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CEDS
MCID: CLS054
MIFTS: 56

Classic Ehlers-Danlos Syndrome (CEDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Classic Ehlers-Danlos Syndrome

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MalaCards integrated aliases for Classic Ehlers-Danlos Syndrome:

Name: Classic Ehlers-Danlos Syndrome 24 19
Ehlers-Danlos Syndrome, Classic Type 24 19 28 5
Classical Ehlers-Danlos Syndrome 19 58
Ehlers-Danlos Syndrome, Type 2 5
Ehlers-Danlos Syndrome Type 1 19
Ehlers-Danlos Syndrome Type 2 19
Eds, Classic Type 24
Classical Eds 58
Ceds 58

Characteristics:


Inheritance:

Classical Ehlers-Danlos Syndrome: Autosomal dominant 58

Prevelance:

Classical Ehlers-Danlos Syndrome: 1-9/100000 (Worldwide) 58

Age Of Onset:

Classical Ehlers-Danlos Syndrome: Childhood,Infancy,Neonatal 58

GeneReviews:

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

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases Skin diseases Oral diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 32
ICD11: 33
Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Sources

Summaries for Classic Ehlers-Danlos Syndrome

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GARD: 19 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 genetic changes in COL5A1 or COL5A2, two genes which encode type V collagen. In rare cases, genetic changes in the gene encoding type I collagen, COL1A1 gene, may be found. The condition is inherited in an autosomal dominant manner.

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 ehlers-danlos syndrome, classic type, 1. An important gene associated with Classic Ehlers-Danlos Syndrome is COL5A1 (Collagen Type V Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Thrombin and Hemostatics have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are striae distensae and hyperextensible skin

Orphanet: 58 A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.

GeneReviews: NBK1244
Sources

Related Diseases for Classic Ehlers-Danlos Syndrome

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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
Tnxb-Related Classical-Like Ehlers-Danlos Syndrome

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

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, classic type, 2 31.8 LOC101448202 COL5A2 COL5A1
2 ehlers-danlos syndrome, classic type, 1 31.0 LOC101448202 COL5A2 COL5A1 COL1A2 COL1A1
3 caspase 8 deficiency 30.5 TNXB COL5A2 COL5A1
4 inguinal hernia 30.1 TGFBR1 COL5A1
5 hypermobile ehlers-danlos syndrome 29.8 TNXB LOC101448202 COL5A2 COL5A1 COL1A1
6 connective tissue disease 29.8 TNXB COL5A2 COL5A1 COL1A2 COL1A1
7 marfan syndrome 29.4 TGFBR1 COL5A2 COL1A2 COL1A1
8 ehlers-danlos syndrome 29.2 TNXB TGFBR1 LOC101448202 COL5A2 COL5A1 COL1A2
9 hypermobility syndrome 29.2 TNXB COL5A2 COL5A1 COL1A2 COL1A1
10 brittle bone disorder 29.2 TNXB COL5A2 COL5A1 COL1A2 COL1A1
11 aortic aneurysm, familial thoracic 4 29.0 TGFBR1 LOC101448202 COL5A2 COL5A1 COL1A1
12 orthostatic intolerance 29.0 TNXB TGFBR1 COL5A2 COL5A1 COL1A2 COL1A1
13 loeys-dietz syndrome 28.8 TNXB TGFBR1 COL5A2 COL5A1 COL1A2 COL1A1
14 aortic aneurysm, familial thoracic 1 28.5 TGFBR1 LOC101448202 COL5A2 COL5A1 COL1A2 COL1A1
15 tnxb-related classical-like ehlers-danlos syndrome 11.4
16 cutis laxa, autosomal recessive, type ia 11.3
17 cutis laxa, autosomal dominant 1 11.3
18 ehlers-danlos syndrome, classic-like 11.3
19 cutis laxa, autosomal recessive, type ic 11.3
20 ehlers-danlos syndrome, vascular type 10.4
21 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
22 enterocele 10.3
23 vascular disease 10.3
24 scoliosis 10.3
25 teeth, supernumerary 10.2
26 von willebrand disease, type 1 10.2
27 von willebrand's disease 10.2
28 fibrochondrogenesis 2 10.1 COL5A2 COL5A1
29 fibrochondrogenesis 10.1 COL5A2 COL5A1
30 hypoascorbemia 10.1
31 aortic valve disease 2 10.1
32 dilated cardiomyopathy 10.1
33 gastroenteritis 10.1
34 cutis laxa 10.1
35 aortic valve insufficiency 10.1
36 vasculitis 10.1
37 hypersensitivity vasculitis 10.1
38 48,xyyy 10.1
39 hypotonia 10.1
40 drug-induced vasculitis 10.1
41 aortic aneurysm, familial abdominal, 1 10.1
42 ehlers-danlos syndrome, classic-like, 2 10.1
43 respiratory failure 10.1
44 allergic disease 10.1
45 aortic aneurysm 10.1
46 periodontal ehlers-danlos syndrome 10.1
47 chronic pain 10.1
48 epicondylitis 10.1 COL5A1 COL1A1
49 nail-patella syndrome 10.1 COL5A2 COL5A1
50 ehlers-danlos syndrome, hypermobility type 10.0 TNXB COL5A1

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



Diseases related to Classic Ehlers-Danlos Syndrome
Sources

Symptoms & Phenotypes for Classic Ehlers-Danlos Syndrome

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Human phenotypes related to Classic Ehlers-Danlos Syndrome:

58 30 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 striae distensae 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001065
2 hyperextensible skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000974
3 cigarette-paper scars 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001073
4 fragile skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001030
5 generalized joint laxity 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002761
6 soft, doughy skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001027
7 osteopenia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000938
8 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001252
9 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001324
10 gastroesophageal reflux 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002020
11 vomiting 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002013
12 fatigue 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012378
13 poor wound healing 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001058
14 muscle spasm 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003394
15 nausea 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002018
16 chronic constipation 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012450
17 pulp calcification 30 Frequent (33%) HP:0003771
18 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002650
19 inguinal hernia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000023
20 umbilical hernia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001537
21 pes planus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001763
22 acrocyanosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001063
23 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000286
24 arterial dissection 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0005294
25 rectal prolapse 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002035
26 motor delay 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001270
27 talipes equinovarus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001762
28 arthralgia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002829
29 prematurely aged appearance 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007495
30 joint swelling 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001386
31 hip dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002827
32 patellar dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002999
33 bladder diverticulum 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000015
34 bruising susceptibility 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000978
35 prolonged bleeding time 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003010
36 osteoarthritis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002758
37 premature birth 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001622
38 hiatus hernia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002036
39 aortic root aneurysm 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002616
40 dislocated radial head 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003083
41 shoulder dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003834
42 arterial rupture 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0025019
43 uterine prolapse 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000139
44 arteriovenous fistula 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004947
45 abnormal cornea morphology 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000481
46 piezogenic pedal papules 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0025509
47 limb pain 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0009763
48 phalangeal dislocation 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0006243
49 ecchymosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0031364
50 dilatation of the cerebral artery 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0004944

MGI Mouse Phenotypes related to Classic Ehlers-Danlos Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.55 COL1A1 COL1A2 COL5A1 COL5A2 TGFBR1
2 cardiovascular system MP:0005385 9.43 COL1A1 COL1A2 COL5A1 COL5A2 TGFBR1 TNXB
3 integument MP:0010771 9.1 COL1A1 COL1A2 COL5A1 COL5A2 TGFBR1 TNXB
Sources

Drugs & Therapeutics for Classic Ehlers-Danlos Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational
2 Hemostatics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Disordered Bleeding in Ehlers Danlos Syndromes Enrolling by invitation NCT05434728
2 Decrypting the Ultrastructural Collagen Markers Using Quantitative Nano Histology: A Quest for Newer Diagnostic Test in Hypermobile Ehlers-Danlos Syndrome Enrolling by invitation NCT05429996

Search NIH Clinical Center for Classic Ehlers-Danlos Syndrome

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Genetic Tests for Classic Ehlers-Danlos Syndrome

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Genetic tests related to Classic Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Classic Type 28
Sources

Anatomical Context for Classic Ehlers-Danlos Syndrome

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Organs/tissues related to Classic Ehlers-Danlos Syndrome:

MalaCards : Skin, Bone, Heart, Skeletal Muscle, Spinal Cord, Cortex, Cerebellum
Sources

Publications for Classic Ehlers-Danlos Syndrome

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Articles related to Classic Ehlers-Danlos Syndrome:

(show top 50) (show all 301)
# Title Authors PMID Year
1
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 62 24 5
23587214 2013
2
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. 62 24 5
22696272 2012
3
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. 62 24 5
15580559 2005
4
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 62 24 5
10739762 2000
5
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. 24 5
9783710 1998
6
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. 24 5
9425231 1998
7
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
8
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 5
30675029 2019
9
Ehlers-Danlos syndrome, classical type. 62 24
28192633 2017
10
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 5
27510842 2017
11
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
12
Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. 62 24
21193204 2011
13
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. 5
20648054 2010
14
Collagen structure and stability. 5
19344236 2009
15
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 5
17078022 2007
16
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. 5
16816023 2006
17
Oral health in prevalent types of Ehlers-Danlos syndromes. 62 24
15817074 2005
18
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. 5
15077201 2004
19
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. 62 24
11992482 2002
20
Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro(alpha)2(I) chain and an EDS/OI clinical phenotype. 5
11288717 2001
21
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. 62 24
10777716 2000
22
The human type I collagen mutation database. 5
9016532 1997
23
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). 5
8923000 1996
24
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. 5
7749416 1995
25
Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 5
7695699 1994
26
Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 5
8218237 1993
27
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. 5
3372533 1988
28
A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain. 5
2993307 1985
29
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. 5
6092353 1984
30
Variation among DNA banking consent forms: points for clinicians to bank on. 24
35834113 2022
31
The Ehlers-Danlos syndromes, rare types. 24
28306225 2017
32
The 2017 international classification of the Ehlers-Danlos syndromes. 24
28306229 2017
33
Timing, rates and spectra of human germline mutation. 24
26656846 2016
34
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
35
Skin extensibility and consistency in patients with Ehlers-Danlos syndrome and benign joint hypermobility syndrome. 24
19169910 2009
36
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
37
Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes. 24
16353246 2006
38
Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. 24
15728585 2005
39
Generalized joint hypermobility and temporomandibular disorders: inherited connective tissue disease as a model with maximum expression. 24
15779539 2005
40
Type V collagen controls the initiation of collagen fibril assembly. 24
15383546 2004
41
Ehlers-Danlos Syndrome (EDS) focusing on oral symptoms: a questionnaire study. 24
15359504 2004
42
Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study. 24
14683542 2004
43
A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. 24
12723715 2003
44
Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. 24
12180144 2002
45
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
46
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
10796876 2000
47
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? 24
10602121 2000
48
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). 24
9557891 1998
49
Evaluation of the simulated aerosol optical properties over India: COALESCE model inter-comparison of three GCMs with ground and satellite observations. 62
36055485 2022
50
Classical Ehlers-Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2. 62
36447672 2022
Sources

Variations for Classic Ehlers-Danlos Syndrome

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ClinVar genetic disease variations for Classic Ehlers-Danlos Syndrome:

5 (show top 50) (show all 469)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL5A1 NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter) SNV Pathogenic
 930611 rs1837850102 GRCh37: 9:137686958-137686958
GRCh38: 9:134795112-134795112
2 COL5A2 NM_000393.5(COL5A2):c.1159-60_2031+62dup DUP Pathogenic
 976315 GRCh37: 2:189926225-189926226
GRCh38: 2:189061499-189061500
3 COL5A2 NM_000393.5(COL5A2):c.1924-2_1928del DEL Pathogenic
 17196 rs786205103 GRCh37: 2:189927640-189927646
GRCh38: 2:189062914-189062920
4 COL5A2 NM_000393.5(COL5A2):c.2031+1G>T SNV Pathogenic
 17197 rs786205104 GRCh37: 2:189926287-189926287
GRCh38: 2:189061561-189061561
5 COL5A2 NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg) SNV Pathogenic
 17198 rs121912930 GRCh37: 2:189907903-189907903
GRCh38: 2:189043177-189043177
6 COL5A1 NM_000093.5(COL5A1):c.2203dup (p.Gln735fs) DUP Pathogenic
 375637 rs1057519596 GRCh37: 9:137659166-137659167
GRCh38: 9:134767320-134767321
7 COL5A1 and overlap with 1 gene(s) NC_000009.12:g.(?_134701171)_(134835204_?)del DEL Pathogenic
 417456 GRCh37: 9:137593017-137727050
GRCh38: 9:134701171-134835204
8 COL5A1 NC_000009.12:g.(?_134690892)_(134763757_?)del DEL Pathogenic
 459648 GRCh37: 9:137582738-137655603
GRCh38: 9:134690892-134763757
9 COL5A2 NM_000393.5(COL5A2):c.3148-2A>G SNV Pathogenic
 518427 rs1553513971 GRCh37: 2:189912990-189912990
GRCh38: 2:189048264-189048264
10 COL5A2 NM_000393.5(COL5A2):c.2553+2del DEL Pathogenic
 518425 rs1553514506 GRCh37: 2:189918148-189918148
GRCh38: 2:189053422-189053422
11 COL5A2 NM_000393.5(COL5A2):c.1617+4A>G SNV Pathogenic
 518428 rs1553515517 GRCh37: 2:189929726-189929726
GRCh38: 2:189065000-189065000
12 COL5A2 NM_000393.5(COL5A2):c.4298del (p.Ile1433fs) DEL Pathogenic
 518426 rs1553512393 GRCh37: 2:189899697-189899697
GRCh38: 2:189034971-189034971
13 COL5A1 NM_000093.5(COL5A1):c.1720-136_1929del DEL Pathogenic
 573641 GRCh37: 9:137645560-137650136
GRCh38: 9:134753714-134758290
14 COL5A1, LOC101448202 NM_000093.5(COL5A1):c.5336_5337delinsG (p.Asn1779fs) INDEL Pathogenic
 638817 rs1588615658 GRCh37: 9:137727016-137727017
GRCh38: 9:134835170-134835171
15 COL5A1, LOC101448202 NM_000093.5(COL5A1):c.5155G>T (p.Glu1719Ter) SNV Pathogenic
 642115 rs776640704 GRCh37: 9:137726835-137726835
GRCh38: 9:134834989-134834989
16 COL5A1 NC_000009.12:g.(?_134690902)_(134727407_?)del DEL Pathogenic
 662836 GRCh37: 9:137582748-137619253
GRCh38: 9:134690902-134727407
17 COL5A1, LOC101448202 NC_000009.12:g.134824601del DEL Pathogenic
 802532 rs1588597744 GRCh37: 9:137716445-137716445
GRCh38: 9:134824599-134824599
18 COL1A2 NM_000089.4(COL1A2):c.857_875del (p.Gly286fs) DEL Pathogenic
 802334 rs1584319045 GRCh37: 7:94038696-94038714
GRCh38: 7:94409384-94409402
19 COL1A2 NM_000089.4(COL1A2):c.2674-3T>G SNV Pathogenic
 835669 rs72659303 GRCh37: 7:94054426-94054426
GRCh38: 7:94425114-94425114
20 COL1A2 NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu) SNV Pathogenic
 860577 rs1791913210 GRCh37: 7:94040405-94040405
GRCh38: 7:94411093-94411093
21 COL5A2 NM_000393.5(COL5A2):c.2919dup (p.Asp974fs) DUP Pathogenic
 863014 rs1685782021 GRCh37: 2:189916057-189916058
GRCh38: 2:189051331-189051332
22 COL5A1 GRCh37/hg19 9q34.3(chr9:137496881-137648441) CN LOSS Pathogenic
 625555 GRCh37: 9:137496881-137648441
GRCh38:
23 COL5A1 NM_000093.5(COL5A1):c.4338+1G>A SNV Pathogenic
 619958 rs1564481053 GRCh37: 9:137710610-137710610
GRCh38: 9:134818764-134818764
24 COL1A2 NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser) SNV Pathogenic
 934568 rs1792308325 GRCh37: 7:94056957-94056957
GRCh38: 7:94427645-94427645
25 COL1A2 NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg) SNV Pathogenic
 934873 rs72658174 GRCh37: 7:94049880-94049880
GRCh38: 7:94420568-94420568
26 COL5A1 NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter) SNV Pathogenic
 451603 rs1554796176 GRCh37: 9:137658852-137658852
GRCh38: 9:134767006-134767006
27 COL5A1 NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs) INDEL Pathogenic
 966713 rs1834879370 GRCh37: 9:137623371-137623373
GRCh38: 9:134731525-134731527
28 COL1A2 NC_000007.14:g.(?_94395012)_(94399104_?)del DEL Pathogenic
 456800 GRCh37: 7:94024324-94028416
GRCh38: 7:94395012-94399104
29 COL1A2 NC_000007.14:g.(?_94395012)_(94395818_?)del DEL Pathogenic
 526903 GRCh37: 7:94024324-94025130
GRCh38: 7:94395012-94395818
30 COL5A1 NC_000009.12:g.(?_134752569)_(134752665_?)del DEL Pathogenic
 529307 GRCh37: 9:137644415-137644511
GRCh38: 9:134752569-134752665
31 COL1A2 NC_000007.13:g.(?_94037139)_(94037712_?)dup DUP Pathogenic
 584403 GRCh37: 7:94037139-94037712
GRCh38: 7:94407827-94408400
32 COL5A1 NC_000009.12:g.(?_134642178)_(134701343_?)del DEL Pathogenic
 830770 GRCh37: 9:137534024-137593189
GRCh38:
33 COL5A1 NC_000009.12:g.(?_134782657)_(134842313_?)del DEL Pathogenic
 831806 GRCh37: 9:137674503-137734159
GRCh38:
34 COL5A1 NC_000009.12:g.(?_134699889)_(134700142_?)del DEL Pathogenic
 583819 GRCh37: 9:137591735-137591988
GRCh38: 9:134699889-134700142
35 COL1A2 NC_000007.13:g.(?_94037139)_(94038155_?)dup DUP Pathogenic
 640462 GRCh37: 7:94037139-94038155
GRCh38: 7:94407827-94408843
36 COL5A1 and overlap with 1 gene(s) NC_000009.12:g.(?_134642178)_(134768473_?)del DEL Pathogenic
 655757 GRCh37: 9:137534024-137660319
GRCh38: 9:134642178-134768473
37 overlap with 4 genes NC_000002.12:g.(?_188974480)_(189580648_?)del DEL Pathogenic
 830862 GRCh37: 2:189839206-190445374
GRCh38:
38 COL1A1 NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) SNV Pathogenic
 17343 rs72645347 GRCh37: 17:48273698-48273698
GRCh38: 17:50196337-50196337
39 COL5A1 NM_000093.5(COL5A1):c.3762del (p.Gly1255fs) DEL Pathogenic
 374262 rs1057518653 GRCh37: 9:137704468-137704468
GRCh38: 9:134812622-134812622
40 COL1A2 NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser) SNV Pathogenic
 425643 rs67865220 GRCh37: 7:94039107-94039107
GRCh38: 7:94409795-94409795
41 COL5A1 NM_000093.4(COL5A1):c.3369_3431dup DUP Pathogenic
 978465 rs1838416489 GRCh37: 9:137701027-137701028
GRCh38: 9:134809181-134809182
42 COL5A1 NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) DUP Pathogenic/Likely Pathogenic
 459680 rs786205100 GRCh37: 9:137704452-137704453
GRCh38: 9:134812606-134812607
43 COL5A1, LOC101448202 NC_000009.12:g.(?_134834951)_(134835224_?)del DEL Likely Pathogenic
 529308 GRCh37: 9:137726797-137727070
GRCh38: 9:134834951-134835224
44 COL5A1 NC_000009.11:g.(?_137582738)_(137593199_?)dup DUP Likely Pathogenic
 459647 GRCh37: 9:137582738-137593199
GRCh38: 9:134690892-134701353
45 COL5A2 NM_000393.5(COL5A2):c.2553+1G>T SNV Likely Pathogenic
 1723124 GRCh37: 2:189918149-189918149
GRCh38: 2:189053423-189053423
46 overlap with 2 genes NC_000002.11:g.(?_189839206)_(189950508_?)del DEL Likely Pathogenic
 1066734 GRCh37: 2:189839206-189950508
GRCh38:
47 COL5A1 NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) SNV Likely Pathogenic
 209143 rs777625241 GRCh37: 9:137591883-137591883
GRCh38: 9:134700037-134700037
48 COL5A1, LOC101448202 NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) SNV Likely Pathogenic
 827999 rs1588621711 GRCh37: 9:137734018-137734018
GRCh38: 9:134842172-134842172
49 TGFBR1 NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp) SNV Likely Pathogenic
 625133 rs1564161224 GRCh37: 9:101900141-101900141
GRCh38: 9:99137859-99137859
50 COL5A1, LOC101448202 NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC INDEL Likely Pathogenic
 971250 rs1839537297 GRCh37: 9:137721890-137721898
GRCh38: 9:134830044-134830052
Sources

Expression for Classic Ehlers-Danlos Syndrome

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

Pathways for Classic Ehlers-Danlos Syndrome

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

(show all 35)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.5 TGFBR1 COL5A2 COL5A1 COL1A2 COL1A1
2
Signal Transduction 66
13.45 TGFBR1 COL5A2 COL5A1 COL1A2 COL1A1
3
Integrin Pathway 64
Show member pathways
 13.1 TGFBR1 COL5A2 COL5A1 COL1A2 COL1A1
4
Phospholipase-C Pathway 64
Show member pathways
 12.8 TGFBR1 COL5A2 COL5A1 COL1A2 COL1A1
5
PI3K-Akt signaling pathway 74
Show member pathways
 12.66 TNXB COL5A2 COL5A1 COL1A2 COL1A1
6
Signaling by Receptor Tyrosine Kinases 66
12.56 COL1A1 COL1A2 COL5A1 COL5A2
7
Collagen chain trimerization 66
Show member pathways
 12.53 COL5A2 COL5A1 COL1A2 COL1A1
8
Extracellular matrix organization 66
Show member pathways
 12.36 TNXB COL5A2 COL5A1 COL1A2 COL1A1
9
MET promotes cell motility 66
Show member pathways
 12.18 COL5A2 COL5A1 COL1A2 COL1A1
10
Focal adhesion 74
12.03 TNXB COL5A2 COL1A2 COL1A1
11
Non-integrin membrane-ECM interactions 66
Show member pathways
 11.93 COL1A1 COL1A2 COL5A1 COL5A2
12
ECM proteoglycans 66
Show member pathways
 11.78 TNXB COL5A2 COL5A1 COL1A2 COL1A1
13
Integrin signaling 66
Show member pathways
 11.65 COL1A2 COL1A1
14
CCL18 signaling pathway 74
11.64 COL1A2 COL1A1
15
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.61 COL1A2 COL1A1
16
Signaling by PDGF 66
Show member pathways
 11.59 COL5A2 COL5A1
17
Microglia pathogen phagocytosis pathway 74
Show member pathways
 11.53 COL1A2 COL1A1
18
Burn wound healing 74
11.52 COL1A2 COL1A1
19
Cell adhesion_ECM remodeling 22
11.42 COL1A2 COL1A1
20
IL4-mediated signaling events 61
11.41 COL1A2 COL1A1
21
NRP1-triggered signaling pathways in pancreatic cancer 74
11.4 TGFBR1 COL1A2 COL1A1
22
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.33 COL1A1 COL1A2
23
Integrins in angiogenesis 61
11.31 COL5A2 COL5A1 COL1A2 COL1A1
24
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.27 TGFBR1 COL1A1
25
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.2 COL1A2 COL1A1
26
Beta3 integrin cell surface interactions 61
11.2 COL1A2 COL1A1
27
Type I collagen synthesis in the context of osteogenesis imperfecta 74
11.12 COL1A2 COL1A1
28
Inflammatory response pathway 74
11.11 COL1A2 COL1A1
29
Platelet Adhesion to exposed collagen 66
Show member pathways
 11.02 COL1A2 COL1A1
30
Angiotensin II receptor type 1 pathway 74
10.99 TGFBR1 COL1A2 COL1A1
31
VEGFR3 signaling in lymphatic endothelium 61
10.96 COL1A2 COL1A1
32
miRNA targets in ECM and membrane receptors 74
10.84 TNXB COL5A2 COL5A1 COL1A2
33
miR-509-3p alteration of YAP1/ECM axis 74
10.8 COL5A1 COL1A1
34
G-protein signaling_Rap2B regulation pathway 22
10.75 COL5A2 COL5A1 COL1A2 COL1A1
35
Syndecan-1-mediated signaling events 61
10.4 COL5A2 COL5A1 COL1A2 COL1A1
Sources

GO Terms for Classic Ehlers-Danlos Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 10.01 COL5A2 COL5A1 COL1A2 COL1A1
2 collagen-containing extracellular matrix GO:0062023 9.85 COL1A1 COL1A2 COL5A1 COL5A2 TNXB
3 collagen type XI trimer GO:0005592 9.67 COL5A2 COL5A1
4 extracellular matrix GO:0031012 9.65 TNXB COL5A2 COL5A1 COL1A2 COL1A1
5 collagen type V trimer GO:0005588 9.62 COL5A2 COL5A1
6 collagen type I trimer GO:0005584 9.56 COL1A2 COL1A1
7 collagen trimer GO:0005581 8.92 COL5A2 COL5A1 COL1A2 COL1A1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cellular response to amino acid stimulus GO:0071230 9.93 COL1A1 COL1A2 COL5A2
2 blood vessel development GO:0001568 9.91 COL5A1 COL1A2 COL1A1
3 skin morphogenesis GO:0043589 9.81 COL1A2 COL1A1
4 collagen metabolic process GO:0032963 9.8 TNXB COL1A2
5 skin development GO:0043588 9.8 COL1A1 COL5A1 COL5A2
6 collagen biosynthetic process GO:0032964 9.78 COL5A1 COL1A1
7 positive regulation of epithelial to mesenchymal transition GO:0010718 9.77 TNXB TGFBR1 COL1A1
8 skeletal system development GO:0001501 9.76 TGFBR1 COL5A2 COL1A2 COL1A1
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.71 TNXB TGFBR1
10 eye morphogenesis GO:0048592 9.71 COL5A2 COL5A1
11 skeletal system morphogenesis GO:0048705 9.7 TGFBR1 COL1A1
12 extracellular matrix organization GO:0030198 9.65 TNXB COL5A2 COL5A1 COL1A2 COL1A1
13 negative regulation of endodermal cell differentiation GO:1903225 9.56 COL5A2 COL5A1
14 collagen fibril organization GO:0030199 9.4 TNXB TGFBR1 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 SMAD binding GO:0046332 9.73 TGFBR1 COL5A2 COL1A2
2 platelet-derived growth factor binding GO:0048407 9.63 COL5A1 COL1A2 COL1A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.56 COL5A2 COL5A1 COL1A2 COL1A1
4 extracellular matrix structural constituent GO:0005201 9.32 TNXB COL5A2 COL5A1 COL1A2 COL1A1
Sources

Sources for Classic Ehlers-Danlos Syndrome

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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