EDSCL1
MCID: EHL073
MIFTS: 52

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 57 75
Ehlers-Danlos Syndrome, Type I 75 13 55
Ehlers-Danlos Syndrome Type 1 59 73
Edscl1 57 75
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, Type I, Formerly 57
Ehlers-Danlos Syndrome, Classic Type 59
Ehlers-Danlos Syndrome, Gravis Type 75
Ehlers-Danlos Syndrome Type 2 73
Ehlers-Danlos Syndrome 1 75
Eds, Classic Type 59
Eds I, Formerly 57
Eds1, Formerly 57
Eds1 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

UniProtKB/Swiss-Prot : 75 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. Affiliated tissues include skin, bone and heart, and related phenotypes are pectus excavatum and joint dislocation

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)

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 38)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 2 33.5 COL5A2 COL5A1 COL3A1 COL1A1
2 classic ehlers-danlos syndrome 32.6 COL5A2 COL5A1 COL1A2 COL1A1
3 ehlers-danlos syndrome 30.1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
4 type i ehlers-danlos syndrome 11.6
5 von willebrand disease, type 1 10.2
6 von willebrand's disease 10.2
7 bladder diverticulum 10.1
8 caspase 8 deficiency 10.0 COL5A2 COL5A1
9 osteogenesis imperfecta, type i 10.0 COL1A2 COL1A1
10 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A2 COL1A1
11 high bone mass osteogenesis imperfecta 10.0 COL1A2 COL1A1
12 osteogenesis imperfecta, type vii 10.0 COL1A2 COL1A1
13 osteogenesis imperfecta, type viii 10.0 COL1A2 COL1A1
14 osteogenesis imperfecta, type v 10.0 COL1A2 COL1A1
15 scleroderma, familial progressive 10.0 COL1A2 COL1A1
16 caffey disease 10.0 COL1A2 COL1A1
17 osteogenesis imperfecta, type ii 10.0 COL1A2 COL1A1
18 dental fluorosis 10.0 DSPP COL1A2
19 osteogenesis imperfecta, type iii 10.0 COL1A2 COL1A1
20 bruck syndrome 10.0 COL1A2 COL1A1
21 ehlers-danlos syndrome, vascular type 10.0 COL5A1 COL3A1
22 bone development disease 9.9 COL1A2 COL1A1
23 hypermobility syndrome 9.9 COL5A1 COL3A1
24 pelvic organ prolapse 9.9 COL3A1 COL1A1
25 osteochondrodysplasia 9.9 COL1A2 COL1A1
26 lipoblastoma 9.9 COL3A1 COL1A2
27 osteogenesis imperfecta, type iv 9.8 DSPP COL1A2 COL1A1
28 dentinogenesis imperfecta 9.8 DSPP COL1A2 COL1A1
29 loeys-dietz syndrome 9.8 COL5A2 COL3A1
30 intracranial aneurysm 9.8 COL3A1 COL1A2
31 pfeiffer syndrome 9.8 COL3A1 COL1A1
32 otosclerosis 9.8 COL1A2 COL1A1
33 spondyloepiphyseal dysplasia congenita 9.7 COL3A1 COL1A2 COL1A1
34 marfan syndrome 9.7 COL5A2 COL3A1 COL1A2
35 connective tissue disease 9.6 COL5A1 COL3A1 COL1A2 COL1A1
36 larsen-like syndrome 9.5 COL5A2 COL3A1 COL1A2 COL1A1
37 brittle bone disorder 9.5 DSPP COL3A1 COL1A2 COL1A1
38 collagen disease 9.4 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1

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 110)
# 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 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001373
3 osteoarthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002758
4 hypertension 59 32 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0000822
5 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
6 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
7 hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002615
8 scoliosis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002650
9 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
10 hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003307
11 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000023
12 dental malocclusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000689
13 open bite 59 32 occasional (7.5%) Occasional (29-5%) HP:0010807
14 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
15 pectus carinatum 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000768
16 umbilical hernia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001537
17 pes planus 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001763
18 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
19 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
20 reduced consciousness/confusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0004372
21 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
22 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
23 acrocyanosis 59 32 frequent (33%) Frequent (79-30%) HP:0001063
24 emphysema 59 32 hallmark (90%) Very frequent (99-80%) HP:0002097
25 aplasia/hypoplasia of the abdominal wall musculature 59 32 frequent (33%) Frequent (79-30%) HP:0010318
26 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005692
27 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
28 thin skin 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000963
29 corneal dystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001131
30 microdontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000691
31 genu recurvatum 59 32 frequent (33%) Frequent (79-30%) HP:0002816
32 abnormal nasal morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005105
33 high, narrow palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002705
34 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
35 atypical scarring of skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000987
36 atrial septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001631
37 aortic dissection 59 32 occasional (7.5%) Occasional (29-5%) HP:0002647
38 arterial dissection 59 32 hallmark (90%) Very frequent (99-80%) HP:0005294
39 abnormality of the renal tubule 59 32 occasional (7.5%) Occasional (29-5%) HP:0000091
40 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
41 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
42 cachexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004326
43 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
44 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000541
45 hypoplasia of the ear cartilage 59 32 frequent (33%) Frequent (79-30%) HP:0100720
46 striae distensae 59 32 hallmark (90%) Very frequent (99-80%) HP:0001065
47 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001166
48 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
49 ectopia lentis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001083
50 mitral valve prolapse 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001634

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 9.35 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

Search Clinical Trials , 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

Publications for Ehlers-Danlos Syndrome, Classic Type, 1

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

# 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
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
6
The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. ( 8752669 )
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

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

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

6 (show top 50) (show all 1649)
# 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 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 Conflicting interpretations of pathogenicity rs139446305 GRCh37 Chromosome 7, 94040411: 94040411
37 COL1A2 NM_000089.3(COL1A2): c.1295G> A (p.Arg432Gln) single nucleotide variant Conflicting interpretations of pathogenicity 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 11.8 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 11.68 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 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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