EDS
MCID: EHL073
MIFTS: 56

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

Categories: Genetic diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases, Rare 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 57
Ehlers-Danlos Syndrome, Type Ii 75 13 55
Ehlers-Danlos Syndrome, Type I 75 13 55
Ehlers-Danlos Syndrome, Classic Type 59 75
Ehlers-Danlos Syndrome Type 1 59 73
Eds I 59 75
Ehlers-Danlos Syndrome, Type I, Formerly; Eds1, Formerly 57
Ehlers-Danlos Syndrome, Severe Classic Type, Formerly 57
Ehlers-Danlos Syndrome, Gravis Type, Formerly 57
Ehlers-Danlos Syndrome, Severe Classic Type 75
Ehlers Danlos Syndrome, Mild Classic Type 75
Ehlers-Danlos Syndrome, Type I, Formerly 57
Ehlers-Danlos Syndrome, Gravis Type 75
Ehlers Danlos Syndrome, Mitis Type 75
Ehlers-Danlos Syndrome, Type 2 6
Ehlers-Danlos Syndrome Type 2 73
Ehlers-Danlos Syndrome 1 75
Eds, Classic Type 59
Eds I, Formerly 57
Eds1, Formerly 57
Edscl1 57
Eds Ii 75
Eds1 75
Eds2 75
Eds 75

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome, classic type
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal;
ehlers-danlos syndrome type 1
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
ehlers-danlos syndrome, classic type, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Classic Type, 1

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). (130000)

MalaCards based summary : Ehlers-Danlos Syndrome, Classic Type, 1, also known as ehlers-danlos syndrome, type ii, is related to ehlers-danlos syndrome, classic type, 2 and ehlers-danlos syndrome, classic type. 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 Integrin Pathway and Vesicle-mediated transport. The drugs Clindamycin and Rifampicin have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are pectus excavatum and joint dislocation

UniProtKB/Swiss-Prot : 75 Ehlers-Danlos syndrome, classic type: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity.

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

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 2 33.3 COL1A1 COL5A1 COL5A2
2 ehlers-danlos syndrome, classic type 32.8 COL1A1 COL1A2 COL5A1 COL5A2
3 ehlers-danlos syndrome 28.7 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4 type i ehlers-danlos syndrome 11.4
5 ehlers-danlos/osteogenesis imperfecta syndrome 10.2 COL1A1 COL1A2
6 high bone mass osteogenesis imperfecta 10.2 COL1A1 COL1A2
7 caspase 8 deficiency 10.2 COL5A1 COL5A2
8 osteogenesis imperfecta, type viii 10.1 COL1A1 COL1A2
9 ehlers-danlos syndrome, vascular type 10.1 COL3A1 COL5A1
10 von willebrand disease, type 1 10.0
11 von willebrand's disease 10.0
12 ehlers-danlos syndrome, hypermobility type 10.0 COL1A1 COL3A1
13 bone development disease 10.0 COL1A1 COL1A2
14 dental fluorosis 9.9 COL1A2 DSPP
15 pelvic organ prolapse 9.9 COL1A1 COL3A1
16 lipoblastoma 9.8 COL1A2 COL3A1
17 loeys-dietz syndrome 9.7 COL3A1 COL5A2
18 intracranial aneurysm 9.7 COL1A2 COL3A1
19 hypermobility syndrome 9.7 COL3A1 COL5A1 COL5A2
20 dentinogenesis imperfecta 9.6 COL1A1 COL1A2 DSPP
21 pfeiffer syndrome 9.6 COL1A1 COL3A1
22 spondyloepiphyseal dysplasia congenita 9.5 COL1A1 COL1A2 COL3A1
23 marfan syndrome 9.4 COL1A2 COL3A1 COL5A2
24 osteogenesis imperfecta, type vii 9.3 CD36 COL1A1 COL1A2
25 scleroderma, familial progressive 9.3 CD36 COL1A1 COL1A2
26 caffey disease 9.3 CD36 COL1A1 COL1A2
27 osteogenesis imperfecta, type v 9.3 CD36 COL1A1 COL1A2
28 bruck syndrome 9.3 CD36 COL1A1 COL1A2
29 osteogenesis imperfecta, type ii 9.2 CD36 COL1A1 COL1A2
30 osteogenesis imperfecta, type iii 9.2 CD36 COL1A1 COL1A2
31 osteogenesis imperfecta, type i 9.2 CD36 COL1A1 COL1A2
32 otosclerosis 9.2 CD36 COL1A1 COL1A2
33 connective tissue disease 9.1 COL1A1 COL1A2 COL3A1 COL5A1
34 larsen-like syndrome 9.0 COL1A1 COL1A2 COL3A1 COL5A2
35 osteogenesis imperfecta, type iv 8.7 CD36 COL1A1 COL1A2 DSPP
36 collagen disease 8.6 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
37 osteoporosis 8.5 CD36 COL1A1 COL1A2
38 brittle bone disorder 8.0 CD36 COL1A1 COL1A2 COL3A1 DSPP

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteoarthritis

Skeletal Feet:
pes planus

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

Cardiovascular Heart:
mitral valve prolapse
aortic root dilatation

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

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

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

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

59 32 (show top 50) (show all 109)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
2 joint dislocation 59 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0001373
3 osteoarthritis 59 32 Occasional (29-5%) HP:0002758
4 hypertension 59 32 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0000822
5 scoliosis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002650
6 inguinal hernia 59 32 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0000023
7 pectus carinatum 59 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000768
8 umbilical hernia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001537
9 pes planus 59 32 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001763
10 short stature 59 32 Occasional (29-5%) HP:0004322
11 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
12 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005692
13 epicanthus 59 32 Occasional (29-5%) HP:0000286
14 thin skin 59 32 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0000963
15 genu recurvatum 59 32 frequent (33%) Frequent (79-30%) HP:0002816
16 myopia 59 32 Occasional (29-5%) HP:0000545
17 aortic dissection 59 32 occasional (7.5%) Occasional (29-5%) HP:0002647
18 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000541
19 ectopia lentis 59 32 Occasional (29-5%) HP:0001083
20 mitral valve prolapse 59 32 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0001634
21 varicose veins 59 32 frequent (33%) Frequent (79-30%) HP:0002619
22 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000978
23 recurrent urinary tract infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0000010
24 bladder diverticulum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000015
25 hallux valgus 59 32 frequent (33%) Frequent (79-30%) HP:0001822
26 blue sclerae 59 32 Occasional (29-5%) HP:0000592
27 hyperextensible skin 59 32 Very frequent (99-80%) HP:0000974
28 congenital diaphragmatic hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000776
29 peritonitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002586
30 atrophic scars 59 32 hallmark (90%) Very frequent (99-80%) HP:0001075
31 femoral hernia 59 32 frequent (33%) Frequent (79-30%) HP:0100541
32 soft skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000977
33 muscular hypotonia 59 Occasional (29-5%)
34 muscle weakness 59 Frequent (79-30%)
35 hypotension 59 Very frequent (99-80%)
36 kyphosis 59 Occasional (29-5%)
37 hyperlordosis 59 Very frequent (99-80%)
38 dental malocclusion 59 Occasional (29-5%)
39 open bite 59 Occasional (29-5%)
40 wide nasal bridge 59 Occasional (29-5%)
41 reduced consciousness/confusion 59 Occasional (29-5%)
42 cognitive impairment 59 Occasional (29-5%)
43 fatigue 59 Occasional (29-5%)
44 acrocyanosis 59 Frequent (79-30%)
45 emphysema 59 Very frequent (99-80%)
46 aplasia/hypoplasia of the abdominal wall musculature 59 Frequent (79-30%)
47 abnormality of the heart valves 59 Occasional (29-5%)
48 hernia 59 Frequent (79-30%)
49 corneal dystrophy 59 Occasional (29-5%)
50 microdontia 59 Occasional (29-5%)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 CD36 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2 growth/size/body region MP:0005378 9.63 CD36 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
3 adipose tissue MP:0005375 9.62 CD36 COL1A1 COL1A2 COL3A1
4 integument MP:0010771 9.35 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5 mortality/aging MP:0010768 9.1 COL1A2 COL3A1 COL5A1 COL5A2 CD36 COL1A1

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 5458213 5381226
3 Anti-Bacterial Agents Phase 3
4 Antibiotics, Antitubercular Phase 3
5 Anti-Infective Agents 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, 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:

41
Skin, Bone, Heart, Tongue, Pancreas

Publications for Ehlers-Danlos Syndrome, Classic Type, 1

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

(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, 1

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

75
# 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, 1:

6
(show top 50) (show all 1206)
# 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_1928delAGGGAGC deletion Pathogenic rs786205103 GRCh37 Chromosome 2, 189927640: 189927646
23 COL5A2 NM_000393.4(COL5A2): c.1924-2_1928delAGGGAGC 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 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
31 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh38 Chromosome 17, 50196337: 50196337
32 COL5A1 NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter) single nucleotide variant Pathogenic rs387906606 GRCh37 Chromosome 9, 137696890: 137696890
33 COL5A1 NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter) single nucleotide variant Pathogenic rs387906606 GRCh38 Chromosome 9, 134805044: 134805044
34 COL1A2 NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser) single nucleotide variant Pathogenic rs72656387 GRCh37 Chromosome 7, 94038679: 94038679
35 COL1A2 NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser) single nucleotide variant Pathogenic rs72656387 GRCh38 Chromosome 7, 94409367: 94409367
36 COL5A2 NM_000393.4(COL5A2): c.1976C> T (p.Pro659Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145404046 GRCh37 Chromosome 2, 189927592: 189927592
37 COL5A2 NM_000393.4(COL5A2): c.1976C> T (p.Pro659Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145404046 GRCh38 Chromosome 2, 189062866: 189062866
38 COL5A2 NM_000393.4(COL5A2): c.3471+8A> T single nucleotide variant Conflicting interpretations of pathogenicity rs367643805 GRCh37 Chromosome 2, 189907869: 189907869
39 COL5A2 NM_000393.4(COL5A2): c.3471+8A> T single nucleotide variant Conflicting interpretations of pathogenicity rs367643805 GRCh38 Chromosome 2, 189043143: 189043143
40 COL5A2 NM_000393.4(COL5A2): c.2011C> T (p.Pro671Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs139189200 GRCh37 Chromosome 2, 189926308: 189926308
41 COL5A2 NM_000393.4(COL5A2): c.2011C> T (p.Pro671Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs139189200 GRCh38 Chromosome 2, 189061582: 189061582
42 COL5A1 NM_000093.4(COL5A1): c.514G> T (p.Val172Phe) single nucleotide variant Uncertain significance rs150147262 GRCh38 Chromosome 9, 134701193: 134701193
43 COL5A1 NM_000093.4(COL5A1): c.514G> T (p.Val172Phe) single nucleotide variant Uncertain significance rs150147262 GRCh37 Chromosome 9, 137593039: 137593039
44 COL5A1 NM_000093.4(COL5A1): c.5350G> A (p.Ala1784Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143859495 GRCh38 Chromosome 9, 134835184: 134835184
45 COL5A1 NM_000093.4(COL5A1): c.5350G> A (p.Ala1784Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143859495 GRCh37 Chromosome 9, 137727030: 137727030
46 COL5A1 NM_000093.4(COL5A1): c.1663-1G> C single nucleotide variant Pathogenic rs794727114 GRCh37 Chromosome 9, 137644434: 137644434
47 COL5A1 NM_000093.4(COL5A1): c.1663-1G> C single nucleotide variant Pathogenic rs794727114 GRCh38 Chromosome 9, 134752588: 134752588
48 COL1A2 NM_000089.3(COL1A2): c.880G> A (p.Val294Ile) single nucleotide variant Uncertain significance rs145693444 GRCh37 Chromosome 7, 94038721: 94038721
49 COL1A2 NM_000089.3(COL1A2): c.880G> A (p.Val294Ile) single nucleotide variant Uncertain significance rs145693444 GRCh38 Chromosome 7, 94409409: 94409409
50 COL5A1 NM_000093.4(COL5A1): c.1896C> T (p.Phe632=) single nucleotide variant Conflicting interpretations of pathogenicity rs376478864 GRCh37 Chromosome 9, 137650103: 137650103

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 20)
# 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, 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 9.85 CD36 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
3 endoplasmic reticulum lumen GO:0005788 9.55 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
4 extracellular matrix GO:0031012 9.35 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5 collagen type V trimer GO:0005588 9.32 COL5A1 COL5A2
6 collagen type I trimer GO:0005584 9.26 COL1A1 COL1A2
7 collagen trimer GO:0005581 9.1 CD36 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

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

(show all 20)
# 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 blood vessel development GO:0001568 9.71 COL1A1 COL1A2 COL3A1 COL5A1
4 platelet activation GO:0030168 9.7 COL1A1 COL1A2 COL3A1
5 cellular response to amino acid stimulus GO:0071230 9.67 COL1A1 COL1A2 COL3A1 COL5A2
6 ossification GO:0001503 9.65 COL1A1 COL5A2 DSPP
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 transforming growth factor beta receptor signaling pathway GO:0007179 9.59 COL1A2 COL3A1
10 wound healing GO:0042060 9.58 COL1A1 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 9.49 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, 1 according to GeneCards Suite gene sharing:

# 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, 1

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
Content
Loading form....