EDSVASC
MCID: EHL052
MIFTS: 56

Ehlers-Danlos Syndrome, Vascular Type (EDSVASC)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Vascular Type

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

Name: Ehlers-Danlos Syndrome, Vascular Type 58 25 54 60 76
Eds Iv 58 54 60 76 56
Ehlers-Danlos Syndrome, Type 4 30 6 41
Sack-Barabas Syndrome 54 60 76
Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant 58 76
Vascular Ehlers-Danlos Syndrome 25 54
Ehlers-Danlos Syndrome, Type Iv 13 74
Ehlers-Danlos Syndrome Type Iv 54 60
Ehlers-Danlos Syndrome Type 4 54 60
Eds Type 4 54 60
Edsvasc 58 76
Eds4 58 76
Veds 25 54
Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant; Eds4 58
Autosomal Dominant Type Iv Ehlers-Danlos Syndrome 12
Ehlers-Danlos Syndrome, Sack-Barabas Type 58
Ehlers Danlos Syndrome, Sack-Barabas Type 54
Ehlers-Danlos Syndrome, Ecchymotic Type 58
Ehlers Danlos Syndrome, Ecchymotic Type 54
Ehlers-Danlos Syndrome Ecchymotic Type 76
Ehlers-Danlos Syndrome, Type 4 Variant 30
Ehlers-Danlos Syndrome, Arterial Type 58
Ehlers Danlos Syndrome, Arterial Type 54
Ehlers-Danlos Syndrome Arterial Type 76
Ehlers-Danlos Syndrome Vascular Type 38
Ehlers-Danlos Syndrome 4 76
Vascular Eds 54
Eds Type Iv 25

Characteristics:

Orphanet epidemiological data:

60
ehlers-danlos syndrome, vascular type
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
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:



Summaries for Ehlers-Danlos Syndrome, Vascular Type

NIH Rare Diseases : 54 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 Relaxin signaling pathway and Integrin 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 : 58 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 : 76 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

Related Diseases for Ehlers-Danlos Syndrome, Vascular Type

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 47)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.5 COL3A1 COL5A1
2 aortic aneurysm 30.2 COL3A1 ELN
3 intracranial aneurysm 30.0 COL3A1 ELN
4 varicose veins 29.9 COL3A1 ELN
5 hypermobility syndrome 29.8 COL3A1 COL5A1
6 vitamin e, familial isolated deficiency of 11.1
7 myocardial infarction 10.5
8 pneumothorax 10.4
9 impotence 10.3
10 acroosteolysis 10.2
11 cystic fibrosis 10.2
12 brittle bone disorder 10.2
13 charcot-marie-tooth disease 10.2
14 tooth disease 10.2
15 mitral valve insufficiency 10.2
16 adenocarcinoma 10.2
17 gastric adenocarcinoma 10.2
18 coronary stenosis 10.2
19 cerebrovascular disease 10.2
20 peritonitis 10.2
21 amyloidosis 10.2
22 carotid artery dissection 10.2
23 dextrocardia 10.2
24 thrombosis 10.2
25 fibromuscular dysplasia 10.1
26 pneumothorax, primary spontaneous 10.1
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 intestinal perforation 10.1
34 subclavian artery aneurysm 10.1
35 vasculitis 10.1
36 polyarteritis nodosa 10.1
37 chronic intestinal failure 10.1
38 familial abdominal aortic aneurysm 9.9 ELN COL3A1
39 pelvic organ prolapse 9.9 COL3A1 ELN
40 aortic aneurysm, familial thoracic 1 9.9 COL3A1 ELN
41 hypotonia 9.8
42 exophthalmos 9.7
43 ehlers-danlos syndrome, classic type, 2 9.7 COL5A1 COL3A1
44 ehlers-danlos syndrome, classic type, 1 9.7 COL3A1 COL5A1
45 collagen disease 9.7 COL3A1 COL5A1
46 marfan syndrome 9.6 COL3A1 ELN
47 connective tissue disease 9.5 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

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Vascular Type

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

60 33 (show top 50) (show all 112)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
7 hypokalemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002900
8 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
9 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
10 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
11 melanocytic nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000995
12 aortic dissection 60 33 hallmark (90%) Very frequent (99-80%) HP:0002647
13 sprengel anomaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000912
14 protruding ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000411
15 mitral valve prolapse 60 33 hallmark (90%) Very frequent (99-80%) HP:0001634
16 telecanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000506
17 macule 60 33 hallmark (90%) Very frequent (99-80%) HP:0012733
18 bruising susceptibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000978
19 internal hemorrhage 60 33 hallmark (90%) Very frequent (99-80%) HP:0011029
20 bladder diverticulum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000015
21 aplasia/hypoplasia of the eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0100840
22 peripheral arteriovenous fistula 60 33 hallmark (90%) Very frequent (99-80%) HP:0100784
23 gastrointestinal infarctions 60 33 hallmark (90%) Very frequent (99-80%) HP:0005244
24 aplasia/hypoplasia of the earlobes 60 33 hallmark (90%) Very frequent (99-80%) HP:0009906
25 pneumothorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0002107
26 dermal translucency 60 33 hallmark (90%) Very frequent (99-80%) HP:0010648
27 abnormal eyelash morphology 33 hallmark (90%) HP:0000499
28 abnormal oral frenulum morphology 33 hallmark (90%) HP:0000190
29 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
30 flat face 60 33 frequent (33%) Frequent (79-30%) HP:0012368
31 arterial dissection 60 33 frequent (33%) Frequent (79-30%) HP:0005294
32 talipes equinovarus 60 33 frequent (33%) Frequent (79-30%) HP:0001762
33 telangiectasia of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0100585
34 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501
35 varicose veins 60 33 frequent (33%) Frequent (79-30%) HP:0002619
36 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
37 thin vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0000233
38 premature birth 60 33 frequent (33%) Frequent (79-30%) HP:0001622
39 arteriovenous fistulas of celiac and mesenteric vessels 60 33 frequent (33%) Frequent (79-30%) HP:0002642
40 osteoarthritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002758
41 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
42 sleep apnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0010535
43 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
44 gingival overgrowth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000212
45 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
46 reduced consciousness/confusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0004372
47 subcutaneous nodule 60 33 occasional (7.5%) Occasional (29-5%) HP:0001482
48 transient ischemic attack 60 33 occasional (7.5%) Occasional (29-5%) HP:0002326
49 aplasia/hypoplasia of the abdominal wall musculature 60 33 occasional (7.5%) Occasional (29-5%) HP:0010318
50 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692

Symptoms via clinical synopsis from OMIM:

58
Abdomen External Features:
inguinal hernia

Cardiovascular Heart:
mitral valve prolapse

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

Respiratory Lung:
spontaneous pneumothorax
hemoptysis

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

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


hemoptysis

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 27)
# 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 Adrenergic Antagonists Phase 4
4 Vasodilator Agents Phase 4
5 Adrenergic beta-Antagonists Phase 4
6 Peripheral Nervous System Agents Phase 4
7 Anti-Arrhythmia Agents Phase 4
8 Adrenergic beta-1 Receptor Antagonists Phase 4
9 Autonomic Agents Phase 4
10 Neurotransmitter Agents Phase 4
11 Sympathomimetics Phase 4
12 Adrenergic Agents Phase 4
13 Antihypertensive Agents Phase 4,Phase 3
14 Potassium Channel Blockers Phase 4
15
Angiotensin II Approved, Investigational Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
16
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
17
Serine Approved, Nutraceutical Phase 3 56-45-1 5951
18
protease inhibitors Phase 3
19 Vasoconstrictor Agents Phase 3
20 Angiotensin II Type 1 Receptor Blockers Phase 3
21 Angiotensinogen Phase 3
22 Angiotensin Receptor Antagonists Phase 3
23 HIV Protease Inhibitors Phase 3
24 Angiotensin II Type 2 Receptor Blockers Phase 3
25 Giapreza Phase 3
26 Serine Proteinase Inhibitors Phase 3
27 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 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 Completed 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

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 30 COL3A1
2 Ehlers-Danlos Syndrome, Type 4 Variant 30

Anatomical Context for Ehlers-Danlos Syndrome, Vascular Type

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

42
Skin, Heart, Bone, Testes, Eye

Publications for Ehlers-Danlos Syndrome, Vascular Type

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

Variations for Ehlers-Danlos Syndrome, Vascular Type

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

76 (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 1409)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL3A1 NM_000090.3(COL3A1): c.505C> T (p.Leu169Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs111391222 GRCh37 Chromosome 2, 189851842: 189851842
2 COL3A1 NM_000090.3(COL3A1): c.505C> T (p.Leu169Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs111391222 GRCh38 Chromosome 2, 188987116: 188987116
3 COL3A1 NM_000090.3(COL3A1): c.812G> A (p.Arg271Gln) single nucleotide variant Benign/Likely benign rs112185887 GRCh37 Chromosome 2, 189855743: 189855743
4 COL3A1 NM_000090.3(COL3A1): c.812G> A (p.Arg271Gln) single nucleotide variant Benign/Likely benign rs112185887 GRCh38 Chromosome 2, 188991017: 188991017
5 COL3A1 NM_000090.3(COL3A1): c.1550C> T (p.Pro517Leu) single nucleotide variant Likely benign rs142085247 GRCh37 Chromosome 2, 189860458: 189860458
6 COL3A1 NM_000090.3(COL3A1): c.1550C> T (p.Pro517Leu) single nucleotide variant Likely benign rs142085247 GRCh38 Chromosome 2, 188995732: 188995732
7 COL3A1 NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs111840783 GRCh37 Chromosome 2, 189875018: 189875018
8 COL3A1 NM_000090.3(COL3A1): c.3938A> G (p.Lys1313Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs111840783 GRCh38 Chromosome 2, 189010292: 189010292
9 COL3A1 NM_000090.3(COL3A1): c.3326G> A (p.Arg1109Gln) single nucleotide variant Uncertain significance rs730880062 GRCh37 Chromosome 2, 189872296: 189872296
10 COL3A1 NM_000090.3(COL3A1): c.3326G> A (p.Arg1109Gln) single nucleotide variant Uncertain significance rs730880062 GRCh38 Chromosome 2, 189007570: 189007570
11 COL3A1 NM_000090.3(COL3A1): c.1348-4dupT duplication Conflicting interpretations of pathogenicity rs758567906 GRCh37 Chromosome 2, 189859446: 189859446
12 COL3A1 NM_000090.3(COL3A1): c.1348-4dupT duplication Conflicting interpretations of pathogenicity rs758567906 GRCh38 Chromosome 2, 188994720: 188994720
13 COL3A1 NM_000090.3(COL3A1): c.1815+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs146652498 GRCh37 Chromosome 2, 189861949: 189861949
14 COL3A1 NM_000090.3(COL3A1): c.1815+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs146652498 GRCh38 Chromosome 2, 188997223: 188997223
15 COL3A1 NM_000090.3(COL3A1): c.2550T> C (p.Pro850=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727586 GRCh37 Chromosome 2, 189867785: 189867785
16 COL3A1 NM_000090.3(COL3A1): c.2550T> C (p.Pro850=) single nucleotide variant Conflicting interpretations of pathogenicity rs794727586 GRCh38 Chromosome 2, 189003059: 189003059
17 COL3A1 NM_000090.3(COL3A1): c.3133G> A (p.Ala1045Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149722210 GRCh37 Chromosome 2, 189871110: 189871110
18 COL3A1 NM_000090.3(COL3A1): c.3133G> A (p.Ala1045Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149722210 GRCh38 Chromosome 2, 189006384: 189006384
19 COL3A1 NM_000090.3(COL3A1): c.4086C> T (p.Ser1362=) single nucleotide variant Conflicting interpretations of pathogenicity rs779774302 GRCh37 Chromosome 2, 189875448: 189875448
20 COL3A1 NM_000090.3(COL3A1): c.4086C> T (p.Ser1362=) single nucleotide variant Conflicting interpretations of pathogenicity rs779774302 GRCh38 Chromosome 2, 189010722: 189010722
21 COL3A1 NM_000090.3(COL3A1): c.101A> G (p.His34Arg) single nucleotide variant Uncertain significance rs752110396 GRCh37 Chromosome 2, 189849507: 189849507
22 COL3A1 NM_000090.3(COL3A1): c.101A> G (p.His34Arg) single nucleotide variant Uncertain significance rs752110396 GRCh38 Chromosome 2, 188984781: 188984781
23 COL3A1 NM_000090.3(COL3A1): c.114C> G (p.Ser38=) single nucleotide variant Benign/Likely benign rs141241764 GRCh37 Chromosome 2, 189849520: 189849520
24 COL3A1 NM_000090.3(COL3A1): c.114C> G (p.Ser38=) single nucleotide variant Benign/Likely benign rs141241764 GRCh38 Chromosome 2, 188984794: 188984794
25 COL3A1 NM_000090.3(COL3A1): c.119C> T (p.Ala40Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201380807 GRCh37 Chromosome 2, 189849525: 189849525
26 COL3A1 NM_000090.3(COL3A1): c.119C> T (p.Ala40Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201380807 GRCh38 Chromosome 2, 188984799: 188984799
27 COL3A1 NM_000090.3(COL3A1): c.130G> A (p.Val44Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs79632685 GRCh37 Chromosome 2, 189849536: 189849536
28 COL3A1 NM_000090.3(COL3A1): c.130G> A (p.Val44Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs79632685 GRCh38 Chromosome 2, 188984810: 188984810
29 COL3A1 NM_000090.3(COL3A1): c.203A> G (p.Asp68Gly) single nucleotide variant Uncertain significance rs376603102 GRCh37 Chromosome 2, 189849609: 189849609
30 COL3A1 NM_000090.3(COL3A1): c.203A> G (p.Asp68Gly) single nucleotide variant Uncertain significance rs376603102 GRCh38 Chromosome 2, 188984883: 188984883
31 COL3A1 NM_000090.3(COL3A1): c.560C> T (p.Thr187Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs371583734 GRCh37 Chromosome 2, 189852838: 189852838
32 COL3A1 NM_000090.3(COL3A1): c.560C> T (p.Thr187Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs371583734 GRCh38 Chromosome 2, 188988112: 188988112
33 COL3A1 NM_000090.3(COL3A1): c.1051-13G> A single nucleotide variant Benign/Likely benign rs371934572 GRCh37 Chromosome 2, 189858074: 189858074
34 COL3A1 NM_000090.3(COL3A1): c.1051-13G> A single nucleotide variant Benign/Likely benign rs371934572 GRCh38 Chromosome 2, 188993348: 188993348
35 COL3A1 NM_000090.3(COL3A1): c.1165A> T (p.Asn389Tyr) single nucleotide variant Uncertain significance rs200394946 GRCh37 Chromosome 2, 189858779: 189858779
36 COL3A1 NM_000090.3(COL3A1): c.1165A> T (p.Asn389Tyr) single nucleotide variant Uncertain significance rs200394946 GRCh38 Chromosome 2, 188994053: 188994053
37 COL3A1 NM_000090.3(COL3A1): c.1241G> T (p.Gly414Val) single nucleotide variant Likely pathogenic rs794728044 GRCh37 Chromosome 2, 189859006: 189859006
38 COL3A1 NM_000090.3(COL3A1): c.1241G> T (p.Gly414Val) single nucleotide variant Likely pathogenic rs794728044 GRCh38 Chromosome 2, 188994280: 188994280
39 COL3A1 NM_000090.3(COL3A1): c.1348-4delT deletion Conflicting interpretations of pathogenicity rs758567906 GRCh37 Chromosome 2, 189859446: 189859446
40 COL3A1 NM_000090.3(COL3A1): c.1348-4delT deletion Conflicting interpretations of pathogenicity rs758567906 GRCh38 Chromosome 2, 188994720: 188994720
41 COL3A1 NM_000090.3(COL3A1): c.1659T> A (p.Pro553=) single nucleotide variant Benign rs41263751 GRCh37 Chromosome 2, 189860901: 189860901
42 COL3A1 NM_000090.3(COL3A1): c.1659T> A (p.Pro553=) single nucleotide variant Benign rs41263751 GRCh38 Chromosome 2, 188996175: 188996175
43 COL3A1 NM_000090.3(COL3A1): c.2002C> A (p.Pro668Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801183 GRCh38 Chromosome 2, 188998698: 188998698
44 COL3A1 NM_000090.3(COL3A1): c.2002C> A (p.Pro668Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1801183 GRCh37 Chromosome 2, 189863424: 189863424
45 COL3A1 NM_000090.3(COL3A1): c.2002C> T (p.Pro668Ser) single nucleotide variant Benign/Likely benign rs1801183 GRCh37 Chromosome 2, 189863424: 189863424
46 COL3A1 NM_000090.3(COL3A1): c.2002C> T (p.Pro668Ser) single nucleotide variant Benign/Likely benign rs1801183 GRCh38 Chromosome 2, 188998698: 188998698
47 COL3A1 NM_000090.3(COL3A1): c.2022+5T> C single nucleotide variant Benign rs41263765 GRCh38 Chromosome 2, 188998723: 188998723
48 COL3A1 NM_000090.3(COL3A1): c.2022+5T> C single nucleotide variant Benign rs41263765 GRCh37 Chromosome 2, 189863449: 189863449
49 COL3A1 NM_000090.3(COL3A1): c.2056C> G (p.Pro686Ala) single nucleotide variant Benign/Likely benign rs41263775 GRCh37 Chromosome 2, 189864044: 189864044
50 COL3A1 NM_000090.3(COL3A1): c.2056C> G (p.Pro686Ala) single nucleotide variant Benign/Likely benign rs41263775 GRCh38 Chromosome 2, 188999318: 188999318

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 KEGG:

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# Name Kegg Source Accession
1 Relaxin signaling pathway hsa04926

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 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 for Ehlers-Danlos Syndrome, Vascular Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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