EDSVASC
MCID: EHL052
MIFTS: 58

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

Characteristics:

Orphanet epidemiological data:

60
vascular ehlers-danlos syndrome
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


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:

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 57)
# 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 11.3
7 myocardial infarction 10.5
8 pneumothorax 10.4
9 aortic valve insufficiency 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 autosomal recessive 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 col1a1/2-related osteogenesis imperfecta 10.2
27 bowenoid papulosis 10.2
28 periodontal ehlers-danlos syndrome 10.2
29 thrombosis 10.2
30 atrial standstill 1 10.1
31 elastosis perforans serpiginosa 10.1
32 fibromuscular dysplasia 10.1
33 cryptorchidism, unilateral or bilateral 10.1
34 loeys-dietz syndrome 1 10.1
35 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
36 brugada syndrome 10.1
37 loeys-dietz syndrome 10.1
38 endocarditis 10.1
39 pyelonephritis 10.1
40 cardiac tamponade 10.1
41 intestinal perforation 10.1
42 subclavian artery aneurysm 10.1
43 vasculitis 10.1
44 polyarteritis nodosa 10.1
45 hypermobile ehlers-danlos syndrome 10.1
46 chronic intestinal failure 10.1
47 familial abdominal aortic aneurysm 9.9 COL3A1 ELN
48 pelvic organ prolapse 9.9 COL3A1 ELN
49 aortic aneurysm, familial thoracic 1 9.9 COL3A1 ELN
50 hypotonia 9.8

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 abnormal oral frenulum morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0000190
25 aplasia/hypoplasia of the earlobes 60 33 hallmark (90%) Very frequent (99-80%) HP:0009906
26 pneumothorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0002107
27 dermal translucency 60 33 hallmark (90%) Very frequent (99-80%) HP:0010648
28 abnormal eyelash morphology 33 hallmark (90%) HP:0000499
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 Agents Phase 4
4 Peripheral Nervous System Agents Phase 4
5 Vasodilator Agents Phase 4
6 Anti-Arrhythmia Agents Phase 4
7 Neurotransmitter Agents Phase 4
8 Antihypertensive Agents Phase 4,Phase 3
9 Adrenergic beta-1 Receptor Antagonists Phase 4
10 Adrenergic beta-Antagonists Phase 4
11 Adrenergic Antagonists Phase 4
12 Autonomic Agents Phase 4
13 Sympathomimetics Phase 4
14 Potassium Channel Blockers Phase 4
15
Angiotensin II Approved, Investigational Phase 3 11128-99-7, 68521-88-0, 4474-91-3 172198
16
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
17
Serine Approved, Nutraceutical Phase 3 56-45-1 5951
18 Angiotensin II Type 2 Receptor Blockers Phase 3
19
protease inhibitors Phase 3
20 Angiotensin Receptor Antagonists Phase 3
21 Giapreza Phase 3
22 HIV Protease Inhibitors Phase 3
23 Angiotensinogen Phase 3
24 Vasoconstrictor Agents Phase 3
25 Angiotensin II Type 1 Receptor Blockers 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, Eye, Testes, Placenta

Publications for Ehlers-Danlos Syndrome, Vascular Type

Articles related to Ehlers-Danlos Syndrome, Vascular Type:

(show top 50) (show all 59)
# Title Authors Year
1
A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family. ( 28183226 )
2017
2
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
3
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
4
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. ( 24882528 )
2014
5
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). ( 25173340 )
2014
6
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. ( 25355838 )
2014
7
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
8
Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene. ( 23181496 )
2012
9
Evaluation of the adolescent or adult with some features of Marfan syndrome. ( 22237449 )
2012
10
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
11
Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type. ( 19591069 )
2009
12
Ehlers-Danlos syndrome--vascular type (ecchymotic variant): cutaneous and dermatopathologic features. ( 19278438 )
2009
13
An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management. ( 19248182 )
2009
14
Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. ( 12694234 )
2003
15
Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism. ( 12786757 )
2003
16
Ehlers-Danlos syndrome type IV. ( 10928898 )
2000
17
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. ( 10706896 )
2000
18
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. ( 10051163 )
1999
19
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. ( 8990011 )
1997
20
Recurrent COL3A1 mutation results in EDS IV or familial aneurysms. ( 9143932 )
1997
21
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. ( 9147870 )
1996
22
A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV. ( 8664902 )
1996
23
Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV. ( 7749417 )
1995
24
Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV. ( 7581395 )
1995
25
A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. ( 8320698 )
1993
26
Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms. ( 8514866 )
1993
27
Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV. ( 8477261 )
1993
28
Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV. ( 8098182 )
1993
29
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. ( 1352273 )
1992
30
A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis. ( 1357232 )
1992
31
A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV. ( 1370809 )
1992
32
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. ( 1496983 )
1992
33
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV. ( 1619632 )
1992
34
Dissecting aortic aneurysm as a complication of generalized fibromuscular dysplasia. ( 1568754 )
1992
35
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. ( 1672129 )
1991
36
Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. ( 1757960 )
1991
37
Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV. ( 1895316 )
1991
38
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. ( 1998337 )
1991
39
Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say. ( 1939638 )
1991
40
Type III collagen deficient EDS IV producing muscular hypotonia with abnormal muscle fibroblasts. ( 1775221 )
1991
41
A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. ( 2145268 )
1990
42
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. ( 2349939 )
1990
43
Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others. ( 2365710 )
1990
44
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. ( 2243125 )
1990
45
Angiographic abnormalities mimicking fibromuscular dysplasia in a patient with Ehlers-Danlos syndrome, type IV. ( 2771024 )
1989
46
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV. ( 2808425 )
1989
47
Ehlers-Danlos syndrome type IV (EDS IV) as model of a defective biopolymer composite material. ( 2743768 )
1989
48
Obstetrical problems in patients with Ehlers-Danlos syndrome type IV; a case report. ( 2583342 )
1989
49
A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV. ( 2492273 )
1989
50
Vascular abnormalities in the neck associated with intracranial aneurysms. ( 2710295 )
1989

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 1421)
# 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_2516del (p.Glu832_Gly840del) deletion Pathogenic rs397509374 GRCh37 Chromosome 2, 189867725: 189867751
31 COL3A1 NM_000090.3(COL3A1): c.2490_2516del (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

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:

38
# 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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