FBN1 FBLN5 ELN

Sources for Ehlers-Danlos Syndrome, Vascular Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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