MCID: CLS054
MIFTS: 49

Classic Ehlers-Danlos Syndrome

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Classic Ehlers-Danlos Syndrome

MalaCards integrated aliases for Classic Ehlers-Danlos Syndrome:

Name: Classic Ehlers-Danlos Syndrome 25 54
Ehlers-Danlos Syndrome, Classic Type 25 54 30 6
Classical Ehlers-Danlos Syndrome 54 60
Eds, Classic Type 25
Classical Eds 60
Ceds 60

Characteristics:

Orphanet epidemiological data:

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

GeneReviews:

25
Penetrance It is unknown whether penetrance is 100% or reduced. it is presumed to be the same for males and females...

Classifications:



Summaries for Classic Ehlers-Danlos Syndrome

NIH Rare Diseases : 54 Classical Ehlers-Danlos syndrome(EDS) is a genetic connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include skin hyperextensibility, abnormal wound healing, and joint hypermobility. More than 90% of people with classical EDS have mutations in COL5A1 or COL5A2, two genes which encode type V collagen. In rare cases, mutations in the gene encoding type I collagen, COL1A1 gene, may be found. The condition is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated symptoms.

MalaCards based summary : Classic Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome, classic type, is related to caspase 8 deficiency and ehlers-danlos syndrome, classic type, 2. An important gene associated with Classic Ehlers-Danlos Syndrome is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include skin, bone and tongue, and related phenotypes are hypertension and hypotension

GeneReviews: NBK1244

Related Diseases for Classic Ehlers-Danlos Syndrome

Diseases in the Classic Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Classic Type, 1 Ehlers-Danlos Syndrome, Classic Type, 2
Ehlers-Danlos Syndrome, Classic-Like Ehlers-Danlos Syndrome, Classic-Like, 2

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 caspase 8 deficiency 32.1 COL5A1 COL5A2
2 ehlers-danlos syndrome, classic type, 2 32.0 COL1A1 COL5A1 COL5A2
3 ehlers-danlos syndrome, classic type, 1 31.5 COL1A1 COL1A2 COL5A1 COL5A2
4 hypermobility syndrome 30.1 COL5A1 TNXB
5 ehlers-danlos syndrome 29.8 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
6 vascular-like classical ehlers-danlos syndrome 12.5
7 cranioectodermal dysplasia 1 11.9
8 camurati-engelmann disease 11.9
9 cutis laxa, autosomal dominant 1 11.4
10 cutis laxa, autosomal recessive, type ia 11.4
11 ehlers-danlos syndrome, classic-like 11.4
12 cutis laxa, autosomal recessive, type ic 11.4
13 ribbing disease 11.3
14 cranioectodermal dysplasia 2 11.1
15 cranioectodermal dysplasia 3 11.1
16 cranioectodermal dysplasia 4 11.1
17 von willebrand disease, type 1 10.2
18 von willebrand's disease 10.2
19 dilated cardiomyopathy 10.2
20 aortic valve insufficiency 10.2
21 hypermobile ehlers-danlos syndrome 10.2
22 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A1 COL1A2
23 high bone mass osteogenesis imperfecta 10.0 COL1A1 COL1A2
24 osteogenesis imperfecta, type vii 10.0 COL1A1 COL1A2
25 osteogenesis imperfecta, type viii 10.0 COL1A1 COL1A2
26 osteogenesis imperfecta, type v 10.0 COL1A1 COL1A2
27 scleroderma, familial progressive 10.0 COL1A1 COL1A2
28 caffey disease 10.0 COL1A1 COL1A2
29 osteogenesis imperfecta, type iv 9.9 COL1A1 COL1A2
30 osteogenesis imperfecta, type i 9.9 COL1A1 COL1A2
31 otosclerosis 9.9 COL1A1 COL1A2
32 dentinogenesis imperfecta 9.9 COL1A1 COL1A2
33 spondyloepiphyseal dysplasia congenita 9.9 COL1A1 COL1A2
34 osteogenesis imperfecta, type iii 9.9 COL1A1 COL1A2
35 osteogenesis imperfecta, type ii 9.9 COL1A1 COL1A2
36 bruck syndrome 9.8 COL1A1 COL1A2
37 bone development disease 9.8 COL1A1 COL1A2
38 pelvic organ prolapse 9.8 COL1A1 TNXB
39 brittle bone disorder 9.7 COL1A1 COL1A2
40 larsen-like syndrome 9.7 COL1A1 COL1A2 COL5A2
41 marfan syndrome 9.7 COL1A2 COL5A2
42 connective tissue disease 9.3 COL1A1 COL1A2 COL5A1 TNXB
43 collagen disease 9.0 COL1A1 COL1A2 COL5A1 COL5A2 TNXB

Graphical network of the top 20 diseases related to Classic Ehlers-Danlos Syndrome:



Diseases related to Classic Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Classic Ehlers-Danlos Syndrome

Human phenotypes related to Classic Ehlers-Danlos Syndrome:

60 33 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 60 33 hallmark (90%) Very frequent (99-80%) HP:0000822
2 hypotension 60 33 hallmark (90%) Very frequent (99-80%) HP:0002615
3 hyperlordosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003307
4 pectus carinatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000768
5 emphysema 60 33 hallmark (90%) Very frequent (99-80%) HP:0002097
6 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
7 abnormal nasal morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005105
8 high, narrow palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002705
9 atypical scarring of skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000987
10 arterial dissection 60 33 hallmark (90%) Very frequent (99-80%) HP:0005294
11 glaucoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000501
12 striae distensae 60 33 hallmark (90%) Very frequent (99-80%) HP:0001065
13 arachnodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001166
14 asthma 60 33 hallmark (90%) Very frequent (99-80%) HP:0002099
15 eczema 60 33 hallmark (90%) Very frequent (99-80%) HP:0000964
16 petechiae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000967
17 spina bifida occulta 60 33 hallmark (90%) Very frequent (99-80%) HP:0003298
18 triangular face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000325
19 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
20 abnormality of the tongue 60 33 hallmark (90%) Very frequent (99-80%) HP:0000157
21 abnormality of the gingiva 60 33 hallmark (90%) Very frequent (99-80%) HP:0000168
22 shagreen patch 60 33 hallmark (90%) Very frequent (99-80%) HP:0009721
23 malar prominence 60 33 hallmark (90%) Very frequent (99-80%) HP:0010620
24 joint dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0001373
25 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
26 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
27 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
28 acrocyanosis 60 33 frequent (33%) Frequent (79-30%) HP:0001063
29 aplasia/hypoplasia of the abdominal wall musculature 60 33 frequent (33%) Frequent (79-30%) HP:0010318
30 thin skin 60 33 frequent (33%) Frequent (79-30%) HP:0000963
31 myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003326
32 mitral valve prolapse 60 33 frequent (33%) Frequent (79-30%) HP:0001634
33 hypoplasia of the ear cartilage 60 33 frequent (33%) Frequent (79-30%) HP:0100720
34 narrow face 60 33 frequent (33%) Frequent (79-30%) HP:0000275
35 erythema 60 33 frequent (33%) Frequent (79-30%) HP:0010783
36 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%) HP:0000978
37 venous insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0005293
38 hiatus hernia 60 33 frequent (33%) Frequent (79-30%) HP:0002036
39 premature birth 60 33 frequent (33%) Frequent (79-30%) HP:0001622
40 tricuspid valve prolapse 60 33 frequent (33%) Frequent (79-30%) HP:0001704
41 osteoarthritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002758
42 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
43 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
44 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
45 dental malocclusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0000689
46 open bite 60 33 occasional (7.5%) Occasional (29-5%) HP:0010807
47 wide nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000431
48 pes planus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001763
49 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
50 reduced consciousness/confusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0004372

MGI Mouse Phenotypes related to Classic Ehlers-Danlos Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
2 integument MP:0010771 9.55 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
3 mortality/aging MP:0010768 9.35 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
4 normal MP:0002873 8.92 COL1A1 COL1A2 COL5A1 COL5A2

Drugs & Therapeutics for Classic Ehlers-Danlos Syndrome

Search Clinical Trials , NIH Clinical Center for Classic Ehlers-Danlos Syndrome

Genetic Tests for Classic Ehlers-Danlos Syndrome

Genetic tests related to Classic Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Classic Type 30 COL5A1

Anatomical Context for Classic Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Classic Ehlers-Danlos Syndrome:

42
Skin, Bone, Tongue, Heart, Skeletal Muscle

Publications for Classic Ehlers-Danlos Syndrome

Articles related to Classic Ehlers-Danlos Syndrome:

(show all 38)
# Title Authors Year
1
Classic Ehlers-Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father. ( 31061749 )
2019
2
Collagen V haploinsufficiency in a murine model of classic Ehlers-Danlos syndrome is associated with deficient structural and mechanical healing in tendons. ( 28387435 )
2017
3
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. ( 27292226 )
2016
4
Dilated aortic root and severe aortic regurgitation causing dilated cardiomyopathy in classic Ehlers-Danlos syndrome. ( 27413024 )
2016
5
Spontaneous rupture of a splenic aneurysm in classic Ehlers-Danlos syndrome. ( 27234128 )
2016
6
Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome. ( 26713685 )
2016
7
Structural in silico dissection of the collagen V interactome to identify genotype-phenotype correlations in classic Ehlers-Danlos Syndrome (EDS). ( 26608033 )
2015
8
Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype. ( 25987251 )
2015
9
Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype. ( 25797646 )
2015
10
Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. ( 25597651 )
2015
11
Functional adaptation of tendon and skeletal muscle to resistance training in three patients with genetically verified classic Ehlers Danlos Syndrome. ( 25489549 )
2014
12
Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients. ( 25122555 )
2014
13
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. ( 23587214 )
2013
14
Classic Ehlers-Danlos syndrome: case report and brief review of literature. ( 24001420 )
2013
15
Common iliac artery aneurysm and spontaneous dissection with contralateral iatrogenic common iliac artery dissection in classic ehlers-danlos syndrome. ( 23997563 )
2012
16
Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. ( 21193204 )
2011
17
Ehlers-Danlos syndrome (classic type): report of a case presenting with an unusual dental anomaly. ( 21968044 )
2011
18
Response to clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. ( 21217464 )
2011
19
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. ( 20635400 )
2010
20
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. ( 20847697 )
2010
21
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. ( 18972565 )
2009
22
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. ( 15580559 )
2005
23
Molecular genetics in classic Ehlers-Danlos syndrome. ( 16278879 )
2005
24
Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome. ( 15264295 )
2004
25
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. ( 12145749 )
2002
26
Factor XIIIa-positive dendrocyte rarefaction in Ehlers-Danlos syndrome, classic type. ( 11801775 )
2001
27
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. ( 10739762 )
2000
28
Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). ( 10796876 )
2000
29
The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum. ( 10946364 )
2000
30
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. ( 10777716 )
2000
31
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? ( 10602121 )
2000
32
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. ( 9783710 )
1998
33
A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. ( 9683580 )
1998
34
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. ( 9425231 )
1998
35
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. ( 9042913 )
1997
36
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). ( 8923000 )
1996
37
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. ( 8950675 )
1996
38
Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes. ( 8575750 )
1995

Variations for Classic Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Classic Ehlers-Danlos Syndrome:

6 (show top 50) (show all 1661)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL5A1 NM_000093.4(COL5A1): c.3906+3G> T single nucleotide variant Pathogenic rs786200922 GRCh37 Chromosome 9, 137705885: 137705885
2 COL5A1 NM_000093.4(COL5A1): c.3906+3G> T single nucleotide variant Pathogenic rs786200922 GRCh38 Chromosome 9, 134814039: 134814039
3 COL5A1 NM_000093.4(COL5A1): c.5370+3_5370+6delGAGT deletion Pathogenic rs786200923 GRCh37 Chromosome 9, 137727053: 137727056
4 COL5A1 NM_000093.4(COL5A1): c.5370+3_5370+6delGAGT deletion Pathogenic rs786200923 GRCh38 Chromosome 9, 134835207: 134835210
5 COL5A1 NM_000093.4(COL5A1): c.4916G> C (p.Cys1639Ser) single nucleotide variant Pathogenic rs80338764 GRCh37 Chromosome 9, 137716663: 137716663
6 COL5A1 NM_000093.4(COL5A1): c.4916G> C (p.Cys1639Ser) single nucleotide variant Pathogenic rs80338764 GRCh38 Chromosome 9, 134824817: 134824817
7 COL5A1 NM_000093.4(COL5A1): c.3259_3366del (p.Ser1088_Gly1123del) deletion Pathogenic
8 COL5A1 NM_000093.4(COL5A1): c.5137-11T> A single nucleotide variant Pathogenic rs183495554 GRCh38 Chromosome 9, 134834960: 134834960
9 COL5A1 NM_000093.4(COL5A1): c.5137-11T> A single nucleotide variant Pathogenic rs183495554 GRCh37 Chromosome 9, 137726806: 137726806
10 COL5A1 NM_000093.4(COL5A1): c.2701-25T> G single nucleotide variant Pathogenic rs765079080 GRCh38 Chromosome 9, 134795057: 134795057
11 COL5A1 NM_000093.4(COL5A1): c.2701-25T> G single nucleotide variant Pathogenic rs765079080 GRCh37 Chromosome 9, 137686903: 137686903
12 COL5A1 NM_000093.4(COL5A1): c.4466G> A (p.Gly1489Glu) single nucleotide variant Pathogenic rs121912932 GRCh37 Chromosome 9, 137711981: 137711981
13 COL5A1 NM_000093.4(COL5A1): c.4466G> A (p.Gly1489Glu) single nucleotide variant Pathogenic rs121912932 GRCh38 Chromosome 9, 134820135: 134820135
14 COL5A1 NM_000093.4(COL5A1): c.3752delC (p.Pro1251Argfs) deletion Pathogenic rs786205100 GRCh37 Chromosome 9, 137704458: 137704458
15 COL5A1 NM_000093.4(COL5A1): c.3752delC (p.Pro1251Argfs) deletion Pathogenic rs786205100 GRCh38 Chromosome 9, 134812612: 134812612
16 COL5A1 NM_000093.4(COL5A1): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121912933 GRCh37 Chromosome 9, 137666747: 137666747
17 COL5A1 NM_000093.4(COL5A1): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121912933 GRCh38 Chromosome 9, 134774901: 134774901
18 COL5A1 NM_000093.4(COL5A1): c.655-2A> G single nucleotide variant Pathogenic rs786205101 GRCh37 Chromosome 9, 137619110: 137619110
19 COL5A1 NM_000093.4(COL5A1): c.655-2A> G single nucleotide variant Pathogenic rs786205101 GRCh38 Chromosome 9, 134727264: 134727264
20 COL5A1 NM_000093.4(COL5A1): c.4339-1delG deletion Pathogenic rs786205102 GRCh37 Chromosome 9, 137710693: 137710693
21 COL5A1 NM_000093.4(COL5A1): c.4339-1delG deletion Pathogenic rs786205102 GRCh38 Chromosome 9, 134818847: 134818847
22 COL5A2 NM_000393.4(COL5A2): c.1924-2_1928del deletion Pathogenic rs786205103 GRCh37 Chromosome 2, 189927640: 189927646
23 COL5A2 NM_000393.4(COL5A2): c.1924-2_1928del deletion Pathogenic rs786205103 GRCh38 Chromosome 2, 189062914: 189062920
24 COL5A2 NM_000393.4(COL5A2): c.2031+1G> T single nucleotide variant Pathogenic rs786205104 GRCh37 Chromosome 2, 189926287: 189926287
25 COL5A2 NM_000393.4(COL5A2): c.2031+1G> T single nucleotide variant Pathogenic rs786205104 GRCh38 Chromosome 2, 189061561: 189061561
26 COL5A2 NM_000393.4(COL5A2): c.3445G> C (p.Gly1149Arg) single nucleotide variant Pathogenic rs121912930 GRCh37 Chromosome 2, 189907903: 189907903
27 COL5A2 NM_000393.4(COL5A2): c.3445G> C (p.Gly1149Arg) single nucleotide variant Pathogenic rs121912930 GRCh38 Chromosome 2, 189043177: 189043177
28 COL1A2 NM_000089.3(COL1A2): c.279+2T> C single nucleotide variant Pathogenic rs72656357 GRCh37 Chromosome 7, 94030934: 94030934
29 COL1A2 NM_000089.3(COL1A2): c.279+2T> C single nucleotide variant Pathogenic rs72656357 GRCh38 Chromosome 7, 94401622: 94401622
30 COL1A2 NM_000089.3(COL1A2): c.2123G> A (p.Arg708Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72658163 GRCh37 Chromosome 7, 94049588: 94049588
31 COL1A2 NM_000089.3(COL1A2): c.2123G> A (p.Arg708Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72658163 GRCh38 Chromosome 7, 94420276: 94420276
32 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
33 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh38 Chromosome 17, 50196337: 50196337
34 COL5A1 NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter) single nucleotide variant Pathogenic rs387906606 GRCh37 Chromosome 9, 137696890: 137696890
35 COL5A1 NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter) single nucleotide variant Pathogenic rs387906606 GRCh38 Chromosome 9, 134805044: 134805044
36 COL1A2 NM_000089.3(COL1A2): c.1295G> A (p.Arg432Gln) single nucleotide variant Uncertain significance rs139446305 GRCh37 Chromosome 7, 94040411: 94040411
37 COL1A2 NM_000089.3(COL1A2): c.1295G> A (p.Arg432Gln) single nucleotide variant Uncertain significance rs139446305 GRCh38 Chromosome 7, 94411099: 94411099
38 COL1A2 NM_000089.3(COL1A2): c.1383C> T (p.Pro461=) single nucleotide variant Benign/Likely benign rs139726213 GRCh37 Chromosome 7, 94041412: 94041412
39 COL1A2 NM_000089.3(COL1A2): c.1383C> T (p.Pro461=) single nucleotide variant Benign/Likely benign rs139726213 GRCh38 Chromosome 7, 94412100: 94412100
40 COL1A2 NM_000089.3(COL1A2): c.2082C> A (p.Gly694=) single nucleotide variant Likely benign rs193229878 GRCh37 Chromosome 7, 94049547: 94049547
41 COL1A2 NM_000089.3(COL1A2): c.2082C> A (p.Gly694=) single nucleotide variant Likely benign rs193229878 GRCh38 Chromosome 7, 94420235: 94420235
42 COL1A2 NM_000089.3(COL1A2): c.2700C> T (p.Ala900=) single nucleotide variant Benign/Likely benign rs141688356 GRCh37 Chromosome 7, 94054455: 94054455
43 COL1A2 NM_000089.3(COL1A2): c.2700C> T (p.Ala900=) single nucleotide variant Benign/Likely benign rs141688356 GRCh38 Chromosome 7, 94425143: 94425143
44 COL1A2 NM_000089.3(COL1A2): c.3018C> T (p.Gly1006=) single nucleotide variant Benign/Likely benign rs62001059 GRCh37 Chromosome 7, 94055755: 94055755
45 COL1A2 NM_000089.3(COL1A2): c.3018C> T (p.Gly1006=) single nucleotide variant Benign/Likely benign rs62001059 GRCh38 Chromosome 7, 94426443: 94426443
46 COL1A2 NM_000089.3(COL1A2): c.3336C> T (p.Tyr1112=) single nucleotide variant Benign/Likely benign rs34691365 GRCh37 Chromosome 7, 94057007: 94057007
47 COL1A2 NM_000089.3(COL1A2): c.3336C> T (p.Tyr1112=) single nucleotide variant Benign/Likely benign rs34691365 GRCh38 Chromosome 7, 94427695: 94427695
48 COL1A2 NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser) single nucleotide variant Pathogenic rs72656387 GRCh37 Chromosome 7, 94038679: 94038679
49 COL1A2 NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser) single nucleotide variant Pathogenic rs72656387 GRCh38 Chromosome 7, 94409367: 94409367
50 COL1A2 NM_000089.3(COL1A2): c.948C> T (p.Gly316=) single nucleotide variant Benign/Likely benign rs34511999 GRCh37 Chromosome 7, 94039046: 94039046

Expression for Classic Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Classic Ehlers-Danlos Syndrome.

Pathways for Classic Ehlers-Danlos Syndrome

Pathways related to Classic Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 COL1A1 COL1A2 COL5A1 COL5A2
2
Show member pathways
12.63 COL1A1 COL1A2 COL5A1 COL5A2
3
Show member pathways
12.6 COL1A1 COL1A2 TNXB
4
Show member pathways
12.32 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
5
Show member pathways
12.28 COL1A1 COL1A2 COL5A1 COL5A2
6
Show member pathways
12.01 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
7
Show member pathways
11.77 COL1A1 COL1A2 TNXB
8
Show member pathways
11.77 COL1A1 COL1A2 COL5A1 COL5A2
9 11.69 COL1A1 COL1A2
10
Show member pathways
11.6 COL1A1 COL1A2
11 11.58 COL1A1 COL1A2
12 11.55 COL1A1 COL1A2
13 11.36 COL1A1 COL1A2
14 11.33 COL1A1 COL1A2
15 11.23 COL1A1 COL1A2
16 11.11 COL1A1 COL1A2
17 11.09 COL1A1 COL1A2
18 11 COL1A1 COL1A2
19 10.82 COL1A1 COL1A2
20 10.56 COL1A2 COL5A1 COL5A2 TNXB
21 10.53 COL1A1 COL1A2 COL5A1 COL5A2

GO Terms for Classic Ehlers-Danlos Syndrome

Cellular components related to Classic Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.83 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
2 extracellular space GO:0005615 9.8 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
3 endoplasmic reticulum lumen GO:0005788 9.62 COL1A1 COL1A2 COL5A1 COL5A2
4 collagen trimer GO:0005581 9.46 COL1A1 COL1A2 COL5A1 COL5A2
5 collagen type V trimer GO:0005588 9.37 COL5A1 COL5A2
6 extracellular matrix GO:0031012 9.35 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
7 collagen type I trimer GO:0005584 9.26 COL1A1 COL1A2
8 collagen-containing extracellular matrix GO:0062023 9.02 COL1A1 COL1A2 COL5A1 COL5A2 TNXB

Biological processes related to Classic Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.65 COL1A1 COL1A2 COL5A2
2 cellular response to amino acid stimulus GO:0071230 9.54 COL1A1 COL1A2 COL5A2
3 platelet activation GO:0030168 9.52 COL1A1 COL1A2
4 ossification GO:0001503 9.51 COL1A1 COL5A2
5 blood vessel development GO:0001568 9.5 COL1A1 COL1A2 COL5A1
6 protein heterotrimerization GO:0070208 9.49 COL1A1 COL1A2
7 collagen biosynthetic process GO:0032964 9.46 COL1A1 COL5A1
8 skin morphogenesis GO:0043589 9.43 COL1A1 COL1A2
9 eye morphogenesis GO:0048592 9.4 COL5A1 COL5A2
10 extracellular matrix organization GO:0030198 9.35 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
11 skin development GO:0043588 9.33 COL1A1 COL5A1 COL5A2
12 negative regulation of endodermal cell differentiation GO:1903225 9.26 COL5A1 COL5A2
13 collagen fibril organization GO:0030199 9.02 COL1A1 COL1A2 COL5A1 COL5A2 TNXB

Molecular functions related to Classic Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.4 COL5A1 TNXB
2 integrin binding GO:0005178 9.37 COL5A1 TNXB
3 platelet-derived growth factor binding GO:0048407 9.33 COL1A1 COL1A2 COL5A1
4 protease binding GO:0002020 9.32 COL1A1 COL1A2
5 SMAD binding GO:0046332 9.26 COL1A2 COL5A2
6 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL1A1 COL1A2 COL5A1 COL5A2
7 extracellular matrix structural constituent GO:0005201 9.02 COL1A1 COL1A2 COL5A1 COL5A2 TNXB

Sources for Classic Ehlers-Danlos Syndrome

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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