EDSCL1
MCID: EHL073
MIFTS: 55

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
Ehlers-Danlos Syndrome Type 1 60 74
Edscl1 58 76
Eds I 60 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, Classic Type 60
Ehlers-Danlos Syndrome, Gravis Type 76
Ehlers-Danlos Syndrome Type 2 74
Ehlers-Danlos Syndrome 1 76
Eds, Classic Type 60
Eds I, Formerly 58
Eds1, Formerly 58
Eds1 76

Characteristics:

Orphanet epidemiological data:

60
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:

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, bone and heart, and related phenotypes are joint dislocation and hypertension

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 38)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 2 33.2 COL5A2 COL5A1 COL3A1 COL1A1
2 classic ehlers-danlos syndrome 32.4 COL5A2 COL5A1 COL1A2 COL1A1
3 ehlers-danlos syndrome 29.6 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 10.1 COL5A1 COL5A2
9 osteogenesis imperfecta, type i 10.0 COL1A1 COL1A2
10 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A1 COL1A2
11 high bone mass osteogenesis imperfecta 10.0 COL1A1 COL1A2
12 osteogenesis imperfecta, type vii 10.0 COL1A1 COL1A2
13 osteogenesis imperfecta, type viii 10.0 COL1A1 COL1A2
14 osteogenesis imperfecta, type v 10.0 COL1A1 COL1A2
15 scleroderma, familial progressive 10.0 COL1A1 COL1A2
16 caffey disease 10.0 COL1A1 COL1A2
17 otosclerosis 9.9 COL1A1 COL1A2
18 dental fluorosis 9.9 COL1A2 DSPP
19 osteogenesis imperfecta, type ii 9.9 COL1A1 COL1A2
20 ehlers-danlos syndrome, vascular type 9.9 COL3A1 COL5A1
21 osteogenesis imperfecta, type iii 9.9 COL1A1 COL1A2
22 hypermobility syndrome 9.9 COL3A1 COL5A1
23 bruck syndrome 9.9 COL1A1 COL1A2
24 bone development disease 9.9 COL1A1 COL1A2
25 pelvic organ prolapse 9.8 COL1A1 COL3A1
26 lipoblastoma 9.8 COL1A2 COL3A1
27 osteogenesis imperfecta, type iv 9.7 COL1A1 COL1A2 DSPP
28 dentinogenesis imperfecta 9.7 COL1A1 COL1A2 DSPP
29 cholecystitis 9.7
30 loeys-dietz syndrome 9.6 COL3A1 COL5A2
31 intracranial aneurysm 9.6 COL1A2 COL3A1
32 spondyloepiphyseal dysplasia congenita 9.6 COL1A1 COL1A2 COL3A1
33 pfeiffer syndrome 9.5 COL1A1 COL3A1
34 marfan syndrome 9.5 COL1A2 COL3A1 COL5A2
35 connective tissue disease 9.3 COL1A1 COL1A2 COL3A1 COL5A1
36 larsen-like syndrome 9.3 COL5A2 COL3A1 COL1A2 COL1A1
37 brittle bone disorder 9.3 COL1A1 COL1A2 COL3A1 DSPP
38 collagen disease 9.0 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

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

60 33 (show top 50) (show all 110)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 60 33 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001373
2 hypertension 60 33 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0000822
3 hypotension 60 33 hallmark (90%) Very frequent (99-80%) HP:0002615
4 hyperlordosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003307
5 pectus carinatum 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000768
6 emphysema 60 33 hallmark (90%) Very frequent (99-80%) HP:0002097
7 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005692
8 thin skin 60 33 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000963
9 abnormal nasal morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005105
10 high, narrow palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002705
11 atypical scarring of skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000987
12 arterial dissection 60 33 hallmark (90%) Very frequent (99-80%) HP:0005294
13 glaucoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000501
14 striae distensae 60 33 hallmark (90%) Very frequent (99-80%) HP:0001065
15 arachnodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001166
16 asthma 60 33 hallmark (90%) Very frequent (99-80%) HP:0002099
17 eczema 60 33 hallmark (90%) Very frequent (99-80%) HP:0000964
18 petechiae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000967
19 spina bifida occulta 60 33 hallmark (90%) Very frequent (99-80%) HP:0003298
20 triangular face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000325
21 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
22 abnormality of the tongue 60 33 hallmark (90%) Very frequent (99-80%) HP:0000157
23 abnormality of the gingiva 60 33 hallmark (90%) Very frequent (99-80%) HP:0000168
24 shagreen patch 60 33 hallmark (90%) Very frequent (99-80%) HP:0009721
25 malar prominence 60 33 hallmark (90%) Very frequent (99-80%) HP:0010620
26 atrophic scars 60 33 hallmark (90%) Very frequent (99-80%) HP:0001075
27 soft skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000977
28 cigarette-paper scars 33 hallmark (90%) HP:0001073
29 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
30 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
31 scoliosis 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002650
32 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000023
33 umbilical hernia 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001537
34 pes planus 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001763
35 gastroesophageal reflux 60 33 frequent (33%) Frequent (79-30%) HP:0002020
36 acrocyanosis 60 33 frequent (33%) Frequent (79-30%) HP:0001063
37 aplasia/hypoplasia of the abdominal wall musculature 60 33 frequent (33%) Frequent (79-30%) HP:0010318
38 genu recurvatum 60 33 frequent (33%) Frequent (79-30%) HP:0002816
39 myalgia 60 33 frequent (33%) Frequent (79-30%) HP:0003326
40 mitral valve prolapse 60 33 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001634
41 hypoplasia of the ear cartilage 60 33 frequent (33%) Frequent (79-30%) HP:0100720
42 narrow face 60 33 frequent (33%) Frequent (79-30%) HP:0000275
43 varicose veins 60 33 frequent (33%) Frequent (79-30%) HP:0002619
44 erythema 60 33 frequent (33%) Frequent (79-30%) HP:0010783
45 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000978
46 hallux valgus 60 33 frequent (33%) Frequent (79-30%) HP:0001822
47 venous insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0005293
48 hiatus hernia 60 33 frequent (33%) Frequent (79-30%) HP:0002036
49 congenital diaphragmatic hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000776
50 premature birth 60 33 frequent (33%) Frequent (79-30%) HP:0001622

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 Anti-Infective Agents Phase 3
5 Antibiotics, Antitubercular 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:

42
Skin, Bone, Heart, Tongue

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
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
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 1644)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL5A2 NM_000393.4(COL5A2): c.2011C> T (p.Pro671Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs139189200 GRCh37 Chromosome 2, 189926308: 189926308
2 COL5A2 NM_000393.4(COL5A2): c.2011C> T (p.Pro671Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs139189200 GRCh38 Chromosome 2, 189061582: 189061582
3 COL5A2 NM_000393.4(COL5A2): c.1693G> C (p.Glu565Gln) single nucleotide variant Uncertain significance rs730880066 GRCh37 Chromosome 2, 189929306: 189929306
4 COL5A2 NM_000393.4(COL5A2): c.1693G> C (p.Glu565Gln) single nucleotide variant Uncertain significance rs730880066 GRCh38 Chromosome 2, 189064580: 189064580
5 COL5A1 NM_000093.4(COL5A1): c.514G> T (p.Val172Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150147262 GRCh38 Chromosome 9, 134701193: 134701193
6 COL5A1 NM_000093.4(COL5A1): c.514G> T (p.Val172Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs150147262 GRCh37 Chromosome 9, 137593039: 137593039
7 COL5A1 NM_000093.4(COL5A1): c.5350G> A (p.Ala1784Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143859495 GRCh38 Chromosome 9, 134835184: 134835184
8 COL5A1 NM_000093.4(COL5A1): c.5350G> A (p.Ala1784Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143859495 GRCh37 Chromosome 9, 137727030: 137727030
9 COL1A2 NM_000089.3(COL1A2): c.880G> A (p.Val294Ile) single nucleotide variant Uncertain significance rs145693444 GRCh37 Chromosome 7, 94038721: 94038721
10 COL1A2 NM_000089.3(COL1A2): c.880G> A (p.Val294Ile) single nucleotide variant Uncertain significance rs145693444 GRCh38 Chromosome 7, 94409409: 94409409
11 COL5A1 NM_000093.4(COL5A1): c.1896C> T (p.Phe632=) single nucleotide variant Conflicting interpretations of pathogenicity rs376478864 GRCh37 Chromosome 9, 137650103: 137650103
12 COL5A1 NM_000093.4(COL5A1): c.1896C> T (p.Phe632=) single nucleotide variant Conflicting interpretations of pathogenicity rs376478864 GRCh38 Chromosome 9, 134758257: 134758257
13 COL5A1 NM_000093.4(COL5A1): c.240C> T (p.Asp80=) single nucleotide variant Benign/Likely benign rs79724538 GRCh37 Chromosome 9, 137582888: 137582888
14 COL5A1 NM_000093.4(COL5A1): c.240C> T (p.Asp80=) single nucleotide variant Benign/Likely benign rs79724538 GRCh38 Chromosome 9, 134691042: 134691042
15 COL5A2 NM_000393.4(COL5A2): c.1455+6G> T single nucleotide variant Benign/Likely benign rs113512079 GRCh37 Chromosome 2, 189931449: 189931449
16 COL5A2 NM_000393.4(COL5A2): c.1455+6G> T single nucleotide variant Benign/Likely benign rs113512079 GRCh38 Chromosome 2, 189066723: 189066723
17 COL5A1 NM_000093.4(COL5A1): c.2695G> A (p.Gly899Ser) single nucleotide variant Benign/Likely benign rs149964491 GRCh37 Chromosome 9, 137681049: 137681049
18 COL5A1 NM_000093.4(COL5A1): c.2695G> A (p.Gly899Ser) single nucleotide variant Benign/Likely benign rs149964491 GRCh38 Chromosome 9, 134789203: 134789203
19 COL5A2 NM_000393.4(COL5A2): c.2376A> C (p.Gly792=) single nucleotide variant Benign/Likely benign rs35860166 GRCh37 Chromosome 2, 189921714: 189921714
20 COL5A2 NM_000393.4(COL5A2): c.2376A> C (p.Gly792=) single nucleotide variant Benign/Likely benign rs35860166 GRCh38 Chromosome 2, 189056988: 189056988
21 COL5A1 NM_000093.4(COL5A1): c.3069C> T (p.Pro1023=) single nucleotide variant Conflicting interpretations of pathogenicity rs139070070 GRCh37 Chromosome 9, 137694796: 137694796
22 COL5A1 NM_000093.4(COL5A1): c.3069C> T (p.Pro1023=) single nucleotide variant Conflicting interpretations of pathogenicity rs139070070 GRCh38 Chromosome 9, 134802950: 134802950
23 COL5A1 NM_000093.4(COL5A1): c.3204+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs202054108 GRCh37 Chromosome 9, 137696913: 137696913
24 COL5A1 NM_000093.4(COL5A1): c.3204+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs202054108 GRCh38 Chromosome 9, 134805067: 134805067
25 COL5A2 NM_000393.4(COL5A2): c.2787G> A (p.Ala929=) single nucleotide variant Benign/Likely benign rs151027388 GRCh37 Chromosome 2, 189916190: 189916190
26 COL5A2 NM_000393.4(COL5A2): c.2787G> A (p.Ala929=) single nucleotide variant Benign/Likely benign rs151027388 GRCh38 Chromosome 2, 189051464: 189051464
27 COL5A2 NM_000393.4(COL5A2): c.3209G> A (p.Arg1070His) single nucleotide variant Uncertain significance rs373288848 GRCh37 Chromosome 2, 189910626: 189910626
28 COL5A2 NM_000393.4(COL5A2): c.3209G> A (p.Arg1070His) single nucleotide variant Uncertain significance rs373288848 GRCh38 Chromosome 2, 189045900: 189045900
29 COL5A1 NM_000093.4(COL5A1): c.1383C> T (p.Ile461=) single nucleotide variant Conflicting interpretations of pathogenicity rs61736827 GRCh37 Chromosome 9, 137623967: 137623967
30 COL5A1 NM_000093.4(COL5A1): c.1383C> T (p.Ile461=) single nucleotide variant Conflicting interpretations of pathogenicity rs61736827 GRCh38 Chromosome 9, 134732121: 134732121
31 COL5A2 NM_000393.4(COL5A2): c.4163C> A (p.Thr1388Asn) single nucleotide variant Uncertain significance rs771415085 GRCh38 Chromosome 2, 189035106: 189035106
32 COL5A2 NM_000393.4(COL5A2): c.4163C> A (p.Thr1388Asn) single nucleotide variant Uncertain significance rs771415085 GRCh37 Chromosome 2, 189899832: 189899832
33 COL5A1 NM_000093.4(COL5A1): c.406C> T (p.Pro136Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs777625241 GRCh37 Chromosome 9, 137591883: 137591883
34 COL5A1 NM_000093.4(COL5A1): c.406C> T (p.Pro136Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs777625241 GRCh38 Chromosome 9, 134700037: 134700037
35 COL5A2 NM_000393.4(COL5A2): c.4495G> T (p.Val1499Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs527433112 GRCh38 Chromosome 2, 189034075: 189034075
36 COL5A2 NM_000393.4(COL5A2): c.4495G> T (p.Val1499Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs527433112 GRCh37 Chromosome 2, 189898801: 189898801
37 COL5A2 NM_000393.4(COL5A2): c.4451G> A (p.Gly1484Asp) single nucleotide variant Uncertain significance rs761481937 GRCh38 Chromosome 2, 189034119: 189034119
38 COL5A2 NM_000393.4(COL5A2): c.4451G> A (p.Gly1484Asp) single nucleotide variant Uncertain significance rs761481937 GRCh37 Chromosome 2, 189898845: 189898845
39 COL5A2 NM_000393.4(COL5A2): c.4450G> A (p.Gly1484Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147420365 GRCh38 Chromosome 2, 189034120: 189034120
40 COL5A2 NM_000393.4(COL5A2): c.4450G> A (p.Gly1484Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147420365 GRCh37 Chromosome 2, 189898846: 189898846
41 COL5A2 NM_000393.4(COL5A2): c.4358G> A (p.Arg1453Gln) single nucleotide variant Uncertain significance rs149064715 GRCh37 Chromosome 2, 189898938: 189898938
42 COL5A2 NM_000393.4(COL5A2): c.4358G> A (p.Arg1453Gln) single nucleotide variant Uncertain significance rs149064715 GRCh38 Chromosome 2, 189034212: 189034212
43 COL5A2 NM_000393.4(COL5A2): c.4295A> T (p.Asp1432Val) single nucleotide variant Likely benign rs141777954 GRCh38 Chromosome 2, 189034974: 189034974
44 COL5A2 NM_000393.4(COL5A2): c.4295A> T (p.Asp1432Val) single nucleotide variant Likely benign rs141777954 GRCh37 Chromosome 2, 189899700: 189899700
45 COL5A2 NM_000393.4(COL5A2): c.4240G> A (p.Asp1414Asn) single nucleotide variant Benign/Likely benign rs139229616 GRCh37 Chromosome 2, 189899755: 189899755
46 COL5A2 NM_000393.4(COL5A2): c.4240G> A (p.Asp1414Asn) single nucleotide variant Benign/Likely benign rs139229616 GRCh38 Chromosome 2, 189035029: 189035029
47 COL5A2 NM_000393.4(COL5A2): c.4197G> A (p.Gln1399=) single nucleotide variant Benign/Likely benign rs78870279 GRCh38 Chromosome 2, 189035072: 189035072
48 COL5A2 NM_000393.4(COL5A2): c.4197G> A (p.Gln1399=) single nucleotide variant Benign/Likely benign rs78870279 GRCh37 Chromosome 2, 189899798: 189899798
49 COL5A2 NM_000393.4(COL5A2): c.4173C> G (p.Arg1391=) single nucleotide variant Conflicting interpretations of pathogenicity rs148590409 GRCh38 Chromosome 2, 189035096: 189035096
50 COL5A2 NM_000393.4(COL5A2): c.4173C> G (p.Arg1391=) single nucleotide variant Conflicting interpretations of pathogenicity rs148590409 GRCh37 Chromosome 2, 189899822: 189899822

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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