EDSCL2
MCID: EHL074
MIFTS: 49

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 58 76
Ehlers-Danlos Syndrome, Type Ii 76 13 56
Ehlers-Danlos Syndrome Type 2 60 74
Edscl2 58 76
Eds Ii 60 76
Ehlers-Danlos Syndrome, Type Ii, Formerly; Eds2, Formerly 58
Ehlers Danlos Syndrome, Mild Classic Type, Formerly 58
Ehlers Danlos Syndrome, Mitis Type, Formerly 58
Ehlers-Danlos Syndrome, Type Ii, Formerly 58
Ehlers-Danlos Syndrome Mild Classic Type 76
Ehlers-Danlos Syndrome Mitis Type 76
Ehlers-Danlos Syndrome 2 76
Eds Ii, Formerly 58
Eds2, Formerly 58
Eds2 76

Characteristics:

Orphanet epidemiological data:

60
ehlers-danlos syndrome type 2
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 58 130010
MeSH 45 D004535
MESH via Orphanet 46 C536195
ICD10 via Orphanet 35 Q79.6
UMLS via Orphanet 75 C0268336
Orphanet 60 ORPHA90318
UMLS 74 C0268336

Summaries for Ehlers-Danlos Syndrome, Classic Type, 2

OMIM : 58 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. The drugs Clindamycin and Rifampicin have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and pancreas, and related phenotypes are pectus excavatum and hypertension

UniProtKB/Swiss-Prot : 76 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 33)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 1 31.0 COL5A2 COL5A1 COL3A1 COL1A1
2 ehlers-danlos syndrome 28.5 COL5A1 COL3A1 COL1A1 COL5A2
3 nail-patella syndrome 10.2
4 pancreas, annular 10.2
5 tuberous sclerosis 1 10.2
6 duodenal atresia 10.2
7 hereditary hemorrhagic telangiectasia 10.2
8 tuberous sclerosis 10.2
9 cutis laxa 10.2
10 caspase 8 deficiency 10.1 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 9.9 COL1A1 CD36
15 osteoporosis, juvenile 9.9 COL1A1 CD36
16 osteogenesis imperfecta, type iv 9.9 COL1A1 CD36
17 osteogenesis imperfecta, type i 9.9 COL1A1 CD36
18 osteogenesis imperfecta, type iii 9.9 COL1A1 CD36
19 osteogenesis imperfecta, type ii 9.9 COL1A1 CD36
20 ehlers-danlos syndrome, vascular type 9.9 COL5A1 COL3A1
21 bruck syndrome 9.9 COL1A1 CD36
22 hypermobility syndrome 9.8 COL5A1 COL3A1
23 pelvic organ prolapse 9.8 COL3A1 COL1A1
24 loeys-dietz syndrome 9.7 COL5A2 COL3A1
25 spondyloepiphyseal dysplasia congenita 9.7 COL3A1 COL1A1
26 classic ehlers-danlos syndrome 9.7 COL1A1 COL5A1 COL5A2
27 marfan syndrome 9.7 COL5A2 COL3A1
28 bone disease 9.6 COL1A1 CD36
29 larsen-like syndrome 9.6 COL5A2 COL3A1 COL1A1
30 pfeiffer syndrome 9.6 COL3A1 COL1A1
31 brittle bone disorder 9.5 CD36 COL1A1 COL3A1
32 connective tissue disease 9.5 COL5A1 COL3A1 COL1A1
33 collagen disease 9.3 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

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

60 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 60 Frequent (79-30%)
2 hypertension 60 Occasional (29-5%)
3 inguinal hernia 60 Frequent (79-30%)
4 pectus carinatum 60 Frequent (79-30%)
5 umbilical hernia 60 Frequent (79-30%)
6 pes planus 60 Frequent (79-30%)
7 gastroesophageal reflux 60 Frequent (79-30%)
8 hernia 60 Frequent (79-30%)
9 joint hyperflexibility 60 Very frequent (99-80%)
10 thin skin 60 Frequent (79-30%)
11 aortic dissection 60 Occasional (29-5%)
12 aortic dilatation 60 Frequent (79-30%)
13 retinal detachment 60 Occasional (29-5%)
14 varicose veins 60 Frequent (79-30%)
15 bruising susceptibility 60 Frequent (79-30%)
16 recurrent urinary tract infections 60 Occasional (29-5%)
17 bladder diverticulum 60 Occasional (29-5%)
18 hyperextensible skin 60 Very frequent (99-80%)
19 congenital diaphragmatic hernia 60 Frequent (79-30%)
20 peritonitis 60 Occasional (29-5%)
21 abnormality of the oral cavity 60 Occasional (29-5%)
22 dermal atrophy 60 Very frequent (99-80%)
23 cigarette-paper scars 60 Very frequent (99-80%)
24 femoral hernia 60 Frequent (79-30%)
25 soft skin 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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

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

47
# 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

Drugs for Ehlers-Danlos Syndrome, Classic Type, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clindamycin Approved, Vet_approved Phase 3 18323-44-9 29029
2
Rifampicin Approved Phase 3 13292-46-1 5381226 5458213
3 Anti-Bacterial Agents Phase 3
4 Anti-Infective Agents Phase 3
5 Antibiotics, Antitubercular Phase 3
6 Antitubercular Agents Phase 3
7 Clindamycin palmitate Phase 3
8 Clindamycin phosphate Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impact of Ventricular Catheter Used With Antimicrobial Agents on Patients With a Ventricular Catheter Completed NCT00286104 Phase 3

Search 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:

42
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:

76
# 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 11.54 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 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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