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EDSVASC
MCID: EHL052
MIFTS: 56

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 24 53 59 75
Eds Iv 57 53 59 75 55
Ehlers-Danlos Syndrome, Type 4 29 6 40
Sack-Barabas Syndrome 53 59 75
Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant 57 75
Vascular Ehlers-Danlos Syndrome 24 53
Ehlers-Danlos Syndrome, Type Iv 13 73
Ehlers-Danlos Syndrome Type Iv 53 59
Ehlers-Danlos Syndrome Type 4 53 59
Eds Type 4 53 59
Edsvasc 57 75
Eds4 57 75
Veds 24 53
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 53
Ehlers-Danlos Syndrome, Ecchymotic Type 57
Ehlers Danlos Syndrome, Ecchymotic Type 53
Ehlers-Danlos Syndrome Ecchymotic Type 75
Ehlers-Danlos Syndrome, Type 4 Variant 29
Ehlers-Danlos Syndrome, Arterial Type 57
Ehlers Danlos Syndrome, Arterial Type 53
Ehlers-Danlos Syndrome Arterial Type 75
Ehlers-Danlos Syndrome 4 75
Vascular Eds 53
Eds Type Iv 24

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome, vascular type
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
ehlers-danlos syndrome, vascular type:
Inheritance autosomal dominant inheritance


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 veds individuals 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: 34
Orphanet: 59  
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
NIH Rare Diseases : 53 Vascular Ehlers-Danlos syndrome is an inheritedconnective 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 ehlers-danlos syndrome and aortic aneurysm, 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 Integrin Pathway and Phospholipase-C Pathway. The drugs Celiprolol and 4-Aminopyridine have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotypes are hypertelorism and pectus excavatum

OMIM : 57 The vascular type of Ehlers-Danlos syndrome is characterized by the joint and dermal manifestations as in other forms of the syndrome but also by proneness to spontaneous rupture of bowel and large arteries. (130050)

UniProtKB/Swiss-Prot : 75 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 in the Ehlers-Danlos Syndrome, Vascular Type family:

Ehlers-Danlos Syndrome, Vascular-Like Type

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.6 COL5A1 COL3A1
2 aortic aneurysm 30.2 ELN COL3A1
3 intracranial aneurysm 30.1 ELN COL3A1
4 varicose veins 30.0 ELN COL3A1
5 hypermobility syndrome 29.9 COL5A1 COL3A1
6 vitamin e, familial isolated deficiency of 11.1
7 myocardial infarction 10.5
8 aortic valve insufficiency 10.3
9 pneumothorax 10.3
10 acroosteolysis 10.2
11 fibromuscular dysplasia 10.2
12 cystic fibrosis 10.2
13 brittle bone disorder 10.2
14 charcot-marie-tooth disease 10.2
15 tooth disease 10.2
16 mitral valve insufficiency 10.2
17 adenocarcinoma 10.2
18 gastric adenocarcinoma 10.2
19 coronary stenosis 10.2
20 cerebrovascular disease 10.2
21 placenta disease 10.2
22 peritonitis 10.2
23 amyloidosis 10.2
24 carotid artery dissection 10.2
25 dextrocardia 10.2
26 thrombosis 10.2
27 polyarteritis nodosa, childhood-onset 10.1
28 brugada syndrome 10.1
29 loeys-dietz syndrome 10.1
30 endocarditis 10.1
31 pyelonephritis 10.1
32 cardiac tamponade 10.1
33 subclavian artery aneurysm 10.1
34 vasculitis 10.1
35 polyarteritis nodosa 10.1
36 chronic intestinal failure 10.1
37 familial abdominal aortic aneurysm 10.0 ELN COL3A1
38 pelvic organ prolapse 9.9 ELN COL3A1
39 aortic aneurysm, familial thoracic 1 9.9 ELN COL3A1
40 ehlers-danlos syndrome, classic type, 2 9.8 COL5A1 COL3A1
41 ehlers-danlos syndrome, classic type, 1 9.8 COL5A1 COL3A1
42 collagen disease 9.8 COL5A1 COL3A1
43 hypotonia 9.8
44 marfan syndrome 9.8 ELN COL3A1
45 exophthalmos 9.7
46 connective tissue disease 9.7 ELN COL5A1 COL3A1

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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Symptoms via clinical synopsis from OMIM:

57
Abdomen External Features:
inguinal hernia

Respiratory Lung:
spontaneous pneumothorax
hemoptysis

Head And Neck Eyes:
keratoconus

Skin Nails Hair Hair:
alopecia of scalp

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

Skeletal Hands:
acroosteolysis
hypermobility of distal interphalangeal joints

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

Prenatal Manifestations Delivery:
premature delivery because of cervical insufficiency or membrane fragility

Skin Nails Hair Skin:
cigarette-paper scars
fragile skin
easy bruisability
molluscoid pseudotumors
atrophic skin over ears
more
Skeletal Feet:
clubfoot
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

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

59 32 (show top 50) (show all 112)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
3 osteoarthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002758
4 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
5 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
6 sleep apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0010535
7 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
8 gingival overgrowth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000212
9 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
11 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
12 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
13 reduced consciousness/confusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0004372
14 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
15 hypokalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002900
16 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
17 transient ischemic attack 59 32 occasional (7.5%) Occasional (29-5%) HP:0002326
18 aplasia/hypoplasia of the abdominal wall musculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0010318
19 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
20 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
21 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
22 microdontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000691
23 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
24 flat face 59 32 frequent (33%) Frequent (79-30%) HP:0012368
25 high, narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002705
26 melanocytic nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000995
27 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
28 aortic dissection 59 32 hallmark (90%) Very frequent (99-80%) HP:0002647
29 arterial dissection 59 32 frequent (33%) Frequent (79-30%) HP:0005294
30 sprengel anomaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000912
31 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
32 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
33 congenital hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001374
34 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
35 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
36 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
37 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
38 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
39 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
40 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
41 mitral valve prolapse 59 32 hallmark (90%) Very frequent (99-80%) HP:0001634
42 hemoptysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002105
43 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
44 varicose veins 59 32 frequent (33%) Frequent (79-30%) HP:0002619
45 gingivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000230
46 periodontitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000704
47 macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0012733
48 bruising susceptibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000978
49 internal hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0011029
50 bladder diverticulum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000015

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


hemoptysis
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 all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celiprolol Approved, Investigational Phase 4 56980-93-9
2
4-Aminopyridine Approved Phase 4 504-24-5 1727
3 Sympathomimetics Phase 4
4 Antihypertensive Agents Phase 4,Phase 3
5 Neurotransmitter Agents Phase 4
6 Autonomic Agents Phase 4
7 Peripheral Nervous System Agents Phase 4
8 Adrenergic beta-Antagonists Phase 4
9 Adrenergic Antagonists Phase 4
10 Adrenergic Agents Phase 4
11 Anti-Arrhythmia Agents Phase 4
12 Adrenergic beta-1 Receptor Antagonists Phase 4
13 Vasodilator Agents Phase 4
14 Potassium Channel Blockers Phase 4
15
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
16
Angiotensin II Approved, Investigational Phase 3 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
17
Serine Approved, Nutraceutical Phase 3 56-45-1 5951
18 Vasoconstrictor Agents Phase 3
19 Angiotensin II Type 1 Receptor Blockers Phase 3
20
protease inhibitors Phase 3
21 HIV Protease Inhibitors Phase 3
22 Angiotensin Receptor Antagonists Phase 3
23 Angiotensinogen Phase 3
24 Serine Proteinase Inhibitors Phase 3
25 Angiotensin II Type 2 Receptor Blockers Phase 3
26 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4 celiprolol;Control
2 Short and Long Term Multiple Outcomes in Persons With Multiple Sclerosis Treated by Fampridine. Recruiting NCT02849782 Phase 4 Fampridine
3 Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome (ARCADE) Recruiting NCT02597361 Phase 3 Irbesartan;Placebo
4 Efficiency of 4-aminopyridin (Fampyra) on Gait, Vision, Cognition, Fatigue and Micturation in Patients With Multiple Sclerosis Unknown status NCT01720849 Fampyra
5 Development of a Blood Test for Marfan Syndrome Unknown status NCT02148900
6 Biomarkers in Vascular Ehlers-Danlos Syndrome Completed NCT02165085
7 Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome Not yet recruiting NCT03596437 Not Applicable
8 Pediatric Onset Multiple Sclerosis in Egyptians Completed NCT03360188
9 Non-Invasive Quantitative Imaging of Human Local Arterial Wall Elasticity Using Supersonic Shear Imaging Completed NCT01096264 Not Applicable
10 Fampridine in MS Patients: A Cognition, Fatigue, Depression and Quality of Life Analysis Active, not recruiting NCT03164018 Fampridine
11 Task-oriented Circuit Class Training in Multiple Sclerosis Subjects Completed NCT01464749 Not Applicable
12 Task-oriented Circuit Training Combined With Cerebellar tDCS in Multiple Sclerosis Subjects Completed NCT01883310 Not Applicable
13 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697

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

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

41
Skin, Heart, Bone, Eye, Placenta
Sources

Publications for Ehlers-Danlos Syndrome, Vascular Type

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Articles related to Ehlers-Danlos Syndrome, Vascular Type:

# Title Authors Year
1
A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family. ( 28183226 )
2017
2
Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene. ( 23181496 )
2012
3
A novel mutation screening system for Ehlers-Danlos Syndrome, vascular type by high-resolution melting curve analysis in combination with small amplicon genotyping using genomic DNA. ( 21219851 )
2011
4
Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type. ( 19591069 )
2009
5
Ehlers-Danlos syndrome--vascular type (ecchymotic variant): cutaneous and dermatopathologic features. ( 19278438 )
2009
6
An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management. ( 19248182 )
2009
7
EDS IV (acrogeria): new autosomal dominant and recessive types. ( 7230200 )
1980
Sources

Variations for Ehlers-Danlos Syndrome, Vascular Type

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

75 (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

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

6 (show top 50) (show all 1415)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL3A1 NM_000090.3(COL3A1): c.2437G> A (p.Gly813Ser) single nucleotide variant Pathogenic rs397509369 GRCh37 Chromosome 2, 189867069: 189867069
2 COL3A1 NM_000090.3(COL3A1): c.2437G> A (p.Gly813Ser) single nucleotide variant Pathogenic rs397509369 GRCh38 Chromosome 2, 189002343: 189002343
3 COL3A1 NM_000090.3(COL3A1): c.2356G> A (p.Gly786Arg) single nucleotide variant Pathogenic rs113485686 GRCh37 Chromosome 2, 189866280: 189866280
4 COL3A1 NM_000090.3(COL3A1): c.2356G> A (p.Gly786Arg) single nucleotide variant Pathogenic rs113485686 GRCh38 Chromosome 2, 189001554: 189001554
5 COL3A1 NM_000090.3(COL3A1): c.3149G> A (p.Gly1050Asp) single nucleotide variant Pathogenic rs121912914 GRCh37 Chromosome 2, 189871126: 189871126
6 COL3A1 NM_000090.3(COL3A1): c.3149G> A (p.Gly1050Asp) single nucleotide variant Pathogenic rs121912914 GRCh38 Chromosome 2, 189006400: 189006400
7 COL3A1 NM_000090.3(COL3A1) single nucleotide variant Pathogenic rs397509370 GRCh37 Chromosome 2, 189859321: 189859321
8 COL3A1 NM_000090.3(COL3A1) single nucleotide variant Pathogenic rs397509370 GRCh38 Chromosome 2, 188994595: 188994595
9 COL3A1 NM_000090.3(COL3A1): c.1149+1G> A (p.Gly351_Pro383del) single nucleotide variant Pathogenic rs587779443 GRCh37 Chromosome 2, 189858186: 189858186
10 COL3A1 NM_000090.3(COL3A1): c.1149+1G> A (p.Gly351_Pro383del) single nucleotide variant Pathogenic rs587779443 GRCh38 Chromosome 2, 188993460: 188993460
11 COL3A1 NM_000090.3(COL3A1): c.3093+1G> A single nucleotide variant Pathogenic rs869312034 GRCh37 Chromosome 2, 189870986: 189870986
12 COL3A1 NM_000090.3(COL3A1): c.3093+1G> A single nucleotide variant Pathogenic rs869312034 GRCh38 Chromosome 2, 189006260: 189006260
13 COL3A1 NM_000090.3(COL3A1): c.2092G> A (p.Ala698Thr) single nucleotide variant Benign rs1800255 GRCh37 Chromosome 2, 189864080: 189864080
14 COL3A1 NM_000090.3(COL3A1): c.2092G> A (p.Ala698Thr) single nucleotide variant Benign rs1800255 GRCh38 Chromosome 2, 188999354: 188999354
15 COL3A1 NM_000090.3(COL3A1): c.2553+5G> T single nucleotide variant Pathogenic rs397509371 GRCh37 Chromosome 2, 189867793: 189867793
16 COL3A1 NM_000090.3(COL3A1): c.2553+5G> T single nucleotide variant Pathogenic rs397509371 GRCh38 Chromosome 2, 189003067: 189003067
17 COL3A1 NR_037401.1(MIR3606): n.-6222_685del deletion Pathogenic GRCh37 Chromosome 2, 189854134: 189861040
18 COL3A1 NR_037401.1(MIR3606): n.-6222_685del deletion Pathogenic GRCh38 Chromosome 2, 188989408: 188996314
19 COL3A1 NM_000090.3(COL3A1): c.746G> A (p.Gly249Asp) single nucleotide variant Pathogenic rs121912927 GRCh37 Chromosome 2, 189855034: 189855034
20 COL3A1 NM_000090.3(COL3A1): c.746G> A (p.Gly249Asp) single nucleotide variant Pathogenic rs121912927 GRCh38 Chromosome 2, 188990308: 188990308
21 COL3A1 NM_000090.3(COL3A1): c.3230G> T (p.Gly1077Val) single nucleotide variant Pathogenic rs121912915 GRCh37 Chromosome 2, 189871691: 189871691
22 COL3A1 NM_000090.3(COL3A1): c.3230G> T (p.Gly1077Val) single nucleotide variant Pathogenic rs121912915 GRCh38 Chromosome 2, 189006965: 189006965
23 COL3A1 COL3A1, GLY373ARG undetermined variant Pathogenic
24 COL3A1 NM_000090.3(COL3A1): c.1655G> A (p.Gly552Glu) single nucleotide variant Pathogenic rs121912928 GRCh37 Chromosome 2, 189860897: 189860897
25 COL3A1 NM_000090.3(COL3A1): c.1655G> A (p.Gly552Glu) single nucleotide variant Pathogenic rs121912928 GRCh38 Chromosome 2, 188996171: 188996171
26 COL3A1 NM_000090.3(COL3A1): c.1761+5G> T single nucleotide variant Pathogenic rs397509372 GRCh37 Chromosome 2, 189861227: 189861227
27 COL3A1 NM_000090.3(COL3A1): c.1761+5G> T single nucleotide variant Pathogenic rs397509372 GRCh38 Chromosome 2, 188996501: 188996501
28 COL3A1 NM_000090.3(COL3A1): c.2931+1G> A (p.Gly942_Lys977del) single nucleotide variant Pathogenic rs397509373 GRCh37 Chromosome 2, 189869091: 189869091
29 COL3A1 NM_000090.3(COL3A1): c.2931+1G> A (p.Gly942_Lys977del) single nucleotide variant Pathogenic rs397509373 GRCh38 Chromosome 2, 189004365: 189004365
30 COL3A1 NM_000090.3(COL3A1): c.2490_2516del27 (p.Glu832_Gly840del) deletion Pathogenic rs397509374 GRCh37 Chromosome 2, 189867725: 189867751
31 COL3A1 NM_000090.3(COL3A1): c.2490_2516del27 (p.Glu832_Gly840del) deletion Pathogenic rs397509374 GRCh38 Chromosome 2, 189002999: 189003025
32 COL3A1 NM_000090.3(COL3A1): c.3041G> A (p.Gly1014Glu) single nucleotide variant Pathogenic rs121912916 GRCh37 Chromosome 2, 189870933: 189870933
33 COL3A1 NM_000090.3(COL3A1): c.3041G> A (p.Gly1014Glu) single nucleotide variant Pathogenic rs121912916 GRCh38 Chromosome 2, 189006207: 189006207
34 COL3A1 NM_000090.3(COL3A1): c.3554G> A (p.Gly1185Asp) single nucleotide variant Likely pathogenic rs121912917 GRCh37 Chromosome 2, 189873678: 189873678
35 COL3A1 NM_000090.3(COL3A1): c.3554G> A (p.Gly1185Asp) single nucleotide variant Likely pathogenic rs121912917 GRCh38 Chromosome 2, 189008952: 189008952
36 COL3A1 NM_000090.3(COL3A1): c.3518G> A (p.Gly1173Glu) single nucleotide variant Pathogenic rs121912918 GRCh37 Chromosome 2, 189872861: 189872861
37 COL3A1 NM_000090.3(COL3A1): c.3518G> A (p.Gly1173Glu) single nucleotide variant Pathogenic rs121912918 GRCh38 Chromosome 2, 189008135: 189008135
38 COL3A1 NM_000090.3(COL3A1): c.3563G> A (p.Gly1188Glu) single nucleotide variant Pathogenic rs112456072 GRCh37 Chromosome 2, 189873687: 189873687
39 COL3A1 NM_000090.3(COL3A1): c.3563G> A (p.Gly1188Glu) single nucleotide variant Pathogenic rs112456072 GRCh38 Chromosome 2, 189008961: 189008961
40 COL3A1 NM_000090.3(COL3A1): c.406G> C (p.Gly136Arg) single nucleotide variant Pathogenic rs387906557 GRCh37 Chromosome 2, 189850463: 189850463
41 COL3A1 NM_000090.3(COL3A1): c.406G> C (p.Gly136Arg) single nucleotide variant Pathogenic rs387906557 GRCh38 Chromosome 2, 188985737: 188985737
42 COL3A1 NM_000090.3(COL3A1): c.582+6T> C single nucleotide variant Pathogenic rs397509375 GRCh37 Chromosome 2, 189852866: 189852866
43 COL3A1 NM_000090.3(COL3A1): c.582+6T> C single nucleotide variant Pathogenic rs397509375 GRCh38 Chromosome 2, 188988140: 188988140
44 COL3A1 NM_000090.3(COL3A1): c.1869+5G> A single nucleotide variant Pathogenic rs397509376 GRCh37 Chromosome 2, 189862120: 189862120
45 COL3A1 NM_000090.3(COL3A1): c.1869+5G> A single nucleotide variant Pathogenic rs397509376 GRCh38 Chromosome 2, 188997394: 188997394
46 COL3A1 NM_000090.3(COL3A1): c.1997G> A (p.Gly666Asp) single nucleotide variant Pathogenic rs121912921 GRCh37 Chromosome 2, 189863419: 189863419
47 COL3A1 NM_000090.3(COL3A1): c.1997G> A (p.Gly666Asp) single nucleotide variant Pathogenic rs121912921 GRCh38 Chromosome 2, 188998693: 188998693
48 COL3A1 NM_000090.3(COL3A1): c.2879G> T (p.Gly960Val) single nucleotide variant Pathogenic rs121912922 GRCh37 Chromosome 2, 189869038: 189869038
49 COL3A1 NM_000090.3(COL3A1): c.2879G> T (p.Gly960Val) single nucleotide variant Pathogenic rs121912922 GRCh38 Chromosome 2, 189004312: 189004312
50 COL3A1 NM_000090.3(COL3A1): c.1744G> A (p.Gly582Ser) single nucleotide variant Pathogenic rs121912923 GRCh37 Chromosome 2, 189861205: 189861205
Sources

Expression for Ehlers-Danlos Syndrome, Vascular Type

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

Pathways for Ehlers-Danlos Syndrome, Vascular Type

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

# Super pathways Score Top Affiliating Genes
1
Integrin Pathway 64
Show member pathways
 12.72 COL3A1 COL5A1 ELN
2
Phospholipase-C Pathway 64
Show member pathways
 12.44 COL3A1 COL5A1 ELN
3
Collagen chain trimerization 66
Show member pathways
 12.05 COL3A1 COL5A1 ELN
4
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 11.6 COL3A1 COL5A1 ELN
5
Degradation of the extracellular matrix 66
Show member pathways
 11.45 COL3A1 COL5A1 ELN
6
miRNA targets in ECM and membrane receptors 1
10.59 COL3A1 COL5A1
7
G-protein signaling_Rap2B regulation pathway 22
10.34 COL3A1 COL5A1 ELN
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 region GO:0005576 9.5 COL3A1 COL5A1 ELN
2 endoplasmic reticulum lumen GO:0005788 9.26 COL3A1 COL5A1
3 collagen trimer GO:0005581 9.16 COL3A1 COL5A1
4 extracellular matrix GO:0031012 9.13 COL3A1 COL5A1 ELN
5 collagen-containing extracellular matrix GO:0062023 8.8 COL3A1 COL5A1 ELN

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

# Name GO ID Score Top Affiliating Genes
1 blood vessel development GO:0001568 9.32 COL3A1 COL5A1
2 collagen fibril organization GO:0030199 9.26 COL3A1 COL5A1
3 skin development GO:0043588 9.16 COL3A1 COL5A1
4 supramolecular fiber organization GO:0097435 8.96 COL3A1 COL5A1
5 extracellular matrix organization GO:0030198 8.8 COL3A1 COL5A1 ELN

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 9.26 COL3A1 COL5A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL3A1 COL5A1
3 platelet-derived growth factor binding GO:0048407 8.96 COL3A1 COL5A1
4 extracellular matrix structural constituent GO:0005201 8.8 COL3A1 COL5A1 ELN
Sources

Sources for Ehlers-Danlos Syndrome, Vascular Type

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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