MCID: EHL033
MIFTS: 57

Ehlers-Danlos Syndrome, Classic Type

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Classic Type

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

Name: Ehlers-Danlos Syndrome, Classic Type 54 23 50 24 56 71 29
Ehlers-Danlos Syndrome, Type Ii 71 13 52
Ehlers-Danlos Syndrome, Type I 71 13 52
Eds, Classic Type 23 56
Ehlers-Danlos Syndrome, Severe Classic Type 71
Ehlers Danlos Syndrome, Mild Classic Type 71
Ehlers-Danlos Syndrome, Classical Type 23
Ehlers-Danlos Syndrome, Gravis Type 71
Ehlers Danlos Syndrome, Mitis Type 71
Classical Ehlers-Danlos Syndrome 50
Ehlers-Danlos Syndrome, Classic 54
Classic Ehlers-Danlos Syndrome 50
Ehlers-Danlos Syndrome Type 2 69
Ehlers-Danlos Syndrome Type 1 69
Ehlers-Danlos Syndrome 1 71
Classic Eds 24
Eds Ii 71
Eds I 71
Eds1 71
Eds2 71
Eds 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
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:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



Summaries for Ehlers-Danlos Syndrome, Classic Type

OMIM : 54
The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton, 1993). In the Villefranche classification of EDS (Beighton et al., 1998), 6 main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and EDS II, 130010), hypermobility type (EDS III, 130020), vascular type (EDS IV, 130050), kyphoscoliosis type (EDS VI, 225400), arthrochalasia type (EDS VIIA and VIIB, 130060), and dermatosparaxis type (EDS VIIC, 225410). Six other forms were listed, including a category of 'unspecified forms.' Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). In an early classification of EDS, EDS I was characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Prematurity occurred in approximately 50% of cases. Internal complications such as aortic and bowel rupture were occasionally present. EDS II had all the stigmata of EDS I, but to a minor degree (summary by Steinmann et al., 2002). (130000)

MalaCards based summary : Ehlers-Danlos Syndrome, Classic Type, also known as ehlers-danlos syndrome, type ii, is related to ehlers-danlos syndrome, classic type, col1a1-related and ehlers-danlos syndrome, classic type, col5a1-related, and has symptoms including short stature, scoliosis and umbilical hernia. An important gene associated with Ehlers-Danlos Syndrome, Classic Type is COL5A2 (Collagen Type V Alpha 2 Chain), and among its related pathways/superpathways are Integrin Pathway and Vesicle-mediated transport. Affiliated tissues include skin, bone and tongue, and related phenotypes are cardiovascular system and adipose tissue

NIH Rare Diseases : 50 classical ehlers-danlos syndrome(eds) is a genetic connective tissue disorder that is caused by defects in a protein called collagen. common symptoms include skin hyperextensibility, abnormal wound healing, and joint hypermobility. more than 90% of people with classical eds have mutations in col5a1 or col5a2, two genes which encode type v collagen. in rare cases, mutations in the gene encoding type i collagen, col1a1 gene, may be found. the condition is inherited in an autosomal dominant manner. treatment and management is focused on preventing serious complications and relieving associated symptoms. last updated: 6/30/2017

UniProtKB/Swiss-Prot : 71 Ehlers-Danlos syndrome, classic type: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity.

GeneReviews: NBK1244

Related Diseases for Ehlers-Danlos Syndrome, Classic Type

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

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

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

(show top 50) (show all 51)
id Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, col1a1-related 12.2
2 ehlers-danlos syndrome, classic type, col5a1-related 12.2
3 ehlers-danlos syndrome, classic type, col5a2-related 12.2
4 ehlers-danlos syndrome, type iv 11.9
5 cutis laxa, autosomal dominant 11.1
6 cutis laxa, autosomal recessive, type ia 11.1
7 cutis laxa, autosomal recessive, type ic 11.1
8 type i ehlers-danlos syndrome 11.0
9 ehlers-danlos syndrome type ii 11.0
10 ehlers-danlos syndrome due to tenascin x deficiency 10.8
11 ehlers-danlos syndrome 10.5
12 hashimoto thyroiditis 10.3 COL5A1 COL5A2
13 congenital erosive and vesicular dermatosis 10.2 COL1A1 COL1A2
14 cln12 disease 10.1 COL1A1 COL1A2
15 carbonic anhydrase va deficiency 10.1 COL1A1 COL1A2
16 prpf3-related retinitis pigmentosa 10.1 COL1A1 COL1A2
17 pens syndrome 10.1 COL1A1 COL1A2
18 epilepsy with neurodevelopmental defects 10.1 COL1A1 COL1A2
19 osteogenesis imperfecta, type viii 10.1 COL1A1 COL1A2
20 osteogenesis imperfecta, type iv 10.1 COL1A1 COL1A2
21 aggressive periodontitis 10.0 COL1A1 COL5A1 COL5A2
22 pontocerebellar hypoplasia, type 2e 10.0 COL1A1 COL1A2
23 eif2b4-related childhood ataxia with central nervous system hypomyelination/vanishing white matter 10.0 COL1A1 COL5A1 COL5A2
24 von willebrand disease, type 1 10.0
25 splenic flexure cancer 10.0 COL1A1 COL1A2
26 lipoic acid biosynthesis defects 10.0 COL1A2 COL3A1
27 ischemic bone disease 9.9 COL1A1 COL1A2
28 staphyloma posticum 9.9 COL3A1 COL5A1 COL5A2
29 neuroschistosomiasis 9.9 COL1A2 DSPP
30 strongyloidiasis 9.8 COL1A2 COL3A1
31 diabetic foot ulcers 9.7 COL1A1 COL1A2 DSPP
32 sulfite oxidase deficiency 9.7 COL1A1 COL1A2 COL3A1
33 fg syndrome 5 9.5 COL1A1 COL1A2
34 pfn1-related amyotrophic lateral sclerosis 9.4 CD36 COL1A1 COL1A2
35 human herpesvirus 8 9.4 CD36 COL1A1 COL1A2
36 immunodeficiency 39 9.4 CD36 COL1A1 COL1A2
37 mental retardation, autosomal recessive 35 9.4 CD36 COL1A1 COL1A2
38 physical urticaria 9.4 CD36 COL1A1 COL1A2
39 carnitine palmitoyltransferase ii deficiency 9.4 CD36 COL1A1 COL1A2
40 ehlers-danlos syndrome, cardiac valvular form 9.3 CD36 COL1A1 COL1A2
41 osteogenesis imperfecta, type ii 9.3 CD36 COL1A1 COL1A2
42 caffey disease 9.3 CD36 COL1A1 COL1A2
43 vaginal spindle cell epithelioma 9.3 COL1A1 COL1A2 COL3A1 COL5A1
44 marfan lipodystrophy syndrome 9.3 CD36 COL1A2
45 deafness, autosomal recessive 91 9.3 COL1A1 COL1A2 COL3A1 COL5A2
46 chylomicron retention disease 9.0 CD36 COL1A1 COL1A2
47 chronic fatigue syndrome 8.9 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
48 osteogenesis imperfecta, type iii 8.9 CD36 COL1A1 COL1A2 DSPP
49 tinea manuum 8.9 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
50 prostatocystitis 8.9 CD36 COL1A1 COL1A2 DSPP

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



Diseases related to Ehlers-Danlos Syndrome, Classic Type

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Classic Type

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

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

Skeletal:
osteoarthritis

Cardiovascular- Heart:
aortic root dilatation
mitral valve prolapse

Head And Neck- Face:
narrow maxilla

Head And Neck- Mouth:
small, irregularly placed teeth

Neurologic- Central Nervous System:
hypotonia in infancy

Abdomen- External Features:
umbilical hernia
inguinal hernia

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

Skeletal- Feet:
pes planus

Skin Nails & Hair- Skin:
skin hyperextensibility
fragile skin
easy bruisability
cigarette-paper scars
molluscoid pseudotumors
more
Head And Neck- Ears:
hypermobile
lop ears

Abdomen- Gastroin testinal:
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:

56 32 (show top 50) (show all 91)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
3 umbilical hernia 56 32 frequent (33%) Frequent (79-30%) HP:0001537
4 myopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000545
5 retinal detachment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000541
6 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
7 migraine 56 32 occasional (7.5%) Occasional (29-5%) HP:0002076
8 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
9 premature birth 56 32 frequent (33%) Frequent (79-30%) HP:0001622
10 glaucoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000501
11 fatigue 56 32 occasional (7.5%) Occasional (29-5%) HP:0012378
12 muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0001324
13 microcornea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000482
14 pectus carinatum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000768
15 thin skin 56 32 frequent (33%) Frequent (79-30%) HP:0000963
16 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
17 wide nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000431
18 spina bifida occulta 56 32 hallmark (90%) Very frequent (99-80%) HP:0003298
19 hypertension 56 32 hallmark (90%) Very frequent (99-80%) HP:0000822
20 myalgia 56 32 frequent (33%) Frequent (79-30%) HP:0003326
21 triangular face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000325
22 petechiae 56 32 hallmark (90%) Very frequent (99-80%) HP:0000967
23 osteoarthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002758
24 narrow face 56 32 frequent (33%) Frequent (79-30%) HP:0000275
25 pes planus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001763
26 mitral valve prolapse 56 32 frequent (33%) Frequent (79-30%) HP:0001634
27 joint hyperflexibility 56 32 hallmark (90%) Very frequent (99-80%) HP:0005692
28 arachnodactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001166
29 hyperlordosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003307
30 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
31 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
32 dental malocclusion 56 32 occasional (7.5%) Occasional (29-5%) HP:0000689
33 asthma 56 32 hallmark (90%) Very frequent (99-80%) HP:0002099
34 microdontia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000691
35 eczema 56 32 hallmark (90%) Very frequent (99-80%) HP:0000964
36 blue sclerae 56 32 occasional (7.5%) Occasional (29-5%) HP:0000592
37 ectopia lentis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001083
38 acrocyanosis 56 32 frequent (33%) Frequent (79-30%) HP:0001063
39 hypotension 56 32 hallmark (90%) Very frequent (99-80%) HP:0002615
40 erythema 56 32 frequent (33%) Frequent (79-30%) HP:0010783
41 tricuspid valve prolapse 56 32 frequent (33%) Frequent (79-30%) HP:0001704
42 keratoglobus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001119
43 urticaria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001025
44 emphysema 56 32 hallmark (90%) Very frequent (99-80%) HP:0002097
45 hiatus hernia 56 32 frequent (33%) Frequent (79-30%) HP:0002036
46 hyperextensible skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000974
47 joint dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0001373
48 open bite 56 32 occasional (7.5%) Occasional (29-5%) HP:0010807
49 high, narrow palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0002705
50 cachexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0004326

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

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

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Classic Type

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

Genetic Tests for Ehlers-Danlos Syndrome, Classic Type

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

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

Anatomical Context for Ehlers-Danlos Syndrome, Classic Type

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

39
Skin, Bone, Tongue

Publications for Ehlers-Danlos Syndrome, Classic Type

Articles related to Ehlers-Danlos Syndrome, Classic Type:

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

Variations for Ehlers-Danlos Syndrome, Classic Type

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

71
id Symbol AA change Variation ID SNP ID
1 COL1A1 p.Arg312Cys VAR_013579
2 COL5A1 p.Cys1639Ser VAR_001808 rs80338764
3 COL5A1 p.Gly530Ser VAR_015412 rs61735045
4 COL5A1 p.Gly1489Asp VAR_015413
5 COL5A1 p.Leu25Pro VAR_057902
6 COL5A1 p.Leu25Arg VAR_057903
7 COL5A1 p.Gly1486Cys VAR_057909
8 COL5A2 p.Gly963Arg VAR_013588
9 COL5A2 p.Gly228Arg VAR_078424

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

6 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1 COL5A1 NM_000093.4(COL5A1): c.3906+3G> T single nucleotide variant Pathogenic rs786200922 GRCh37 Chromosome 9, 137705885: 137705885
2 COL5A1 NM_000093.4(COL5A1): c.5370+3_5370+6delGAGT deletion Pathogenic rs786200923 GRCh37 Chromosome 9, 137727053: 137727056
3 COL5A1 NM_000093.4(COL5A1): c.4916G> C (p.Cys1639Ser) single nucleotide variant Pathogenic rs80338764 GRCh37 Chromosome 9, 137716663: 137716663
4 COL5A1 NM_000093.4(COL5A1): c.3259_3366del (p.Ser1088_Gly1123del) deletion Pathogenic
5 COL5A1 NM_000093.4(COL5A1): c.5137-11T> A single nucleotide variant Pathogenic rs183495554 GRCh38 Chromosome 9, 134834960: 134834960
6 COL5A1 NM_000093.4(COL5A1): c.2701-25T> G single nucleotide variant Pathogenic/Likely pathogenic rs765079080 GRCh38 Chromosome 9, 134795057: 134795057
7 COL5A1 NM_000093.4(COL5A1): c.4466G> A (p.Gly1489Glu) single nucleotide variant Pathogenic rs121912932 GRCh37 Chromosome 9, 137711981: 137711981
8 COL5A1 NM_000093.4(COL5A1): c.3752delC (p.Pro1251Argfs) deletion Pathogenic rs786205100 GRCh37 Chromosome 9, 137704458: 137704458
9 COL5A1 NM_000093.4(COL5A1): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121912933 GRCh37 Chromosome 9, 137666747: 137666747
10 COL5A1 NM_000093.4(COL5A1): c.655-2A> G single nucleotide variant Pathogenic rs786205101 GRCh37 Chromosome 9, 137619110: 137619110
11 COL5A1 NM_000093.4(COL5A1): c.4339-1delG deletion Pathogenic rs786205102 GRCh37 Chromosome 9, 137710693: 137710693
12 COL5A2 NM_000393.4(COL5A2): c.1924-2_1928delAGGGAGC deletion Pathogenic rs786205103 GRCh37 Chromosome 2, 189927640: 189927646
13 COL5A2 NM_000393.4(COL5A2): c.2031+1G> T single nucleotide variant Pathogenic rs786205104 GRCh37 Chromosome 2, 189926287: 189926287
14 COL5A2 NM_000393.4(COL5A2): c.3445G> C (p.Gly1149Arg) single nucleotide variant Pathogenic rs121912930 GRCh37 Chromosome 2, 189907903: 189907903
15 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
16 COL5A1 NM_000093.4(COL5A1): c.3184C> T (p.Arg1062Ter) single nucleotide variant Pathogenic rs387906606 GRCh37 Chromosome 9, 137696890: 137696890
17 COL5A1 NM_000093.4(COL5A1): c.1663-1G> C single nucleotide variant Pathogenic rs794727114 GRCh37 Chromosome 9, 137644434: 137644434
18 COL5A1 NM_000093.4(COL5A1): c.3781G> A (p.Gly1261Arg) single nucleotide variant Likely pathogenic rs772445337 GRCh37 Chromosome 9, 137704487: 137704487
19 COL5A1 NM_000093.4(COL5A1): c.4184delC (p.Pro1395Glnfs) deletion Pathogenic rs794727760 GRCh37 Chromosome 9, 137709631: 137709631
20 COL5A1 NM_000093.4(COL5A1): c.406C> T (p.Pro136Ser) single nucleotide variant Likely pathogenic rs777625241 GRCh37 Chromosome 9, 137591883: 137591883
21 COL5A2 NM_000393.4(COL5A2): c.3309G> A (p.Pro1103=) single nucleotide variant Likely pathogenic rs878853978 GRCh38 Chromosome 2, 189045800: 189045800
22 COL5A1 NM_001278074.1(COL5A1): c.2034+1G> A single nucleotide variant Pathogenic rs886042173 GRCh37 Chromosome 9, 137655584: 137655584
23 COL1A1 NM_000088.3(COL1A1): c.472-1G> C single nucleotide variant Pathogenic rs72667020 GRCh37 Chromosome 17, 48275866: 48275866
24 COL5A1 NM_001278074.1(COL5A1): c.1207G> T (p.Glu403Ter) single nucleotide variant Pathogenic rs886043641 GRCh37 Chromosome 9, 137623384: 137623384
25 COL5A1 NM_000093.4(COL5A1): c.3762delT (p.Gly1255Alafs) deletion Pathogenic rs1057518653 GRCh38 Chromosome 9, 134812622: 134812622
26 COL5A1 NM_000093.4(COL5A1): c.2203dupC (p.Gln735Profs) duplication Pathogenic rs1057519596 GRCh37 Chromosome 9, 137659171: 137659171
27 COL5A1 NM_000093.4(COL5A1): c.4203delA (p.Gly1402Alafs) deletion Pathogenic rs1060502255 GRCh38 Chromosome 9, 134817804: 134817804
28 COL5A1 NM_000093.4(COL5A1): c.4232delG (p.Gly1411Glufs) deletion Pathogenic rs1060502259 GRCh38 Chromosome 9, 134818657: 134818657
29 COL5A1 NC_000009.12: g.(?_134701171)_(134835204_?)del deletion Pathogenic GRCh38 Chromosome 9, 134701171: 134835204
30 COL5A1 NM_000093.4(COL5A1): c.228_229delAG (p.Arg76Serfs) deletion Pathogenic rs1060502242 GRCh38 Chromosome 9, 134691030: 134691031
31 COL5A1 NM_000093.4(COL5A1): c.1075G> T (p.Glu359Ter) single nucleotide variant Pathogenic rs769752636 GRCh38 Chromosome 9, 134730386: 134730386
32 COL5A1 NM_000093.4(COL5A1): c.2143G> T (p.Gly715Ter) single nucleotide variant Pathogenic rs1060502258 GRCh38 Chromosome 9, 134767009: 134767009
33 COL5A1 NM_000093.4(COL5A1): c.2988delC (p.Gly997Alafs) deletion Pathogenic rs1060502256 GRCh38 Chromosome 9, 134801989: 134801989
34 COL5A1 NM_000093.4(COL5A1): c.5141_5143delCCT (p.Ser1714del) deletion Likely pathogenic rs1060502250 GRCh38 Chromosome 9, 134834975: 134834977
35 COL5A1 NM_000093.4(COL5A1): c.2430+1G> A single nucleotide variant Pathogenic rs1060502248 GRCh38 Chromosome 9, 134780147: 134780147

Expression for Ehlers-Danlos Syndrome, Classic Type

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

Pathways for Ehlers-Danlos Syndrome, Classic Type

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

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

GO Terms for Ehlers-Danlos Syndrome, Classic Type

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

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

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.74 COL1A1 COL1A2 COL3A1
2 blood coagulation GO:0007596 9.73 CD36 COL1A1 COL1A2
3 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 wound healing GO:0042060 9.59 COL1A1 COL3A1
10 transforming growth factor beta receptor signaling pathway GO:0007179 9.58 COL1A2 COL3A1
11 response to mechanical stimulus GO:0009612 9.58 COL1A1 COL3A1
12 supramolecular fiber organization GO:0097435 9.55 COL3A1 COL5A1
13 collagen catabolic process GO:0030574 9.55 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
14 protein heterotrimerization GO:0070208 9.54 COL1A1 COL1A2
15 skin morphogenesis GO:0043589 9.51 COL1A1 COL1A2
16 collagen biosynthetic process GO:0032964 9.49 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 according to GeneCards Suite gene sharing:

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

Sources for Ehlers-Danlos Syndrome, Classic Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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