CEDS
MCID: CLS054
MIFTS: 54

Classic Ehlers-Danlos Syndrome (CEDS)

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

Aliases & Classifications for Classic Ehlers-Danlos Syndrome

MalaCards integrated aliases for Classic Ehlers-Danlos Syndrome:

Name: Classic Ehlers-Danlos Syndrome 24 52
Ehlers-Danlos Syndrome, Classic Type 24 52 29 6
Classical Ehlers-Danlos Syndrome 52 58
Eds, Classic Type 24
Classical Eds 58
Ceds 58

Characteristics:

Orphanet epidemiological data:

58
classical ehlers-danlos syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy,Neonatal;

GeneReviews:

24
Penetrance It is unknown whether penetrance is 100% or reduced. it is presumed to be the same for males and females.

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Classic Ehlers-Danlos Syndrome

NIH Rare Diseases : 52 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.

MalaCards based summary : Classic Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome, classic type, is related to ehlers-danlos syndrome, classic type, 2 and caspase 8 deficiency. An important gene associated with Classic Ehlers-Danlos Syndrome is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are Integrin Pathway and PI3K-Akt signaling pathway. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and tongue, and related phenotypes are hypertension and hypotension

GeneReviews: NBK1244

Related Diseases for Classic Ehlers-Danlos Syndrome

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 Classic Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 2 33.1 COL5A2 COL5A1
2 caspase 8 deficiency 32.2 COL5A2 COL5A1
3 ehlers-danlos syndrome, classic type, 1 31.9 COL5A2 COL5A1 COL1A2 COL1A1
4 hypermobile ehlers-danlos syndrome 30.7 TNXB COL1A1
5 inguinal hernia 29.8 COL5A1 COL1A1
6 loeys-dietz syndrome 29.7 COL5A2 COL5A1
7 orthostatic intolerance 29.6 TNXB COL5A2 COL5A1
8 ehlers-danlos syndrome 29.3 TNXB COL5A2 COL5A1 COL1A2 COL1A1
9 brittle bone disorder 29.0 COL5A2 COL5A1 COL1A2 COL1A1
10 connective tissue disease 28.9 TNXB COL5A1 COL1A2 COL1A1
11 hypermobility syndrome 28.7 TNXB COL5A2 COL5A1 COL1A1
12 cranioectodermal dysplasia 1 12.1
13 camurati-engelmann disease 12.1
14 cutis laxa, autosomal dominant 1 11.5
15 cutis laxa, autosomal recessive, type ia 11.5
16 ehlers-danlos syndrome, classic-like 11.5
17 cutis laxa, autosomal recessive, type ic 11.5
18 cranioectodermal dysplasia 3 11.5
19 ribbing disease 11.4
20 cranioectodermal dysplasia 2 11.2
21 cranioectodermal dysplasia 4 11.2
22 ehlers-danlos syndrome, vascular type 10.4
23 aneurysm 10.3
24 myeloma, multiple 10.3
25 teeth, supernumerary 10.2
26 von willebrand disease, type 1 10.2
27 von willebrand's disease 10.2
28 atrial standstill 1 10.2
29 alacrima, achalasia, and mental retardation syndrome 10.2
30 dilated cardiomyopathy 10.2
31 cutis laxa 10.2
32 aortic valve insufficiency 10.2
33 vasculitis 10.2
34 48,xyyy 10.2
35 hypotonia 10.2
36 drug-induced vasculitis 10.2
37 obsolete: ehlers-danlos syndrome type 1 10.2
38 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.1
39 drug allergy 10.1
40 acute cystitis 10.1
41 thrombocytopenia 10.1
42 glioblastoma multiforme 10.1
43 astrocytoma 10.1
44 crohn's disease 10.1
45 pulmonary embolism 10.1
46 irritable bowel syndrome 10.1
47 glioma 10.1
48 glial tumor 10.1
49 nail-patella syndrome 10.0 COL5A2 COL5A1
50 osteogenesis imperfecta, type i 10.0 COL1A2 COL1A1

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



Diseases related to Classic Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Classic Ehlers-Danlos Syndrome

Human phenotypes related to Classic Ehlers-Danlos Syndrome:

58 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
2 hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002615
3 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
4 pectus carinatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000768
5 emphysema 58 31 hallmark (90%) Very frequent (99-80%) HP:0002097
6 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
7 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
8 abnormal nasal morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005105
9 atypical scarring of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000987
10 arterial dissection 58 31 hallmark (90%) Very frequent (99-80%) HP:0005294
11 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
12 striae distensae 58 31 hallmark (90%) Very frequent (99-80%) HP:0001065
13 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
14 asthma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002099
15 eczema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000964
16 petechiae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000967
17 spina bifida occulta 58 31 hallmark (90%) Very frequent (99-80%) HP:0003298
18 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
19 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
20 abnormality of the tongue 58 31 hallmark (90%) Very frequent (99-80%) HP:0000157
21 abnormality of the gingiva 58 31 hallmark (90%) Very frequent (99-80%) HP:0000168
22 shagreen patch 58 31 hallmark (90%) Very frequent (99-80%) HP:0009721
23 malar prominence 58 31 hallmark (90%) Very frequent (99-80%) HP:0010620
24 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
25 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
26 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
27 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
28 acrocyanosis 58 31 frequent (33%) Frequent (79-30%) HP:0001063
29 erythema 58 31 frequent (33%) Frequent (79-30%) HP:0010783
30 aplasia/hypoplasia of the abdominal wall musculature 58 31 frequent (33%) Frequent (79-30%) HP:0010318
31 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
32 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
33 mitral valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001634
34 hypoplasia of the ear cartilage 58 31 frequent (33%) Frequent (79-30%) HP:0100720
35 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
36 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
37 venous insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0005293
38 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
39 hiatus hernia 58 31 frequent (33%) Frequent (79-30%) HP:0002036
40 tricuspid valve prolapse 58 31 frequent (33%) Frequent (79-30%) HP:0001704
41 osteoarthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002758
42 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
43 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
44 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
45 dental malocclusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000689
46 open bite 58 31 occasional (7.5%) Occasional (29-5%) HP:0010807
47 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
48 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
49 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
50 reduced consciousness/confusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0004372

MGI Mouse Phenotypes related to Classic Ehlers-Danlos Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
2 integument MP:0010771 9.35 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
3 normal MP:0002873 8.92 COL1A1 COL1A2 COL5A1 COL5A2

Drugs & Therapeutics for Classic Ehlers-Danlos Syndrome

Drugs for Classic Ehlers-Danlos Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies
2 Immunoglobulins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Transfusion in Sickle Cell Disease: Risk Factors for Alloimmunization Recruiting NCT03405402
2 Retrospective Study of the Risk Factors for Allo-immunization in Sickle Cell Disease Withdrawn NCT03401125

Search NIH Clinical Center for Classic Ehlers-Danlos Syndrome

Genetic Tests for Classic Ehlers-Danlos Syndrome

Genetic tests related to Classic Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Classic Type 29

Anatomical Context for Classic Ehlers-Danlos Syndrome

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

40
Skin, Bone, Tongue, Heart, Skeletal Muscle

Publications for Classic Ehlers-Danlos Syndrome

Articles related to Classic Ehlers-Danlos Syndrome:

(show top 50) (show all 76)
# Title Authors PMID Year
1
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. 6 61 24
15580559 2005
2
Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). 24 6
10796876 2000
3
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. 24 6
10777716 2000
4
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 6 24
10739762 2000
5
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? 6 24
10602121 2000
6
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. 6 24
9783710 1998
7
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. 24 6
9425231 1998
8
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. 6 61
20635400 2010
9
Classic Ehlers-Danlos Syndrome 61 6
20301422 2007
10
Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. 24 61
25597651 2015
11
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 24 61
23587214 2013
12
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. 61 24
22696272 2012
13
Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. 61 24
21193204 2011
14
Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome. 6
15264295 2004
15
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. 6
12145749 2002
16
The devil of the one letter code and the Ehlers-Danlos syndrome: corrigendum. 6
10946364 2000
17
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. 6
9683580 1998
18
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. 6
9042913 1997
19
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). 6
8923000 1996
20
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. 6
8950675 1996
21
Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes. 6
8575750 1995
22
The 2017 international classification of the Ehlers-Danlos syndromes. 24
28306229 2017
23
Ehlers-Danlos syndrome, classical type. 24
28192633 2017
24
The Ehlers-Danlos syndromes, rare types. 24
28306225 2017
25
Timing, rates and spectra of human germline mutation. 24
26656846 2016
26
Skin extensibility and consistency in patients with Ehlers-Danlos syndrome and benign joint hypermobility syndrome. 24
19169910 2009
27
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. 24
17211858 2007
28
Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes. 24
16353246 2006
29
Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. 24
15728585 2005
30
Oral health in prevalent types of Ehlers-Danlos syndromes. 24
15817074 2005
31
Generalized joint hypermobility and temporomandibular disorders: inherited connective tissue disease as a model with maximum expression. 24
15779539 2005
32
Type V collagen controls the initiation of collagen fibril assembly. 24
15383546 2004
33
Ehlers-Danlos Syndrome (EDS) focusing on oral symptoms: a questionnaire study. 24
15359504 2004
34
Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study. 24
14683542 2004
35
A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. 24
12723715 2003
36
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. 24
11992482 2002
37
Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. 24
12180144 2002
38
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. 24
11577371 2001
39
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). 24
9557891 1998
40
Case Report: Drug-induced Leukocytoclastic Vasculitis in a Patient with Classic Ehlers-Danlos Syndrome. 61
31788374 2019
41
Utilization of echocardiography in Ehlers-Danlos syndrome. 61
31328377 2019
42
Classic Ehlers-Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father. 61
31061749 2019
43
Biomechanical properties of the patellar tendon in children with heritable connective tissue disorders. 61
29623400 2018
44
Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events. 61
30261568 2018
45
Collagen V haploinsufficiency in a murine model of classic Ehlers-Danlos syndrome is associated with deficient structural and mechanical healing in tendons. 61
28387435 2017
46
Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections. 61
28734943 2017
47
Spontaneous rupture of a splenic aneurysm in classic Ehlers-Danlos syndrome. 61
27234128 2016
48
Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. 61
27292226 2016
49
Dilated aortic root and severe aortic regurgitation causing dilated cardiomyopathy in classic Ehlers-Danlos syndrome. 61
27413024 2016
50
Type V Collagen in Health, Disease, and Fibrosis. 61
26910848 2016

Variations for Classic Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Classic Ehlers-Danlos Syndrome:

6 (show top 50) (show all 997) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL5A1 NM_001278074.1(COL5A1):c.3906+3G>TSNV Pathogenic 17183 rs786200922 9:137705885-137705885 9:134814039-134814039
2 COL5A1 NM_001278074.1(COL5A1):c.5370+3_5370+6deldeletion Pathogenic 17184 rs786200923 9:137727053-137727056 9:134835207-134835210
3 COL5A1 NM_001278074.1(COL5A1):c.4916G>C (p.Cys1639Ser)SNV Pathogenic 17185 rs80338764 9:137716663-137716663 9:134824817-134824817
4 COL5A1 NM_000093.4(COL5A1):c.3259_3366del (p.Ser1088_Gly1123del)deletion Pathogenic 17186
5 COL5A1 NM_001278074.1(COL5A1):c.5137-11T>ASNV Pathogenic 17187 rs183495554 9:137726806-137726806 9:134834960-134834960
6 COL5A1 NM_001278074.1(COL5A1):c.2701-25T>GSNV Pathogenic 17188 rs765079080 9:137686903-137686903 9:134795057-134795057
7 COL5A1 NM_001278074.1(COL5A1):c.4466G>A (p.Gly1489Glu)SNV Pathogenic 17189 rs121912932 9:137711981-137711981 9:134820135-134820135
8 COL5A1 NM_001278074.1(COL5A1):c.3752del (p.Pro1251fs)deletion Pathogenic 17190 rs786205100 9:137704458-137704458 9:134812612-134812612
9 COL5A1 NM_001278074.1(COL5A1):c.2374C>T (p.Arg792Ter)SNV Pathogenic 17191 rs121912933 9:137666747-137666747 9:134774901-134774901
10 COL5A1 NM_001278074.1(COL5A1):c.655-2A>GSNV Pathogenic 17192 rs786205101 9:137619110-137619110 9:134727264-134727264
11 COL5A1 NM_000093.4(COL5A1):c.4339-1delGdeletion Pathogenic 17193 rs786205102 9:137710693-137710693 9:134818847-134818847
12 COL5A2 NM_000393.5(COL5A2):c.1924-2_1928deldeletion Pathogenic 17196 rs786205103 2:189927640-189927646 2:189062914-189062920
13 COL5A2 NM_000393.5(COL5A2):c.2031+1G>TSNV Pathogenic 17197 rs786205104 2:189926287-189926287 2:189061561-189061561
14 COL5A2 NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)SNV Pathogenic 17198 rs121912930 2:189907903-189907903 2:189043177-189043177
15 COL1A2 NM_000089.3(COL1A2):c.279+2T>CSNV Pathogenic 17233 rs72656357 7:94030934-94030934 7:94401622-94401622
16 COL5A1 NM_001278074.1(COL5A1):c.3184C>T (p.Arg1062Ter)SNV Pathogenic 29639 rs387906606 9:137696890-137696890 9:134805044-134805044
17 COL1A2 NM_000089.3(COL1A2):c.838G>A (p.Gly280Ser)SNV Pathogenic 35957 rs72656387 7:94038679-94038679 7:94409367-94409367
18 COL5A1 NM_001278074.1(COL5A1):c.2734C>T (p.Arg912Ter)SNV Pathogenic 213045 rs863223478 9:137686961-137686961 9:134795115-134795115
19 COL1A2 NM_000089.3(COL1A2):c.577G>A (p.Gly193Ser)SNV Pathogenic 265387 rs72656370 7:94035598-94035598 7:94406286-94406286
20 COL5A1 NM_001278074.1(COL5A1):c.3397C>T (p.Arg1133Ter)SNV Pathogenic 280931 rs886042045 9:137701059-137701059 9:134809213-134809213
21 COL5A1 NM_001278074.1(COL5A1):c.2034+1G>ASNV Pathogenic 281486 rs886042173 9:137655584-137655584 9:134763738-134763738
22 COL5A1 NM_001278074.1(COL5A1):c.3762del (p.Gly1255fs)deletion Pathogenic 374262 rs1057518653 9:137704468-137704468 9:134812622-134812622
23 COL5A1 NM_001278074.1(COL5A1):c.2203dup (p.Gln735fs)duplication Pathogenic 375637 rs1057519596 9:137659171-137659171 9:134767325-134767325
24 COL5A1 NM_001278074.1(COL5A1):c.4203del (p.Gly1402fs)deletion Pathogenic 409107 rs1060502255 9:137709650-137709650 9:134817804-134817804
25 COL5A1 NM_000093.4(COL5A1):c.4232delGdeletion Pathogenic 409114 rs1060502259 9:137710503-137710503 9:134818657-134818657
26 COL5A1 NC_000009.11:g.(?_137593017)_(137727050_?)deldeletion Pathogenic 417456 9:137593017-137727050 9:134701171-134835204
27 COL5A1 NM_001278074.1(COL5A1):c.226_227AG[1] (p.Arg76fs)short repeat Pathogenic 409087 rs1060502242 9:137582876-137582877 9:134691030-134691031
28 COL5A1 NM_001278074.1(COL5A1):c.1075G>T (p.Glu359Ter)SNV Pathogenic 409086 rs769752636 9:137622232-137622232 9:134730386-134730386
29 COL5A1 NM_001278074.1(COL5A1):c.2143G>T (p.Gly715Ter)SNV Pathogenic 409113 rs1060502258 9:137658855-137658855 9:134767009-134767009
30 COL5A1 NM_001278074.1(COL5A1):c.2988del (p.Gly997fs)deletion Pathogenic 409108 rs764693725 9:137693835-137693835 9:134801989-134801989
31 COL5A1 NM_001278074.1(COL5A1):c.2430+1G>ASNV Pathogenic 409094 rs1060502248 9:137671993-137671993 9:134780147-134780147
32 COL1A2 NM_000089.3(COL1A2):c.2314G>A (p.Gly772Ser)SNV Pathogenic 420022 rs72658185 7:94050339-94050339 7:94421027-94421027
33 COL1A2 NM_000089.3(COL1A2):c.874G>A (p.Gly292Ser)SNV Pathogenic 425663 rs906553840 7:94038715-94038715 7:94409403-94409403
34 COL1A2 NM_000089.3(COL1A2):c.1009G>A (p.Gly337Ser)SNV Pathogenic 425643 rs67865220 7:94039107-94039107 7:94409795-94409795
35 COL1A2 NM_000089.3(COL1A2):c.2835+1G>ASNV Pathogenic 425653 rs72659310 7:94054976-94054976 7:94425664-94425664
36 COL5A1 NM_001278074.1(COL5A1):c.4126dup (p.Ser1376fs)duplication Pathogenic 430182 rs1131691820 9:137708875-137708875 9:134817029-134817029
37 COL1A2 NM_000089.3(COL1A2):c.767G>T (p.Gly256Val)SNV Pathogenic 439504 rs67525025 7:94038110-94038110 7:94408798-94408798
38 COL1A2 NC_000007.13:g.(?_94024324)_(94028416_?)deldeletion Pathogenic 456800 7:94024324-94028416 7:94395012-94399104
39 COL1A2 NM_000089.3(COL1A2):c.2756G>A (p.Gly919Asp)SNV Pathogenic 456824 rs1554398261 7:94054511-94054511 7:94425199-94425199
40 COL1A2 NM_000089.3(COL1A2):c.1513G>A (p.Gly505Ser)SNV Pathogenic 456808 rs1554396679 7:94042404-94042404 7:94413092-94413092
41 COL1A2 NM_000089.3(COL1A2):c.2565+1G>ASNV Pathogenic 456819 rs72658198 7:94052431-94052431 7:94423119-94423119
42 COL1A2 NM_000089.3(COL1A2):c.389G>A (p.Gly130Asp)SNV Pathogenic 456836 rs72656360 7:94034161-94034161 7:94404849-94404849
43 COL1A2 NM_000089.3(COL1A2):c.279G>A (p.Met93Ile)SNV Pathogenic 456826 rs72656356 7:94030932-94030932 7:94401620-94401620
44 COL1A2 NM_000089.3(COL1A2):c.946G>A (p.Gly316Ser)SNV Pathogenic 456846 rs72656392 7:94039044-94039044 7:94409732-94409732
45 COL1A2 NM_000089.3(COL1A2):c.982G>A (p.Gly328Ser)SNV Pathogenic 456848 rs66612022 7:94039080-94039080 7:94409768-94409768
46 COL1A2 NM_000089.3(COL1A2):c.1072G>A (p.Gly358Ser)SNV Pathogenic 456802 rs66619856 7:94039590-94039590 7:94410278-94410278
47 COL1A2 NM_000089.3(COL1A2):c.920G>A (p.Gly307Asp)SNV Pathogenic 456845 rs72656390 7:94038904-94038904 7:94409592-94409592
48 COL5A1 NC_000009.11:g.(?_137582738)_(137655603_?)deldeletion Pathogenic 459648 9:137582738-137655603 9:134690892-134763757
49 COL5A1 NM_001278074.1(COL5A1):c.3752dup (p.Pro1253fs)duplication Pathogenic 459680 rs786205100 9:137704458-137704458 9:134812612-134812612
50 COL5A1 NM_001278074.1(COL5A1):c.3805C>T (p.Gln1269Ter)SNV Pathogenic 459681 rs1554805142 9:137704511-137704511 9:134812665-134812665

Expression for Classic Ehlers-Danlos Syndrome

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

Pathways for Classic Ehlers-Danlos Syndrome

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 COL5A2 COL5A1 COL1A2 COL1A1
2
Show member pathways
12.6 TNXB COL1A2 COL1A1
3
Show member pathways
12.6 COL5A2 COL5A1 COL1A2 COL1A1
4
Show member pathways
12.32 TNXB COL5A2 COL5A1 COL1A2 COL1A1
5
Show member pathways
12.28 COL5A2 COL5A1 COL1A2 COL1A1
6
Show member pathways
12.01 TNXB COL5A2 COL5A1 COL1A2 COL1A1
7
Show member pathways
11.74 TNXB COL1A2 COL1A1
8 11.68 COL1A2 COL1A1
9
Show member pathways
11.59 COL1A2 COL1A1
10 11.58 COL1A2 COL1A1
11 11.56 COL1A2 COL1A1
12 11.35 COL1A2 COL1A1
13 11.32 COL1A2 COL1A1
14 11.22 COL1A2 COL1A1
15 11.1 COL1A2 COL1A1
16 11.07 COL1A2 COL1A1
17 10.98 COL1A2 COL1A1
18 10.79 COL1A2 COL1A1
19 10.56 TNXB COL5A2 COL5A1 COL1A2
20 10.53 COL5A2 COL5A1 COL1A2 COL1A1

GO Terms for Classic Ehlers-Danlos Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.83 TNXB COL5A2 COL5A1 COL1A2 COL1A1
2 extracellular space GO:0005615 9.8 TNXB COL5A2 COL5A1 COL1A2 COL1A1
3 endoplasmic reticulum lumen GO:0005788 9.62 COL5A2 COL5A1 COL1A2 COL1A1
4 collagen trimer GO:0005581 9.46 COL5A2 COL5A1 COL1A2 COL1A1
5 collagen type V trimer GO:0005588 9.37 COL5A2 COL5A1
6 collagen-containing extracellular matrix GO:0062023 9.35 TNXB COL5A2 COL5A1 COL1A2 COL1A1
7 collagen type I trimer GO:0005584 9.26 COL1A2 COL1A1
8 extracellular matrix GO:0031012 9.02 TNXB COL5A2 COL5A1 COL1A2 COL1A1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.65 COL5A2 COL1A2 COL1A1
2 cellular response to amino acid stimulus GO:0071230 9.54 COL5A2 COL1A2 COL1A1
3 platelet activation GO:0030168 9.52 COL1A2 COL1A1
4 ossification GO:0001503 9.51 COL5A2 COL1A1
5 blood vessel development GO:0001568 9.5 COL5A1 COL1A2 COL1A1
6 collagen metabolic process GO:0032963 9.49 TNXB COL1A2
7 skin morphogenesis GO:0043589 9.46 COL1A2 COL1A1
8 collagen biosynthetic process GO:0032964 9.43 COL5A1 COL1A1
9 eye morphogenesis GO:0048592 9.4 COL5A2 COL5A1
10 extracellular matrix organization GO:0030198 9.35 TNXB COL5A2 COL5A1 COL1A2 COL1A1
11 skin development GO:0043588 9.33 COL5A2 COL5A1 COL1A1
12 negative regulation of endodermal cell differentiation GO:1903225 9.26 COL5A2 COL5A1
13 collagen fibril organization GO:0030199 9.02 TNXB COL5A2 COL5A1 COL1A2 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.37 TNXB COL5A1
2 platelet-derived growth factor binding GO:0048407 9.33 COL5A1 COL1A2 COL1A1
3 protease binding GO:0002020 9.32 COL1A2 COL1A1
4 SMAD binding GO:0046332 9.26 COL5A2 COL1A2
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL5A2 COL5A1 COL1A2 COL1A1
6 extracellular matrix structural constituent GO:0005201 9.02 TNXB COL5A2 COL5A1 COL1A2 COL1A1

Sources for Classic Ehlers-Danlos Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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