EDS
MCID: EHL033
MIFTS: 55

Ehlers-Danlos Syndrome, Classic Type (EDS) malady

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Classic Type

Aliases & Descriptions for Ehlers-Danlos Syndrome, Classic Type:

Name: Ehlers-Danlos Syndrome, Classic Type 54 23 50 24 56 66
Ehlers-Danlos Syndrome, Type Ii 66 13 52
Ehlers-Danlos Syndrome, Type I 66 13 52
Classic Ehlers-Danlos Syndrome 50 29
Ehlers-Danlos Syndrome 23 69
Ehlers-Danlos Syndrome, Severe Classic Type 66
Ehlers Danlos Syndrome, Mild Classic Type 66
Ehlers-Danlos Syndrome, Gravis Type 66
Ehlers Danlos Syndrome, Mitis Type 66
Classical Ehlers-Danlos Syndrome 50
Ehlers-Danlos Syndrome, Classic 54
Ehlers-Danlos Syndrome Type 2 69
Ehlers-Danlos Syndrome Type 1 69
Ehlers-Danlos Syndrome 1 66
Classical Type; Eds 23
Eds, Classic Type 56
Classic Type 23
Classic Eds 24
Eds Ii 66
Eds I 66
Eds1 66
Eds2 66
Eds 66

Characteristics:

Orphanet epidemiological data:

56
ehlers-danlos syndrome, classic type
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal;

GeneReviews:

23
ehlers-danlos syndrome, classic type:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Inter- and intrafamilial variability in the severity of the phenotype can be great...

Classifications:



External Ids:

OMIM 54 130000
Orphanet 56 ORPHA287
ICD10 via Orphanet 34 Q79.6
MedGen 40 C0268335
MeSH 42 D004535

Summaries for Ehlers-Danlos Syndrome, Classic Type

OMIM : 54 The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features... (130000) more...

MalaCards based summary : Ehlers-Danlos Syndrome, Classic Type, also known as ehlers-danlos syndrome, type ii, is related to ehlers-danlos syndrome, type iv and ehlers-danlos syndrome, classic type, col5a1-related, and has symptoms including fatigue, myalgia and cachexia. An important gene associated with Ehlers-Danlos Syndrome, Classic Type is COL5A2 (Collagen Type V Alpha 2 Chain), and among its related pathways/superpathways are Integrin Pathway and Vesicle-mediated transport. Affiliated tissues include skin, bone and tongue, and related phenotypes are cardiovascular system and adipose tissue

NIH Rare Diseases : 50 classical ehlers-danlos syndrome is an inherited 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 changes (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 signs and symptoms. last updated: 4/20/2017

UniProtKB/Swiss-Prot : 66 Ehlers-Danlos syndrome, classic type: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity.

GeneReviews: NBK1244

Related Diseases for Ehlers-Danlos Syndrome, Classic Type

Diseases in the Classical-Like Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Classic Type Ehlers-Danlos Syndrome, Classic Type, Col1a1-Related
Ehlers-Danlos Syndrome, Classic Type, Col5a1-Related Ehlers-Danlos Syndrome, Classic Type, Col5a2-Related

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

(show top 50) (show all 55)
id Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, type iv 12.8
2 ehlers-danlos syndrome, classic type, col5a1-related 12.2
3 ehlers-danlos syndrome, classic type, col5a2-related 12.2
4 ehlers-danlos syndrome, classic type, col1a1-related 12.2
5 classic type lipoma 11.7
6 cutis laxa, ad 11.2
7 cutis laxa, autosomal recessive, type ia 11.2
8 cutis laxa, autosomal recessive, type ic 11.2
9 type i ehlers-danlos syndrome 11.0
10 ehlers-danlos syndrome type ii 11.0
11 ehlers-danlos syndrome due to tenascin x deficiency 10.8
12 ehlers-danlos syndrome 10.5
13 escobar syndrome 10.1 COL5A1 COL5A2
14 cngb3-related stargardt disease 1 10.1 COL1A1 COL1A2
15 isolated lissencephaly type 1 without known genetic defects 10.1 COL1A1 COL1A2
16 graves disease 2 10.1 COL5A1 COL5A2
17 charcot-marie-tooth neuropathy type 2a 10.1 COL1A1 COL1A2
18 prph2-related retinitis pigmentosa 10.1 COL1A1 COL1A2
19 20p13 microdeletion syndrome 10.1 COL1A1 COL1A2
20 epileptic encephalopathy, early infantile, 36 10.1 COL1A1 COL1A2
21 porphyria cutanea tarda 10.1 COL1A1 COL1A2
22 osteogenesis imperfecta, type iii 10.1 COL1A1 COL1A2
23 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 10.1 COL1A1 COL1A2
24 autism susceptibility 16 10.1 COL1A1 COL1A2
25 hypophosphatasia, childhood 10.1 COL1A1 DSPP
26 splenic flexure cancer 10.1 COL1A1 COL1A2
27 aggressive periodontitis 10.0 COL1A1 COL5A1 COL5A2
28 eng-related hereditary hemorrhagic telangiectasia 10.0 COL1A1 COL5A1 COL5A2
29 neuroschistosomiasis 10.0 COL1A2 DSPP
30 bone structure disease 10.0 COL1A1 COL1A2
31 localized hypertrophic neuropathy 10.0 COL1A2 COL3A1
32 von willebrand disease, type 1 10.0
33 cholesteatoma of attic 10.0 COL1A2 COL3A1
34 staphyloma posticum 10.0 COL3A1 COL5A1 COL5A2
35 diabetic neuropathy 9.9 COL1A1 COL1A2 DSPP
36 hypogonadotropic hypogonadism 2 with or without anosmia 9.9 COL1A1 COL3A1
37 neuropathy, distal hereditary motor, type iia 9.9 COL1A1 COL1A2 COL3A1
38 sclerocornea 9.9 COL1A1 COL1A2
39 phyh-related refsum disease 9.8 CD36 COL1A1 COL1A2
40 human herpesvirus 8 9.8 CD36 COL1A1 COL1A2
41 long qt syndrome 1 9.8 CD36 COL1A1 COL1A2
42 ceroid lipofuscinosis, neuronal, 11 9.8 CD36 COL1A1 COL1A2
43 agraphia 9.8 CD36 COL1A1 COL1A2
44 xanthinuria 9.8 CD36 COL1A1 COL1A2
45 deafness, autosomal recessive 61 9.8 CD36 COL1A1 COL1A2
46 mental retardation, autosomal recessive 35 9.8 CD36 COL1A1 COL1A2
47 ehlers-danlos syndrome, cardiac valvular form 9.8 CD36 COL1A1 COL1A2
48 clivus meningioma 9.8 COL1A1 COL1A2 COL3A1 COL5A1
49 factor xiiia deficiency 9.7 COL1A1 COL1A2 COL3A1 COL5A2
50 carnitine deficiency, systemic primary 9.7 CD36 COL1A1 COL1A2

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



Diseases related to Ehlers-Danlos Syndrome, Classic Type

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Classic Type

Symptoms by clinical synopsis from OMIM:

130000

Clinical features from OMIM:

130000

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

56 32 (show top 50) (show all 90)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Occasional (29-5%) HP:0012378
2 myalgia 56 32 Frequent (79-30%) HP:0003326
3 cachexia 56 32 Occasional (29-5%) HP:0004326
4 reduced consciousness/confusion 56 32 Occasional (29-5%) HP:0004372
5 muscle weakness 56 32 Frequent (79-30%) HP:0001324
6 joint dislocation 56 32 Frequent (79-30%) HP:0001373
7 osteoarthritis 56 32 Occasional (29-5%) HP:0002758
8 hypertension 56 32 Very frequent (99-80%) HP:0000822
9 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
10 hypotension 56 32 Very frequent (99-80%) HP:0002615
11 scoliosis 56 32 Frequent (79-30%) HP:0002650
12 kyphosis 56 32 Occasional (29-5%) HP:0002808
13 hyperlordosis 56 32 Very frequent (99-80%) HP:0003307
14 inguinal hernia 56 32 Occasional (29-5%) HP:0000023
15 dental malocclusion 56 32 Occasional (29-5%) HP:0000689
16 open bite 56 32 Occasional (29-5%) HP:0010807
17 wide nasal bridge 56 32 Occasional (29-5%) HP:0000431
18 pectus carinatum 56 32 Very frequent (99-80%) HP:0000768
19 umbilical hernia 56 32 Frequent (79-30%) HP:0001537
20 pes planus 56 32 Occasional (29-5%) HP:0001763
21 short stature 56 32 Occasional (29-5%) HP:0004322
22 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
23 acrocyanosis 56 32 Frequent (79-30%) HP:0001063
24 emphysema 56 32 Very frequent (99-80%) HP:0002097
25 aplasia/hypoplasia of the abdominal wall musculature 56 32 Frequent (79-30%) HP:0010318
26 joint hyperflexibility 56 32 Very frequent (99-80%) HP:0005692
27 epicanthus 56 32 Occasional (29-5%) HP:0000286
28 thin skin 56 32 Frequent (79-30%) HP:0000963
29 corneal dystrophy 56 32 Occasional (29-5%) HP:0001131
30 microdontia 56 32 Occasional (29-5%) HP:0000691
31 abnormal nasal morphology 56 32 Very frequent (99-80%) HP:0005105
32 high, narrow palate 56 32 Very frequent (99-80%) HP:0002705
33 atypical scarring of skin 56 32 Very frequent (99-80%) HP:0000987
34 arterial dissection 56 32 Very frequent (99-80%) HP:0005294
35 abnormality of the renal tubule 56 32 Occasional (29-5%) HP:0000091
36 migraine 56 32 Occasional (29-5%) HP:0002076
37 myopia 56 32 Occasional (29-5%) HP:0000545
38 glaucoma 56 32 Very frequent (99-80%) HP:0000501
39 retinal detachment 56 32 Occasional (29-5%) HP:0000541
40 hypoplasia of the ear cartilage 56 32 Frequent (79-30%) HP:0100720
41 striae distensae 56 32 Very frequent (99-80%) HP:0001065
42 arachnodactyly 56 32 Very frequent (99-80%) HP:0001166
43 dilatation of the ascending aorta 56 32 Occasional (29-5%) HP:0005111
44 narrow face 56 32 Frequent (79-30%) HP:0000275
45 ectopia lentis 56 32 Occasional (29-5%) HP:0001083
46 mitral valve prolapse 56 32 Frequent (79-30%) HP:0001634
47 asthma 56 32 Very frequent (99-80%) HP:0002099
48 reduced number of teeth 56 32 Occasional (29-5%) HP:0009804
49 erythema 56 32 Frequent (79-30%) HP:0010783
50 bruising susceptibility 56 32 Frequent (79-30%) HP:0000978

UMLS symptoms related to Ehlers-Danlos Syndrome, Classic Type:


back pain, muscle cramp, sciatica

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 CD36 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2 adipose tissue MP:0005375 9.56 CD36 COL1A1 COL1A2 COL3A1
3 growth/size/body region MP:0005378 9.43 CD36 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4 integument MP:0010771 9.02 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Classic Type

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

Genetic Tests for Ehlers-Danlos Syndrome, Classic Type

Genetic tests related to Ehlers-Danlos Syndrome, Classic Type:

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Classic Type 29 24 COL5A2

Anatomical Context for Ehlers-Danlos Syndrome, Classic Type

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

39
Skin, Bone, Tongue

Publications for Ehlers-Danlos Syndrome, Classic Type

Articles related to Ehlers-Danlos Syndrome, Classic Type:

id Title Authors Year
1
Ehlers-Danlos syndrome, classical type. ( 28192633 )
2017
2
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. ( 27292226 )
2016
3
Ehlers-Danlos syndrome (classic type): report of a case presenting with an unusual dental anomaly. ( 21968044 )
2011
4
Response to clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. ( 21217464 )
2011
5
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. ( 20847697 )
2010
6
Picture of the month. Ehlers-Danlos syndrome, classical type. ( 16818835 )
2006
7
Ehlers-Danlos syndrome, classical type: case management. ( 15624708 )
2004
8
Ehlers-Danlos Syndrome, classical type: case management. ( 14743836 )
2003
9
Ehlers-Danlos Syndrome, Classic Type ( 20301422 )
1993

Variations for Ehlers-Danlos Syndrome, Classic Type

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

66
id Symbol AA change Variation ID SNP ID
1 COL1A1 p.Arg312Cys VAR_013579
2 COL5A1 p.Cys1639Ser VAR_001808 rs80338764
3 COL5A1 p.Gly530Ser VAR_015412 rs61735045
4 COL5A1 p.Gly1489Asp VAR_015413
5 COL5A1 p.Leu25Pro VAR_057902
6 COL5A1 p.Leu25Arg VAR_057903
7 COL5A1 p.Gly1486Cys VAR_057909
8 COL5A2 p.Gly963Arg VAR_013588
9 COL5A2 p.Gly228Arg VAR_078424

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Classic Type:

6 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL5A1 NM_000093.4(COL5A1): c.3906+3G> T single nucleotide variant Pathogenic rs786200922 GRCh38 Chromosome 9, 134814039: 134814039
2 COL5A1 NM_000093.4(COL5A1): c.5370+3_5370+6delGAGT deletion Pathogenic rs786200923 GRCh38 Chromosome 9, 134835207: 134835210
3 COL5A1 NM_000093.4(COL5A1): c.4916G> C (p.Cys1639Ser) single nucleotide variant Pathogenic rs80338764 GRCh37 Chromosome 9, 137716663: 137716663
4 COL5A1 NM_000093.4(COL5A1): c.3259_3366del (p.Ser1088_Gly1123del) deletion Pathogenic
5 COL5A1 NM_000093.4(COL5A1): c.5137-11T> A single nucleotide variant Pathogenic rs183495554 GRCh38 Chromosome 9, 134834960: 134834960
6 COL5A1 NM_000093.4(COL5A1): c.2701-25T> G single nucleotide variant Pathogenic/Likely pathogenic rs765079080 GRCh38 Chromosome 9, 134795057: 134795057
7 COL5A1 NM_000093.4(COL5A1): c.4466G> A (p.Gly1489Glu) single nucleotide variant Pathogenic rs121912932 GRCh37 Chromosome 9, 137711981: 137711981
8 COL5A1 NM_000093.4(COL5A1): c.3752delC (p.Pro1251Argfs) deletion Pathogenic rs786205100 GRCh37 Chromosome 9, 137704458: 137704458
9 COL5A1 NM_000093.4(COL5A1): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121912933 GRCh37 Chromosome 9, 137666747: 137666747
10 COL5A1 NM_000093.4(COL5A1): c.655-2A> G single nucleotide variant Pathogenic rs786205101 GRCh37 Chromosome 9, 137619110: 137619110
11 COL5A1 NM_000093.4(COL5A1): c.4339-1delG deletion Pathogenic rs786205102 GRCh37 Chromosome 9, 137710693: 137710693
12 COL5A2 NM_000393.4(COL5A2): c.1924-2_1928delAGGGAGC deletion Pathogenic rs786205103 GRCh37 Chromosome 2, 189927640: 189927646
13 COL5A2 NM_000393.4(COL5A2): c.2031+1G> T single nucleotide variant Pathogenic rs786205104 GRCh37 Chromosome 2, 189926287: 189926287
14 COL5A2 NM_000393.4(COL5A2): c.3445G> C (p.Gly1149Arg) single nucleotide variant Pathogenic rs121912930 GRCh37 Chromosome 2, 189907903: 189907903
15 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
16 COL5A1 NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter) single nucleotide variant Pathogenic rs387906606 GRCh37 Chromosome 9, 137696890: 137696890
17 COL5A1 NM_000093.4(COL5A1): c.1663-1G> C single nucleotide variant Pathogenic rs794727114 GRCh37 Chromosome 9, 137644434: 137644434
18 COL5A1 NM_000093.4(COL5A1): c.3781G> A (p.Gly1261Arg) single nucleotide variant Likely pathogenic rs772445337 GRCh38 Chromosome 9, 134812641: 134812641
19 COL5A1 NM_000093.4(COL5A1): c.4184delC (p.Pro1395Glnfs) deletion Pathogenic rs794727760 GRCh38 Chromosome 9, 134817785: 134817785
20 COL5A1 NM_000093.4(COL5A1): c.406C> T (p.Pro136Ser) single nucleotide variant Likely pathogenic rs777625241 GRCh37 Chromosome 9, 137591883: 137591883
21 COL5A2 NM_000393.4(COL5A2): c.3309G> A (p.Pro1103=) single nucleotide variant Likely pathogenic rs878853978 GRCh38 Chromosome 2, 189045800: 189045800
22 COL5A1 NM_001278074.1(COL5A1): c.2034+1G> A single nucleotide variant Pathogenic rs886042173 GRCh37 Chromosome 9, 137655584: 137655584
23 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
24 COL5A1 NM_001278074.1(COL5A1): c.1207G> T (p.Glu403Ter) single nucleotide variant Pathogenic rs886043641 GRCh37 Chromosome 9, 137623384: 137623384
25 COL5A1 NM_000093.4(COL5A1): c.3762delT (p.Gly1255Alafs) deletion Pathogenic rs1057518653 GRCh38 Chromosome 9, 134812622: 134812622
26 COL5A1 NM_000093.4(COL5A1): c.2203dupC (p.Gln735Profs) duplication Pathogenic rs1057519596 GRCh37 Chromosome 9, 137659171: 137659171
27 COL5A1 NM_000093.4(COL5A1): c.4203delA (p.Gly1402Alafs) deletion Pathogenic rs1060502255 GRCh38 Chromosome 9, 134817804: 134817804
28 COL5A1 NM_000093.4(COL5A1): c.4232delG (p.Gly1411Glufs) deletion Pathogenic rs1060502259 GRCh38 Chromosome 9, 134818657: 134818657
29 COL5A1 NC_000009.12: g.(?_134701171)_(134835204_?)del deletion Pathogenic GRCh38 Chromosome 9, 134701171: 134835204
30 COL5A1 NM_000093.4(COL5A1): c.228_229delAG (p.Arg76Serfs) deletion Pathogenic rs1060502242 GRCh38 Chromosome 9, 134691030: 134691031
31 COL5A1 NM_000093.4(COL5A1): c.1075G> T (p.Glu359Ter) single nucleotide variant Pathogenic rs769752636 GRCh38 Chromosome 9, 134730386: 134730386
32 COL5A1 NM_000093.4(COL5A1): c.2143G> T (p.Gly715Ter) single nucleotide variant Pathogenic rs1060502258 GRCh38 Chromosome 9, 134767009: 134767009
33 COL5A1 NM_000093.4(COL5A1): c.2988delC (p.Gly997Alafs) deletion Pathogenic rs1060502256 GRCh37 Chromosome 9, 137693835: 137693835
34 COL5A1 NM_000093.4(COL5A1): c.5141_5143delCCT (p.Ser1714del) deletion Likely pathogenic rs1060502250 GRCh38 Chromosome 9, 134834975: 134834977
35 COL5A1 NM_000093.4(COL5A1): c.2430+1G> A single nucleotide variant Pathogenic rs1060502248 GRCh38 Chromosome 9, 134780147: 134780147

Expression for Ehlers-Danlos Syndrome, Classic Type

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

Pathways for Ehlers-Danlos Syndrome, Classic Type

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

(show all 20)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 CD36 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2
Show member pathways
13 CD36 COL1A1 COL1A2 COL3A1
3
Show member pathways
12.77 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4
Show member pathways
12.57 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5
Show member pathways
12.49 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6
Show member pathways
11.89 CD36 COL1A1 COL1A2
7 11.79 COL1A1 COL1A2 COL3A1
8
Show member pathways
11.75 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DSPP
9 11.68 COL1A1 COL1A2 COL3A1
10 11.65 COL1A1 COL1A2 COL3A1
11
Show member pathways
11.57 CD36 COL1A1 COL1A2 COL3A1
12 11.42 COL1A1 COL1A2 COL3A1
13 11.38 COL1A1 COL1A2
14 11.3 COL1A2 COL3A1
15 11.17 COL1A1 COL1A2
16 11.16 CD36 COL1A1 COL1A2 COL3A1
17 11.15 COL1A1 COL1A2
18 11.02 COL1A1 COL1A2 COL3A1
19 10.91 COL1A1 COL1A2
20 10.89 COL1A2 COL3A1 COL5A1 COL5A2

GO Terms for Ehlers-Danlos Syndrome, Classic Type

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DSPP
2 extracellular space GO:0005615 9.88 CD36 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
3 extracellular matrix GO:0031012 9.65 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4 endoplasmic reticulum lumen GO:0005788 9.55 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5 proteinaceous extracellular matrix GO:0005578 9.43 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DSPP
6 collagen type V trimer GO:0005588 9.37 COL5A1 COL5A2
7 collagen type I trimer GO:0005584 9.32 COL1A1 COL1A2
8 collagen trimer GO:0005581 9.1 CD36 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.74 COL1A1 COL1A2 COL3A1
2 blood coagulation GO:0007596 9.73 CD36 COL1A1 COL1A2
3 cellular response to amino acid stimulus GO:0071230 9.71 COL1A1 COL1A2 COL3A1 COL5A2
4 platelet activation GO:0030168 9.7 COL1A1 COL1A2 COL3A1
5 ossification GO:0001503 9.67 COL1A1 COL5A2 DSPP
6 blood vessel development GO:0001568 9.67 COL1A1 COL1A2 COL3A1 COL5A1
7 skeletal system development GO:0001501 9.65 COL1A1 COL1A2 COL3A1 COL5A2 DSPP
8 skin development GO:0043588 9.62 COL1A1 COL3A1 COL5A1 COL5A2
9 wound healing GO:0042060 9.59 COL1A1 COL3A1
10 transforming growth factor beta receptor signaling pathway GO:0007179 9.58 COL1A2 COL3A1
11 response to mechanical stimulus GO:0009612 9.58 COL1A1 COL3A1
12 supramolecular fiber organization GO:0097435 9.55 COL3A1 COL5A1
13 collagen catabolic process GO:0030574 9.55 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
14 protein heterotrimerization GO:0070208 9.54 COL1A1 COL1A2
15 skin morphogenesis GO:0043589 9.51 COL1A1 COL1A2
16 collagen biosynthetic process GO:0032964 9.48 COL1A1 COL5A1
17 eye morphogenesis GO:0048592 9.46 COL5A1 COL5A2
18 negative regulation of endodermal cell differentiation GO:1903225 9.43 COL5A1 COL5A2
19 extracellular matrix organization GO:0030198 9.43 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DSPP
20 collagen fibril organization GO:0030199 9.02 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

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

id Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.43 COL1A1 COL1A2 COL3A1
2 SMAD binding GO:0046332 9.33 COL1A2 COL3A1 COL5A2
3 platelet-derived growth factor binding GO:0048407 9.26 COL1A1 COL1A2 COL3A1 COL5A1
4 extracellular matrix structural constituent GO:0005201 9.1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DSPP

Sources for Ehlers-Danlos Syndrome, Classic Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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