MCID: EHL074
MIFTS: 38

Ehlers-Danlos Syndrome, Classic Type, 2

Categories: Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases, Rare 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
Ehlers-Danlos Syndrome Type 2 59 73
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
Eds Ii, Formerly 57
Eds2, Formerly 57
Edscl2 57
Eds Ii 59

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant


Classifications:



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 2, is related to ehlers-danlos syndrome, classic type, 1 and larsen-like 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 and bone, and related phenotypes are pectus excavatum and hypertension

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

Diseases in the Ehlers-Danlos Syndrome, Classic-Like family:

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

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

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 1 30.2 COL1A1 COL5A1 COL5A2
2 larsen-like syndrome 9.7 COL1A1 COL5A2
3 hypermobility syndrome 9.2 COL5A1 COL5A2
4 caspase 8 deficiency 9.1 COL5A1 COL5A2
5 connective tissue disease 9.0 COL1A1 COL5A1
6 ehlers-danlos syndrome, classic type 8.8 COL1A1 COL5A1 COL5A2
7 collagen disease 8.8 COL1A1 COL5A1 COL5A2
8 ehlers-danlos syndrome 8.7 COL1A1 COL5A1 COL5A2

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 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
2 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
3 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
4 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
5 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
6 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
7 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
8 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
9 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
10 aortic dissection 59 32 occasional (7.5%) Occasional (29-5%) HP:0002647
11 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
12 varicose veins 59 32 frequent (33%) Frequent (79-30%) HP:0002619
13 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
14 recurrent urinary tract infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0000010
15 bladder diverticulum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000015
16 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
17 congenital diaphragmatic hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000776
18 peritonitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002586
19 cigarette-paper scars 59 32 hallmark (90%) Very frequent (99-80%) HP:0001073
20 femoral hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100541
21 soft skin 59 32 frequent (33%) Frequent (79-30%) HP:0000977
22 hernia 59 Frequent (79-30%)
23 aortic dilatation 59 Frequent (79-30%)
24 abnormality of the oral cavity 59 Occasional (29-5%)
25 dermal atrophy 59 Very frequent (99-80%)
26 aortic aneurysm 32 frequent (33%) HP:0004942
27 abnormal oral cavity morphology 32 occasional (7.5%) HP:0000163

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.33 COL1A1 COL5A1 COL5A2
2 normal MP:0002873 9.13 COL1A1 COL5A1 COL5A2
3 vision/eye MP:0005391 8.8 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

Publications for Ehlers-Danlos Syndrome, Classic Type, 2

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

# Title Authors Year
1
Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). ( 8541855 )
1995

Variations for Ehlers-Danlos Syndrome, Classic Type, 2

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

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 region GO:0005576 9.54 COL1A1 COL5A1 COL5A2
2 extracellular space GO:0005615 9.5 COL1A1 COL5A1 COL5A2
3 endoplasmic reticulum lumen GO:0005788 9.43 COL1A1 COL5A1 COL5A2
4 extracellular matrix GO:0031012 9.33 COL1A1 COL5A1 COL5A2
5 collagen trimer GO:0005581 9.13 COL1A1 COL5A1 COL5A2
6 collagen type V trimer GO:0005588 8.62 COL5A1 COL5A2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.58 COL1A1 COL5A1 COL5A2
2 skeletal system development GO:0001501 9.49 COL1A1 COL5A2
3 ossification GO:0001503 9.48 COL1A1 COL5A2
4 blood vessel development GO:0001568 9.46 COL1A1 COL5A1
5 cellular response to amino acid stimulus GO:0071230 9.43 COL1A1 COL5A2
6 collagen biosynthetic process GO:0032964 9.37 COL1A1 COL5A1
7 collagen catabolic process GO:0030574 9.33 COL1A1 COL5A1 COL5A2
8 eye morphogenesis GO:0048592 9.32 COL5A1 COL5A2
9 negative regulation of endodermal cell differentiation GO:1903225 9.26 COL5A1 COL5A2
10 skin development GO:0043588 9.13 COL1A1 COL5A1 COL5A2
11 collagen fibril organization GO:0030199 8.8 COL1A1 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 platelet-derived growth factor binding GO:0048407 8.96 COL1A1 COL5A1
2 extracellular matrix structural constituent GO:0005201 8.8 COL1A1 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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