EDSCL2
MCID: EHL074
MIFTS: 46

Ehlers-Danlos Syndrome, Classic Type, 2 (EDSCL2)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Classic Type, 2

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Classic Type, 2:

Name: Ehlers-Danlos Syndrome, Classic Type, 2 57 75
Ehlers-Danlos Syndrome, Type Ii 75 13 55
Ehlers-Danlos Syndrome Type 2 59 73
Edscl2 57 75
Eds Ii 59 75
Ehlers-Danlos Syndrome, Type Ii, Formerly; Eds2, Formerly 57
Ehlers Danlos Syndrome, Mild Classic Type, Formerly 57
Ehlers Danlos Syndrome, Mitis Type, Formerly 57
Ehlers-Danlos Syndrome, Type Ii, Formerly 57
Ehlers-Danlos Syndrome Mild Classic Type 75
Ehlers-Danlos Syndrome Mitis Type 75
Ehlers-Danlos Syndrome 2 75
Eds Ii, Formerly 57
Eds2, Formerly 57
Eds2 75

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome type 2
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 57 130010
Orphanet 59 ORPHA90318
MESH via Orphanet 45 C536195
UMLS via Orphanet 74 C0268336
ICD10 via Orphanet 34 Q79.6
MedGen 42 C0268336
MeSH 44 D004535
UMLS 73 C0268336

Summaries for Ehlers-Danlos Syndrome, Classic Type, 2

OMIM : 57 The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively. For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see 130000. (130010)

MalaCards based summary : Ehlers-Danlos Syndrome, Classic Type, 2, also known as ehlers-danlos syndrome, type ii, is related to ehlers-danlos syndrome, classic type, 1 and ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Classic Type, 2 is COL5A2 (Collagen Type V Alpha 2 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include skin, bone and pancreas, and related phenotypes are pectus excavatum and hypertension

UniProtKB/Swiss-Prot : 75 Ehlers-Danlos syndrome, classic type, 2: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL2 inheritance is autosomal dominant.

Related Diseases for Ehlers-Danlos Syndrome, Classic Type, 2

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 Ehlers-Danlos Syndrome, Classic Type, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 1 31.3 COL5A2 COL5A1 COL3A1 COL1A1
2 ehlers-danlos syndrome 28.9 COL5A2 COL5A1 COL3A1 COL1A1
3 nail-patella syndrome 10.1
4 pancreas, annular 10.1
5 tuberous sclerosis 1 10.1
6 duodenal atresia 10.1
7 hereditary hemorrhagic telangiectasia 10.1
8 tuberous sclerosis 10.1
9 cutis laxa 10.1
10 caspase 8 deficiency 10.0 COL5A2 COL5A1
11 osteogenesis imperfecta, type vii 10.0 COL1A1 CD36
12 osteogenesis imperfecta, type v 10.0 COL1A1 CD36
13 scleroderma, familial progressive 10.0 COL1A1 CD36
14 caffey disease 10.0 COL1A1 CD36
15 osteoporosis, juvenile 10.0 COL1A1 CD36
16 osteogenesis imperfecta, type i 10.0 COL1A1 CD36
17 osteogenesis imperfecta, type iv 10.0 COL1A1 CD36
18 osteogenesis imperfecta, type iii 9.9 COL1A1 CD36
19 osteogenesis imperfecta, type ii 9.9 COL1A1 CD36
20 bruck syndrome 9.9 COL1A1 CD36
21 ehlers-danlos syndrome, vascular type 9.9 COL5A1 COL3A1
22 hypermobility syndrome 9.9 COL3A1 COL5A1
23 loeys-dietz syndrome 9.9 COL5A2 COL3A1
24 pelvic organ prolapse 9.8 COL3A1 COL1A1
25 marfan syndrome 9.8 COL5A2 COL3A1
26 spondyloepiphyseal dysplasia congenita 9.8 COL3A1 COL1A1
27 classic ehlers-danlos syndrome 9.8 COL5A2 COL5A1 COL1A1
28 otosclerosis 9.8 COL1A1 CD36
29 pfeiffer syndrome 9.8 COL3A1 COL1A1
30 bone disease 9.8 COL1A1 CD36
31 larsen-like syndrome 9.7 COL5A2 COL3A1 COL1A1
32 brittle bone disorder 9.7 COL3A1 COL1A1 CD36
33 connective tissue disease 9.7 COL5A1 COL3A1 COL1A1
34 collagen disease 9.5 COL5A2 COL5A1 COL3A1 COL1A1

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Classic Type, 2:



Diseases related to Ehlers-Danlos Syndrome, Classic Type, 2

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Classic Type, 2

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
joint hypermobility
joint laxity, generalized

Skeletal Pelvis:
congenital hip dislocation (in some patients)

Skeletal Feet:
club feet (in some patients)

Skin Nails Hair Skin:
hyperextensible skin
fragile skin
easy bruisability
soft, velvety skin
'cigarette paper scarring'

Skeletal Limbs:
joint dislocation, recurrent (e.g., shoulder, patella)


Clinical features from OMIM:

130010

Human phenotypes related to Ehlers-Danlos Syndrome, Classic Type, 2:

59 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 Frequent (79-30%)
2 hypertension 59 Occasional (29-5%)
3 inguinal hernia 59 Frequent (79-30%)
4 pectus carinatum 59 Frequent (79-30%)
5 umbilical hernia 59 Frequent (79-30%)
6 pes planus 59 Frequent (79-30%)
7 gastroesophageal reflux 59 Frequent (79-30%)
8 hernia 59 Frequent (79-30%)
9 joint hyperflexibility 59 Very frequent (99-80%)
10 thin skin 59 Frequent (79-30%)
11 aortic dissection 59 Occasional (29-5%)
12 aortic dilatation 59 Frequent (79-30%)
13 retinal detachment 59 Occasional (29-5%)
14 varicose veins 59 Frequent (79-30%)
15 bruising susceptibility 59 Frequent (79-30%)
16 recurrent urinary tract infections 59 Occasional (29-5%)
17 bladder diverticulum 59 Occasional (29-5%)
18 hyperextensible skin 59 Very frequent (99-80%)
19 congenital diaphragmatic hernia 59 Frequent (79-30%)
20 peritonitis 59 Occasional (29-5%)
21 abnormality of the oral cavity 59 Occasional (29-5%)
22 dermal atrophy 59 Very frequent (99-80%)
23 cigarette-paper scars 59 Very frequent (99-80%)
24 femoral hernia 59 Frequent (79-30%)
25 soft skin 59 Frequent (79-30%)

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Classic Type, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.72 CD36 COL1A1 COL3A1 COL5A1 COL5A2
2 growth/size/body region MP:0005378 9.65 CD36 COL1A1 COL3A1 COL5A1 COL5A2
3 integument MP:0010771 9.46 COL1A1 COL3A1 COL5A1 COL5A2
4 mortality/aging MP:0010768 9.35 CD36 COL1A1 COL3A1 COL5A1 COL5A2
5 vision/eye MP:0005391 8.92 CD36 COL1A1 COL5A1 COL5A2

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Classic Type, 2

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Classic Type, 2

Genetic Tests for Ehlers-Danlos Syndrome, Classic Type, 2

Anatomical Context for Ehlers-Danlos Syndrome, Classic Type, 2

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Classic Type, 2:

41
Skin, Bone, Pancreas

Publications for Ehlers-Danlos Syndrome, Classic Type, 2

Articles related to Ehlers-Danlos Syndrome, Classic Type, 2:

(show all 16)
# Title Authors Year
1
[Maternal Ehlers-Danlos syndrome type II occuring with foetal duodenal atresia and annular pancreas: first description]. ( 21541907 )
2011
2
EHLERS-DANLOS SYNDROME-TYPE II. ( 28775640 )
1999
3
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. ( 9783710 )
1998
4
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
5
Ehlers-Danlos syndrome type II in pregnancy. ( 9259907 )
1997
6
Anesthesia for cesarean delivery in a patient with Ehlers-Danlos syndrome type II. ( 9168222 )
1997
7
Cutis laxa complicating Ehlers-Danlos syndrome type II. ( 8759202 )
1996
8
Ehlers-Danlos syndrome type II: importance of recognition. ( 7487742 )
1995
9
COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. ( 7759113 )
1995
10
Molecular analysis of Ehlers-Danlos syndrome type II. ( 2049574 )
1991
11
[Structural characteristics of collagens from the skin and rib cartilage of patients with Ehlers-Danlos syndrome type II]. ( 2343586 )
1990
12
Image interpretation session. Ehlers-Danlos syndrome, type II. ( 2296687 )
1990
13
Case report and study of collagen metabolism in Ehlers-Danlos syndrome type II. ( 3049731 )
1988
14
Familial Ehlers-Danlos syndrome type II: abnormal fibrillogenesis of dermal collagen. ( 3422850 )
1987
15
Clinical features and an ultrastructural study of Ehlers-Danlos Syndrome type II. ( 6759549 )
1982
16
Ehlers-Danlos syndrome, type II (mitis). ( 7168916 )
1982

Variations for Ehlers-Danlos Syndrome, Classic Type, 2

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Classic Type, 2:

75
# Symbol AA change Variation ID SNP ID
1 COL5A2 p.Gly963Arg VAR_013588 rs118655079
2 COL5A2 p.Gly228Arg VAR_078424

Expression for Ehlers-Danlos Syndrome, Classic Type, 2

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Classic Type, 2.

Pathways for Ehlers-Danlos Syndrome, Classic Type, 2

Pathways related to Ehlers-Danlos Syndrome, Classic Type, 2 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 CD36 COL1A1 COL3A1 COL5A1 COL5A2
2
Show member pathways
12.67 COL1A1 COL3A1 COL5A1 COL5A2
3
Show member pathways
12.52 COL1A1 COL3A1 COL5A1 COL5A2
4
Show member pathways
12.39 COL1A1 COL3A1 COL5A1 COL5A2
5
Show member pathways
12.11 COL1A1 COL3A1 COL5A1 COL5A2
6
Show member pathways
11.84 COL1A1 COL3A1 COL5A1 COL5A2
7
Show member pathways
11.74 CD36 COL1A1
8 11.65 COL1A1 COL3A1
9 11.57 COL1A1 COL3A1
10 11.53 COL1A1 COL3A1
11 11.51 COL1A1 COL3A1
12
Show member pathways
11.51 CD36 COL1A1 COL3A1
13 11.3 COL1A1 COL3A1
14 11.01 COL1A1 COL3A1
15 10.84 CD36 COL1A1 COL3A1
16 10.61 COL1A1 COL3A1 COL5A1 COL5A2
17 10.43 COL3A1 COL5A1 COL5A2

GO Terms for Ehlers-Danlos Syndrome, Classic Type, 2

Cellular components related to Ehlers-Danlos Syndrome, Classic Type, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.77 CD36 COL1A1 COL3A1 COL5A1 COL5A2
2 extracellular region GO:0005576 9.71 COL1A1 COL3A1 COL5A1 COL5A2
3 extracellular matrix GO:0031012 9.56 COL1A1 COL3A1 COL5A1 COL5A2
4 endoplasmic reticulum lumen GO:0005788 9.46 COL1A1 COL3A1 COL5A1 COL5A2
5 collagen type V trimer GO:0005588 9.32 COL5A1 COL5A2
6 collagen-containing extracellular matrix GO:0062023 9.26 COL1A1 COL3A1 COL5A1 COL5A2
7 collagen trimer GO:0005581 8.92 COL1A1 COL3A1 COL5A1 COL5A2

Biological processes related to Ehlers-Danlos Syndrome, Classic Type, 2 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.63 COL1A1 COL3A1 COL5A2
2 platelet activation GO:0030168 9.54 COL1A1 COL3A1
3 cellular response to amino acid stimulus GO:0071230 9.54 COL1A1 COL3A1 COL5A2
4 wound healing GO:0042060 9.52 COL1A1 COL3A1
5 ossification GO:0001503 9.51 COL1A1 COL5A2
6 blood vessel development GO:0001568 9.5 COL1A1 COL3A1 COL5A1
7 response to mechanical stimulus GO:0009612 9.49 COL1A1 COL3A1
8 supramolecular fiber organization GO:0097435 9.48 COL3A1 COL5A1
9 extracellular matrix organization GO:0030198 9.46 COL1A1 COL3A1 COL5A1 COL5A2
10 collagen biosynthetic process GO:0032964 9.43 COL1A1 COL5A1
11 eye morphogenesis GO:0048592 9.4 COL5A1 COL5A2
12 negative regulation of endodermal cell differentiation GO:1903225 9.26 COL5A1 COL5A2
13 collagen fibril organization GO:0030199 9.26 COL1A1 COL3A1 COL5A1 COL5A2
14 skin development GO:0043588 8.92 COL1A1 COL3A1 COL5A1 COL5A2

Molecular functions related to Ehlers-Danlos Syndrome, Classic Type, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.46 COL1A1 COL3A1 COL5A1 COL5A2
2 integrin binding GO:0005178 9.37 COL3A1 COL5A1
3 protease binding GO:0002020 9.32 COL1A1 COL3A1
4 SMAD binding GO:0046332 9.26 COL3A1 COL5A2
5 platelet-derived growth factor binding GO:0048407 9.13 COL1A1 COL3A1 COL5A1
6 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.92 COL1A1 COL3A1 COL5A1 COL5A2

Sources for Ehlers-Danlos Syndrome, Classic Type, 2

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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