EDSCL1
MCID: EHL073
MIFTS: 49

Ehlers-Danlos Syndrome, Classic Type, 1 (EDSCL1)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Classic Type, 1

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Classic Type, 1:

Name: Ehlers-Danlos Syndrome, Classic Type, 1 58 76
Ehlers-Danlos Syndrome, Type I 76 13 56
Edscl1 58 76
Ehlers-Danlos Syndrome, Type I, Formerly; Eds1, Formerly 58
Ehlers-Danlos Syndrome, Severe Classic Type, Formerly 58
Ehlers-Danlos Syndrome, Gravis Type, Formerly 58
Ehlers-Danlos Syndrome, Severe Classic Type 76
Ehlers-Danlos Syndrome, Type I, Formerly 58
Ehlers-Danlos Syndrome, Gravis Type 76
Ehlers-Danlos Syndrome Type 2 74
Ehlers-Danlos Syndrome Type 1 74
Ehlers-Danlos Syndrome 1 76
Eds I, Formerly 58
Eds1, Formerly 58
Eds I 76
Eds1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated patients with classic eds and a mutation in col1a1 has been reported


HPO:

33
ehlers-danlos syndrome, classic type, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Classic Type, 1

UniProtKB/Swiss-Prot : 76 Ehlers-Danlos syndrome, classic type, 1: 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. EDSCL1 inheritance is autosomal dominant.

MalaCards based summary : Ehlers-Danlos Syndrome, Classic Type, 1, also known as ehlers-danlos syndrome, type i, is related to ehlers-danlos syndrome, classic type, 2 and classic ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Classic Type, 1 is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drugs Clindamycin and Rifampicin have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are joint dislocation and osteoarthritis

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). (130000)

Related Diseases for Ehlers-Danlos Syndrome, Classic Type, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 2 30.8 COL1A1 COL3A1 COL5A1 COL5A2
2 classic ehlers-danlos syndrome 29.9 COL1A1 COL1A2 COL5A1 COL5A2
3 ehlers-danlos syndrome 29.8 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4 type i ehlers-danlos syndrome 11.1
5 bladder diverticulum 10.1
6 caspase 8 deficiency 10.1 COL5A1 COL5A2
7 osteogenesis imperfecta, type i 10.0 COL1A1 COL1A2
8 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A1 COL1A2
9 high bone mass osteogenesis imperfecta 10.0 COL1A1 COL1A2
10 osteogenesis imperfecta, type vii 10.0 COL1A1 COL1A2
11 osteogenesis imperfecta, type viii 10.0 COL1A1 COL1A2
12 osteogenesis imperfecta, type v 10.0 COL1A1 COL1A2
13 scleroderma, familial progressive 10.0 COL1A1 COL1A2
14 caffey disease 10.0 COL1A1 COL1A2
15 otosclerosis 9.9 COL1A1 COL1A2
16 dental fluorosis 9.9 COL1A2 DSPP
17 osteogenesis imperfecta, type ii 9.9 COL1A1 COL1A2
18 ehlers-danlos syndrome, vascular type 9.9 COL3A1 COL5A1
19 osteogenesis imperfecta, type iii 9.9 COL1A1 COL1A2
20 hypermobility syndrome 9.9 COL3A1 COL5A1
21 bruck syndrome 9.9 COL1A1 COL1A2
22 bone development disease 9.9 COL1A1 COL1A2
23 pelvic organ prolapse 9.8 COL1A1 COL3A1
24 lipoblastoma 9.8 COL1A2 COL3A1
25 osteogenesis imperfecta, type iv 9.7 COL1A1 COL1A2 DSPP
26 dentinogenesis imperfecta 9.7 COL1A1 COL1A2 DSPP
27 loeys-dietz syndrome 9.6 COL3A1 COL5A2
28 intracranial aneurysm 9.6 COL1A2 COL3A1
29 spondyloepiphyseal dysplasia congenita 9.6 COL1A1 COL1A2 COL3A1
30 pfeiffer syndrome 9.5 COL1A1 COL3A1
31 marfan syndrome 9.5 COL1A2 COL3A1 COL5A2
32 connective tissue disease 9.3 COL1A1 COL1A2 COL3A1 COL5A1
33 larsen-like syndrome 9.3 COL1A1 COL1A2 COL3A1 COL5A2
34 brittle bone disorder 9.3 COL1A1 COL1A2 COL3A1 DSPP
35 collagen disease 9.0 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Classic Type, 1:



Diseases related to Ehlers-Danlos Syndrome, Classic Type, 1

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Classic Type, 1

Human phenotypes related to Ehlers-Danlos Syndrome, Classic Type, 1:

33 (show all 29)
# Description HPO Frequency HPO Source Accession
1 joint dislocation 33 HP:0001373
2 osteoarthritis 33 HP:0002758
3 inguinal hernia 33 HP:0000023
4 umbilical hernia 33 HP:0001537
5 pes planus 33 HP:0001763
6 short stature 33 HP:0004322
7 epicanthus 33 HP:0000286
8 myopia 33 HP:0000545
9 mitral valve prolapse 33 HP:0001634
10 ectopia lentis 33 HP:0001083
11 bruising susceptibility 33 HP:0000978
12 blue sclerae 33 HP:0000592
13 hyperextensible skin 33 HP:0000974
14 poor wound healing 33 HP:0001058
15 lop ear 33 HP:0000394
16 infantile muscular hypotonia 33 HP:0008947
17 cigarette-paper scars 33 HP:0001073
18 hyperextensibility of the finger joints 33 HP:0001187
19 soft skin 33 HP:0000977
20 narrow maxilla 33 HP:0002010
21 hyperextensibility at elbow 33 HP:0010485
22 irregularly spaced teeth 33 HP:0006316
23 fragile skin 33 HP:0001030
24 bowel diverticulosis 33 HP:0005222
25 molluscoid pseudotumors 33 HP:0000993
26 premature birth following premature rupture of fetal membranes 33 HP:0005100
27 aortic root aneurysm 33 HP:0002616
28 hyperextensibility of the knee 33 HP:0010500
29 subcutaneous spheroids 33 HP:0025014

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteoarthritis

Skeletal Feet:
pes planus

Head And Neck Eyes:
myopia
ectopia lentis
blue sclerae
epicanthal folds

Skeletal Limbs:
joint hypermobility
joint dislocation (hip, shoulder, elbow, knee, or clavicle)

Head And Neck Face:
narrow maxilla

Head And Neck Mouth:
small, irregularly placed teeth

Neurologic Central Nervous System:
hypotonia in infancy

Abdomen External Features:
inguinal hernia
umbilical hernia

Growth Height:
short stature

Cardiovascular Heart:
mitral valve prolapse
aortic root dilatation

Skin Nails Hair Skin:
poor wound healing
cigarette-paper scars
fragile skin
easy bruisability
dystrophic scarring
more
Head And Neck Ears:
hypermobile
lop ears

Abdomen Gastrointestinal:
spontaneous bowel rupture
bowel diverticula

Prenatal Manifestations Delivery:
premature birth following premature rupture of fetal membranes

Clinical features from OMIM:

130000

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Classic Type, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2 integument MP:0010771 9.02 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Classic Type, 1

Drugs for Ehlers-Danlos Syndrome, Classic Type, 1 (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 Antibiotics, Antitubercular Phase 3
5 Clindamycin phosphate Phase 3
6 Clindamycin palmitate Phase 3
7 Antitubercular Agents Phase 3
8 Anti-Infective Agents 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, 1

Genetic Tests for Ehlers-Danlos Syndrome, Classic Type, 1

Anatomical Context for Ehlers-Danlos Syndrome, Classic Type, 1

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Classic Type, 1:

42
Skin, Bone

Publications for Ehlers-Danlos Syndrome, Classic Type, 1

Articles related to Ehlers-Danlos Syndrome, Classic Type, 1:

(show all 12)
# Title Authors Year
1
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. ( 12145749 )
2002
2
Ehlers-Danlos syndrome type I in pregnancy: a case report. ( 11604202 )
2001
3
Giant bladder diverticulum in Ehlers-Danlos syndrome type I causing outflow obstruction. ( 9861737 )
1998
4
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. ( 9425231 )
1998
5
The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. ( 8752669 )
1996
6
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). ( 8923000 )
1996
7
Ehlers Danlos syndrome type I with novel dental features. ( 1432737 )
1992
8
Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family. ( 1684560 )
1991
9
Morphometric study of cauliflower collagen fibrils in Ehlers-Danlos syndrome type I. ( 3224502 )
1988
10
Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III. ( 3651336 )
1987
11
Presumed homozygous Ehlers-Danlos syndrome type I in a highly inbred kindred. ( 6237581 )
1984
12
Connective tissue metabolism in culture fibroblasts of a patient with Ehlers-Danlos syndrome type I. ( 1008609 )
1976

Variations for Ehlers-Danlos Syndrome, Classic Type, 1

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Classic Type, 1:

76
# 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

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Classic Type, 1:

6 (show top 50) (show all 1661)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL5A1 NM_000093.4(COL5A1): c.3906+3G> T single nucleotide variant Pathogenic rs786200922 GRCh37 Chromosome 9, 137705885: 137705885
2 COL5A1 NM_000093.4(COL5A1): c.3906+3G> T single nucleotide variant Pathogenic rs786200922 GRCh38 Chromosome 9, 134814039: 134814039
3 COL5A1 NM_000093.4(COL5A1): c.5370+3_5370+6delGAGT deletion Pathogenic rs786200923 GRCh37 Chromosome 9, 137727053: 137727056
4 COL5A1 NM_000093.4(COL5A1): c.5370+3_5370+6delGAGT deletion Pathogenic rs786200923 GRCh38 Chromosome 9, 134835207: 134835210
5 COL5A1 NM_000093.4(COL5A1): c.4916G> C (p.Cys1639Ser) single nucleotide variant Pathogenic rs80338764 GRCh37 Chromosome 9, 137716663: 137716663
6 COL5A1 NM_000093.4(COL5A1): c.4916G> C (p.Cys1639Ser) single nucleotide variant Pathogenic rs80338764 GRCh38 Chromosome 9, 134824817: 134824817
7 COL5A1 NM_000093.4(COL5A1): c.3259_3366del (p.Ser1088_Gly1123del) deletion Pathogenic
8 COL5A1 NM_000093.4(COL5A1): c.5137-11T> A single nucleotide variant Pathogenic rs183495554 GRCh38 Chromosome 9, 134834960: 134834960
9 COL5A1 NM_000093.4(COL5A1): c.5137-11T> A single nucleotide variant Pathogenic rs183495554 GRCh37 Chromosome 9, 137726806: 137726806
10 COL5A1 NM_000093.4(COL5A1): c.2701-25T> G single nucleotide variant Pathogenic rs765079080 GRCh38 Chromosome 9, 134795057: 134795057
11 COL5A1 NM_000093.4(COL5A1): c.2701-25T> G single nucleotide variant Pathogenic rs765079080 GRCh37 Chromosome 9, 137686903: 137686903
12 COL5A1 NM_000093.4(COL5A1): c.4466G> A (p.Gly1489Glu) single nucleotide variant Pathogenic rs121912932 GRCh37 Chromosome 9, 137711981: 137711981
13 COL5A1 NM_000093.4(COL5A1): c.4466G> A (p.Gly1489Glu) single nucleotide variant Pathogenic rs121912932 GRCh38 Chromosome 9, 134820135: 134820135
14 COL5A1 NM_000093.4(COL5A1): c.3752delC (p.Pro1251Argfs) deletion Pathogenic rs786205100 GRCh37 Chromosome 9, 137704458: 137704458
15 COL5A1 NM_000093.4(COL5A1): c.3752delC (p.Pro1251Argfs) deletion Pathogenic rs786205100 GRCh38 Chromosome 9, 134812612: 134812612
16 COL5A1 NM_000093.4(COL5A1): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121912933 GRCh37 Chromosome 9, 137666747: 137666747
17 COL5A1 NM_000093.4(COL5A1): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121912933 GRCh38 Chromosome 9, 134774901: 134774901
18 COL5A1 NM_000093.4(COL5A1): c.655-2A> G single nucleotide variant Pathogenic rs786205101 GRCh37 Chromosome 9, 137619110: 137619110
19 COL5A1 NM_000093.4(COL5A1): c.655-2A> G single nucleotide variant Pathogenic rs786205101 GRCh38 Chromosome 9, 134727264: 134727264
20 COL5A1 NM_000093.4(COL5A1): c.4339-1delG deletion Pathogenic rs786205102 GRCh37 Chromosome 9, 137710693: 137710693
21 COL5A1 NM_000093.4(COL5A1): c.4339-1delG deletion Pathogenic rs786205102 GRCh38 Chromosome 9, 134818847: 134818847
22 COL5A2 NM_000393.4(COL5A2): c.1924-2_1928del deletion Pathogenic rs786205103 GRCh37 Chromosome 2, 189927640: 189927646
23 COL5A2 NM_000393.4(COL5A2): c.1924-2_1928del deletion Pathogenic rs786205103 GRCh38 Chromosome 2, 189062914: 189062920
24 COL5A2 NM_000393.4(COL5A2): c.2031+1G> T single nucleotide variant Pathogenic rs786205104 GRCh37 Chromosome 2, 189926287: 189926287
25 COL5A2 NM_000393.4(COL5A2): c.2031+1G> T single nucleotide variant Pathogenic rs786205104 GRCh38 Chromosome 2, 189061561: 189061561
26 COL5A2 NM_000393.4(COL5A2): c.3445G> C (p.Gly1149Arg) single nucleotide variant Pathogenic rs121912930 GRCh37 Chromosome 2, 189907903: 189907903
27 COL5A2 NM_000393.4(COL5A2): c.3445G> C (p.Gly1149Arg) single nucleotide variant Pathogenic rs121912930 GRCh38 Chromosome 2, 189043177: 189043177
28 COL1A2 NM_000089.3(COL1A2): c.279+2T> C single nucleotide variant Pathogenic rs72656357 GRCh37 Chromosome 7, 94030934: 94030934
29 COL1A2 NM_000089.3(COL1A2): c.279+2T> C single nucleotide variant Pathogenic rs72656357 GRCh38 Chromosome 7, 94401622: 94401622
30 COL1A2 NM_000089.3(COL1A2): c.2123G> A (p.Arg708Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72658163 GRCh37 Chromosome 7, 94049588: 94049588
31 COL1A2 NM_000089.3(COL1A2): c.2123G> A (p.Arg708Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs72658163 GRCh38 Chromosome 7, 94420276: 94420276
32 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
33 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh38 Chromosome 17, 50196337: 50196337
34 COL5A1 NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter) single nucleotide variant Pathogenic rs387906606 GRCh37 Chromosome 9, 137696890: 137696890
35 COL5A1 NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter) single nucleotide variant Pathogenic rs387906606 GRCh38 Chromosome 9, 134805044: 134805044
36 COL1A2 NM_000089.3(COL1A2): c.1295G> A (p.Arg432Gln) single nucleotide variant Uncertain significance rs139446305 GRCh37 Chromosome 7, 94040411: 94040411
37 COL1A2 NM_000089.3(COL1A2): c.1295G> A (p.Arg432Gln) single nucleotide variant Uncertain significance rs139446305 GRCh38 Chromosome 7, 94411099: 94411099
38 COL1A2 NM_000089.3(COL1A2): c.1383C> T (p.Pro461=) single nucleotide variant Benign/Likely benign rs139726213 GRCh37 Chromosome 7, 94041412: 94041412
39 COL1A2 NM_000089.3(COL1A2): c.1383C> T (p.Pro461=) single nucleotide variant Benign/Likely benign rs139726213 GRCh38 Chromosome 7, 94412100: 94412100
40 COL1A2 NM_000089.3(COL1A2): c.2082C> A (p.Gly694=) single nucleotide variant Likely benign rs193229878 GRCh37 Chromosome 7, 94049547: 94049547
41 COL1A2 NM_000089.3(COL1A2): c.2082C> A (p.Gly694=) single nucleotide variant Likely benign rs193229878 GRCh38 Chromosome 7, 94420235: 94420235
42 COL1A2 NM_000089.3(COL1A2): c.2700C> T (p.Ala900=) single nucleotide variant Benign/Likely benign rs141688356 GRCh37 Chromosome 7, 94054455: 94054455
43 COL1A2 NM_000089.3(COL1A2): c.2700C> T (p.Ala900=) single nucleotide variant Benign/Likely benign rs141688356 GRCh38 Chromosome 7, 94425143: 94425143
44 COL1A2 NM_000089.3(COL1A2): c.3018C> T (p.Gly1006=) single nucleotide variant Benign/Likely benign rs62001059 GRCh37 Chromosome 7, 94055755: 94055755
45 COL1A2 NM_000089.3(COL1A2): c.3018C> T (p.Gly1006=) single nucleotide variant Benign/Likely benign rs62001059 GRCh38 Chromosome 7, 94426443: 94426443
46 COL1A2 NM_000089.3(COL1A2): c.3336C> T (p.Tyr1112=) single nucleotide variant Benign/Likely benign rs34691365 GRCh37 Chromosome 7, 94057007: 94057007
47 COL1A2 NM_000089.3(COL1A2): c.3336C> T (p.Tyr1112=) single nucleotide variant Benign/Likely benign rs34691365 GRCh38 Chromosome 7, 94427695: 94427695
48 COL1A2 NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser) single nucleotide variant Pathogenic rs72656387 GRCh37 Chromosome 7, 94038679: 94038679
49 COL1A2 NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser) single nucleotide variant Pathogenic rs72656387 GRCh38 Chromosome 7, 94409367: 94409367
50 COL1A2 NM_000089.3(COL1A2): c.948C> T (p.Gly316=) single nucleotide variant Benign/Likely benign rs34511999 GRCh37 Chromosome 7, 94039046: 94039046

Expression for Ehlers-Danlos Syndrome, Classic Type, 1

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Classic Type, 1.

Pathways for Ehlers-Danlos Syndrome, Classic Type, 1

Pathways related to Ehlers-Danlos Syndrome, Classic Type, 1 according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.47 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2
Show member pathways
13.08 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
3
Show member pathways
12.72 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4
Show member pathways
12.53 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5
Show member pathways
12.28 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
6
Show member pathways
11.82 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
7 11.81 COL1A1 COL1A2 COL3A1
8
Show member pathways
11.75 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DSPP
9
Show member pathways
11.72 COL1A1 COL1A2 COL3A1
10 11.69 COL1A1 COL1A2 COL3A1
11 11.65 COL1A1 COL1A2 COL3A1
12 11.63 COL1A1 COL3A1
13 11.44 COL1A1 COL1A2 COL3A1
14 11.39 COL1A1 COL1A2
15 11.34 COL1A1 COL1A2 COL3A1
16 11.31 COL1A2 COL3A1
17 11.18 COL1A1 COL1A2
18 11.16 COL1A1 COL1A2
19 11.1 COL1A1 COL1A2 COL3A1
20 10.92 COL1A1 COL1A2
21 10.89 COL1A2 COL3A1 COL5A1 COL5A2
22 10.56 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

GO Terms for Ehlers-Danlos Syndrome, Classic Type, 1

Cellular components related to Ehlers-Danlos Syndrome, Classic Type, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.88 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DSPP
2 extracellular space GO:0005615 9.83 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
3 endoplasmic reticulum lumen GO:0005788 9.65 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4 collagen-containing extracellular matrix GO:0062023 9.55 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5 collagen type V trimer GO:0005588 9.37 COL5A1 COL5A2
6 collagen trimer GO:0005581 9.35 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
7 collagen type I trimer GO:0005584 9.32 COL1A1 COL1A2
8 extracellular matrix GO:0031012 9.1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DSPP

Biological processes related to Ehlers-Danlos Syndrome, Classic Type, 1 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.73 COL1A1 COL1A2 COL3A1
2 platelet activation GO:0030168 9.67 COL1A1 COL1A2 COL3A1
3 cellular response to amino acid stimulus GO:0071230 9.67 COL1A1 COL1A2 COL3A1 COL5A2
4 ossification GO:0001503 9.65 COL1A1 COL5A2 DSPP
5 response to mechanical stimulus GO:0009612 9.63 COL1A1 COL3A1 DSPP
6 blood vessel development GO:0001568 9.62 COL1A1 COL1A2 COL3A1 COL5A1
7 transforming growth factor beta receptor signaling pathway GO:0007179 9.58 COL1A2 COL3A1
8 wound healing GO:0042060 9.57 COL1A1 COL3A1
9 skin development GO:0043588 9.56 COL1A1 COL3A1 COL5A1 COL5A2
10 protein heterotrimerization GO:0070208 9.55 COL1A1 COL1A2
11 skeletal system development GO:0001501 9.55 COL1A1 COL1A2 COL3A1 COL5A2 DSPP
12 supramolecular fiber organization GO:0097435 9.54 COL3A1 COL5A1
13 collagen biosynthetic process GO:0032964 9.52 COL1A1 COL5A1
14 skin morphogenesis GO:0043589 9.51 COL1A1 COL1A2
15 eye morphogenesis GO:0048592 9.43 COL5A1 COL5A2
16 extracellular matrix organization GO:0030198 9.43 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DSPP
17 negative regulation of endodermal cell differentiation GO:1903225 9.4 COL5A1 COL5A2
18 collagen fibril organization GO:0030199 9.02 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

Molecular functions related to Ehlers-Danlos Syndrome, Classic Type, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.77 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2 protease binding GO:0002020 9.5 COL1A1 COL1A2 COL3A1
3 platelet-derived growth factor binding GO:0048407 9.46 COL1A1 COL1A2 COL3A1 COL5A1
4 SMAD binding GO:0046332 9.43 COL1A2 COL3A1 COL5A2
5 integrin binding GO:0005178 9.4 COL3A1 COL5A1
6 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.35 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
7 extracellular matrix structural constituent GO:0005201 9.1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DSPP

Sources for Ehlers-Danlos Syndrome, Classic Type, 1

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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