MCID: CLS054
MIFTS: 36

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 24 53
Ehlers-Danlos Syndrome, Classic Type 24 53 29 6
Classical Ehlers-Danlos Syndrome 53
Eds, Classic Type 24

Characteristics:

GeneReviews:

24
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 : 53 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 ehlers-danlos syndrome, classic type, 2 and ehlers-danlos syndrome, classic type, 1. 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 skeletal muscle, and related phenotypes are cardiovascular system and integument

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 36)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 2 32.1 COL1A1 COL5A1 COL5A2
2 ehlers-danlos syndrome, classic type, 1 31.8 COL1A1 COL1A2 COL5A1 COL5A2
3 ehlers-danlos syndrome 30.3 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
4 hypermobility syndrome 30.1 COL5A1 TNXB
5 cutis laxa, autosomal dominant 1 11.4
6 cutis laxa, autosomal recessive, type ia 11.4
7 ehlers-danlos syndrome, classic-like 11.4
8 cutis laxa, autosomal recessive, type ic 11.4
9 von willebrand disease, type 1 10.2
10 von willebrand's disease 10.2
11 dilated cardiomyopathy 10.2
12 aortic valve insufficiency 10.2
13 caspase 8 deficiency 10.0 COL5A1 COL5A2
14 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A1 COL1A2
15 high bone mass osteogenesis imperfecta 10.0 COL1A1 COL1A2
16 osteogenesis imperfecta, type vii 10.0 COL1A1 COL1A2
17 osteogenesis imperfecta, type viii 10.0 COL1A1 COL1A2
18 osteogenesis imperfecta, type v 10.0 COL1A1 COL1A2
19 scleroderma, familial progressive 10.0 COL1A1 COL1A2
20 caffey disease 10.0 COL1A1 COL1A2
21 osteogenesis imperfecta, type iv 10.0 COL1A1 COL1A2
22 osteogenesis imperfecta, type i 10.0 COL1A1 COL1A2
23 dentinogenesis imperfecta 10.0 COL1A1 COL1A2
24 spondyloepiphyseal dysplasia congenita 9.9 COL1A1 COL1A2
25 osteogenesis imperfecta, type iii 9.9 COL1A1 COL1A2
26 osteogenesis imperfecta, type ii 9.9 COL1A1 COL1A2
27 bruck syndrome 9.9 COL1A1 COL1A2
28 bone development disease 9.9 COL1A1 COL1A2
29 marfan syndrome 9.9 COL1A2 COL5A2
30 brittle bone disorder 9.9 COL1A1 COL1A2
31 pelvic organ prolapse 9.8 COL1A1 TNXB
32 osteochondrodysplasia 9.8 COL1A1 COL1A2
33 larsen-like syndrome 9.8 COL1A1 COL1A2 COL5A2
34 otosclerosis 9.8 COL1A1 COL1A2
35 connective tissue disease 9.5 COL1A1 COL1A2 COL5A1 TNXB
36 collagen disease 9.3 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

MGI Mouse Phenotypes related to Classic Ehlers-Danlos Syndrome:

46
# 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 29 COL5A1

Anatomical Context for Classic Ehlers-Danlos Syndrome

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

41
Skin, Bone, Skeletal Muscle

Publications for Classic Ehlers-Danlos Syndrome

Articles related to Classic Ehlers-Danlos Syndrome:

(show all 24)
# Title Authors Year
1
Collagen V haploinsufficiency in a murine model of classic Ehlers-Danlos syndrome is associated with deficient structural and mechanical healing in tendons. ( 28387435 )
2017
2
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. ( 27292226 )
2016
3
Dilated aortic root and severe aortic regurgitation causing dilated cardiomyopathy in classic Ehlers-Danlos syndrome. ( 27413024 )
2016
4
Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome. ( 26713685 )
2016
5
Spontaneous rupture of a splenic aneurysm in classic Ehlers-Danlos syndrome. ( 27234128 )
2016
6
Targeted deletion of collagen v in tendons and ligaments results in a classic ehlers-danlos syndrome joint phenotype. ( 25797646 )
2015
7
Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype. ( 25987251 )
2015
8
Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. ( 25597651 )
2015
9
Structural in silico dissection of the collagen V interactome to identify genotype-phenotype correlations in classic Ehlers-Danlos Syndrome (EDS). ( 26608033 )
2015
10
Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients. ( 25122555 )
2014
11
Functional adaptation of tendon and skeletal muscle to resistance training in three patients with genetically verified classic Ehlers Danlos Syndrome. ( 25489549 )
2014
12
Classic Ehlers-Danlos syndrome: case report and brief review of literature. ( 24001420 )
2013
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
Common iliac artery aneurysm and spontaneous dissection with contralateral iatrogenic common iliac artery dissection in classic ehlers-danlos syndrome. ( 23997563 )
2012
15
Ehlers-Danlos syndrome (classic type): report of a case presenting with an unusual dental anomaly. ( 21968044 )
2011
16
Response to clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. ( 21217464 )
2011
17
Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. ( 21193204 )
2011
18
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. ( 20635400 )
2010
19
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. ( 20847697 )
2010
20
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. ( 18972565 )
2009
21
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. ( 15580559 )
2005
22
Molecular genetics in classic Ehlers-Danlos syndrome. ( 16278879 )
2005
23
Factor XIIIa-positive dendrocyte rarefaction in Ehlers-Danlos syndrome, classic type. ( 11801775 )
2001
24
Ehlers-Danlos Syndrome, Classic Type ( 20301422 )
1993

Variations for Classic Ehlers-Danlos Syndrome

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
12.61 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 COL5A1 COL5A2
8
Show member pathways
11.76 COL1A1 COL1A2 TNXB
9 11.69 COL1A1 COL1A2
10
Show member pathways
11.6 COL1A1 COL1A2
11 11.57 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 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
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