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CEDS
MCID: CLS054
MIFTS: 57

Classic Ehlers-Danlos Syndrome (CEDS)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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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 25 20
Ehlers-Danlos Syndrome, Classic Type 25 20 29 6
Classical Ehlers-Danlos Syndrome 20 58
Eds, Classic Type 25
Classical Eds 58
Ceds 58

Characteristics:

Orphanet epidemiological data:

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

GeneReviews:

25
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 Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 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 : 20 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 caspase 8 deficiency and ehlers-danlos syndrome, classic type, 2. 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 Integrin Pathway. The drugs Pembrolizumab and Panobinostat have been mentioned in the context of this disorder. Affiliated tissues include bone, skeletal muscle and heart, and related phenotypes are striae distensae and hyperextensible skin

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

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

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 caspase 8 deficiency 32.3 COL5A2 COL5A1
2 ehlers-danlos syndrome, classic type, 2 31.8 LOC101448202 COL5A2 COL5A1
3 ehlers-danlos syndrome, classic type, 1 30.5 TGFBR1 LOC101448202 COL5A2 COL5A1 COL1A2 COL1A1
4 osteogenesis imperfecta, type i 30.4 COL1A2 COL1A1
5 hypermobile ehlers-danlos syndrome 29.8 TNXB LOC101448202 COL5A2 COL5A1 COL1A1
6 orthostatic intolerance 29.7 TGFBR1 COL5A2 COL5A1 COL1A2
7 hypermobility syndrome 29.6 TNXB COL5A2 COL5A1 COL1A1
8 brittle bone disorder 29.4 TNXB COL5A2 COL5A1 COL1A2 COL1A1
9 loeys-dietz syndrome 29.3 TGFBR1 LOC101448202 COL5A2 COL5A1
10 ehlers-danlos syndrome 29.1 TNXB TGFBR1 LOC101448202 COL5A2 COL5A1 COL1A2
11 connective tissue disease 28.9 TNXB TGFBR1 COL5A2 COL5A1 COL1A2 COL1A1
12 cutis laxa, autosomal recessive, type ia 11.3
13 cutis laxa, autosomal dominant 1 11.3
14 ehlers-danlos syndrome, classic-like 11.3
15 cutis laxa, autosomal recessive, type ic 11.3
16 ehlers-danlos syndrome, vascular type 10.2
17 aneurysm 10.2
18 teeth, supernumerary 10.2
19 von willebrand disease, type 1 10.2
20 von willebrand's disease 10.2
21 epicondylitis 10.1 COL5A1 COL1A1
22 nail-patella syndrome 10.1 COL5A2 COL5A1
23 atrial standstill 1 10.1
24 inguinal hernia 10.1
25 dilated cardiomyopathy 10.1
26 cutis laxa 10.1
27 aortic valve insufficiency 10.1
28 vasculitis 10.1
29 48,xyyy 10.1
30 hypotonia 10.1
31 drug-induced vasculitis 10.1
32 alacrima, achalasia, and mental retardation syndrome 10.1
33 ehlers-danlos syndrome, classic-like, 2 10.1
34 chronic pain 10.1
35 tibialis tendinitis 10.1 TNXB COL5A2
36 preterm premature rupture of the membranes 10.1 COL5A2 COL5A1
37 carpal tunnel syndrome 10.1 COL5A1 COL1A1
38 frozen shoulder 10.0 TGFBR1 COL1A1
39 ehlers-danlos/osteogenesis imperfecta syndrome 10.0 COL1A2 COL1A1
40 col1a1/2 osteogenesis imperfecta 10.0 COL1A2 COL1A1
41 high bone mass osteogenesis imperfecta 10.0 COL1A2 COL1A1
42 arthrochalasia ehlers-danlos syndrome 10.0 COL1A2 COL1A1
43 fibrogenesis imperfecta ossium 10.0 COL1A2 COL1A1
44 ehlers-danlos syndrome, arthrochalasia type, 2 10.0 COL1A2 COL1A1
45 scleroderma, familial progressive 10.0 COL1A2 COL1A1
46 diffuse scleroderma 10.0 COL1A2 COL1A1
47 syndromic x-linked intellectual disability cabezas type 10.0 COL1A2 COL1A1
48 osteogenesis imperfecta, type v 10.0 COL1A2 COL1A1
49 ehlers-danlos syndrome, cardiac valvular type 10.0 COL1A2 COL1A1
50 aortic aneurysm, familial thoracic 1 10.0 TGFBR1 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 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 striae distensae 58 31 hallmark (90%) Very frequent (99-80%) HP:0001065
2 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
3 cigarette-paper scars 58 31 hallmark (90%) Very frequent (99-80%) HP:0001073
4 fragile skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001030
5 generalized joint laxity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002761
6 soft, doughy skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001027
7 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
8 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
9 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
10 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
11 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
12 poor wound healing 58 31 frequent (33%) Frequent (79-30%) HP:0001058
13 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
14 chronic constipation 58 31 frequent (33%) Frequent (79-30%) HP:0012450
15 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
16 pulp stones 58 31 frequent (33%) Frequent (79-30%) HP:0003771
17 hypotonia 31 frequent (33%) HP:0001252
18 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
19 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
20 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
21 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
22 acrocyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001063
23 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
24 arterial dissection 58 31 occasional (7.5%) Occasional (29-5%) HP:0005294
25 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
26 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
27 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
28 prematurely aged appearance 58 31 occasional (7.5%) Occasional (29-5%) HP:0007495
29 joint swelling 58 31 occasional (7.5%) Occasional (29-5%) HP:0001386
30 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
31 patellar dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002999
32 bladder diverticulum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000015
33 rectal prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0002035
34 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
35 prolonged bleeding time 58 31 occasional (7.5%) Occasional (29-5%) HP:0003010
36 osteoarthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002758
37 premature birth 58 31 occasional (7.5%) Occasional (29-5%) HP:0001622
38 hiatus hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002036
39 shoulder dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003834
40 aortic root aneurysm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002616
41 dislocated radial head 58 31 occasional (7.5%) Occasional (29-5%) HP:0003083
42 arterial rupture 58 31 occasional (7.5%) Occasional (29-5%) HP:0025019
43 uterine prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0000139
44 arteriovenous fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0004947
45 abnormal cornea morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000481
46 limb pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0009763
47 abnormality of the temporomandibular joint 58 31 occasional (7.5%) Occasional (29-5%) HP:0010754
48 phalangeal dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0006243
49 dilatation of the cerebral artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004944
50 blepharochalasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010749

MGI Mouse Phenotypes related to Classic Ehlers-Danlos Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 COL1A1 COL1A2 COL5A1 COL5A2 TGFBR1 TNXB
2 integument MP:0010771 9.43 COL1A1 COL1A2 COL5A1 COL5A2 TGFBR1 TNXB
3 normal MP:0002873 9.02 COL1A1 COL1A2 COL5A1 COL5A2 TGFBR1
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):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pembrolizumab Approved Phase 2 1374853-91-4
2
Panobinostat Approved, Investigational Phase 1, Phase 2 404950-80-7 6918837
3 Antirheumatic Agents Phase 2
4 Adjuvants, Immunologic Phase 2
5 Interleukin-4 Phase 2
6 Antineoplastic Agents, Immunological Phase 2
7 Histone Deacetylase Inhibitors Phase 1, Phase 2
8
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
9
Irinotecan Approved, Investigational Phase 1 97682-44-5, 100286-90-6 60838
10
Iodine Approved, Investigational Phase 1 7553-56-2 807
11
Edetic Acid Approved, Vet_approved Phase 1 60-00-4, 62-33-9 6049
12
Pentetic acid Approved Phase 1 67-43-6
13
Cadexomer iodine Experimental Phase 1 94820-09-4
14 Alkylating Agents Phase 1
15 Anesthetics Phase 1
16 Immunologic Factors Phase 1
17 Immunoglobulins Phase 1
18 Antibodies Phase 1
19 topoisomerase I inhibitors Phase 1
20 Vaccines Phase 1
21 Antibodies, Monoclonal Phase 1
22 Calamus Phase 1
23 Pharmaceutical Solutions Phase 1
24
Diethylenetriamine Phase 1 111-40-0 8111
25
tannic acid Approved 1401-55-4
26
Infliximab Approved 170277-31-3
27
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
28 Gastrointestinal Agents
29 Dermatologic Agents

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 An Open-Label Non-Randomized, Multi-Center Phase-2 Study of Convection-Enhanced Delivery (CED) of MDNA55 in Adults With Recurrent or Progressive Glioblastoma Completed NCT02858895 Phase 2 MDNA55
2 A Placebo-Controlled, Randomised, Double-Blind Trial to Assess the Safety and Efficacy of Intermittent Bilateral Intraputamenal (GDNF) Infusions Administered Via Convection Enhanced Delivery (CED) in Subjects With Parkinson&Apos;s Disease Completed NCT03652363 Phase 2 glial cell line-derived neurotrophic factor
3 A Phase 2, Open-label, Single-arm Study Evaluating the Efficacy, Safety and Tolerability of PVSRIPO and the Immune Checkpoint Inhibitor Pembrolizumab in the Treatment of Patients With Recurrent Glioblastoma Recruiting NCT04479241 Phase 2
4 An Open Label Single Arm Phase I/II Study of MTX110 Delivered by Convection-enhanced Delivery (CED) in Patients With Diffuse Intrinsic Pontine Glioma (DIPG) Previously Treated With External Beam Radiation Therapy Active, not recruiting NCT03566199 Phase 1, Phase 2 Panobinostat Nanoparticle Formulation MTX110;Convection-Enhanced Delivery (CED)
5 Phase II, Multi-center, Open-Label, Single-Arm Study of Intratumoral Infusion of PRX321 in Subjects With Glioblastoma Multiforme at First Recurrence or Progression Withdrawn NCT00797940 Phase 2 IL-4PE
6 Phase I Study of Convection Enhanced Delivery (CED) of IL13-PE38QQR Infusion After Resection Followed by Radiation Therapy With or Without Temozolomide in Patients With Newly Diagnosed Supratentorial Malignant Glioma Completed NCT00089427 Phase 1 IL13-PE38QQR;Temozolomide with radiation therapy
7 A Phase I Study Examining the Feasibility of Intermittent Convection-Enhanced Delivery (CED) of MTX110 for the Treatment of Children With Newly Diagnosed Diffuse Midline Gliomas Recruiting NCT04264143 Phase 1 Infusate with MTX110 and gadolinium
8 A Phase I and Early Efficacy Study of Convection Enhanced Delivery of Irinotecan Liposome Injection Using Real Time Imaging With Gadolinium in Children With Diffuse Intrinsic Pontine Glioma Recruiting NCT03086616 Phase 1 Convection Enhanced Delivery (CED) of Nanoliposomal irinotecan (nal-IRI)
9 Phase Ib Study of Oncolytic Polio/Rhinovirus Recombinant Against Recurrent Malignant Glioma in Children Recruiting NCT03043391 Phase 1
10 A Phase I Study of Convection-Enhanced Delivery of 124I-Omburtamab for Patients With Non-Progressive Diffuse Pontine Gliomas Previously Treated With External Beam Radiation Therapy Recruiting NCT01502917 Phase 1 Radioactive iodine-labeled monoclonal antibody omburtamab
11 A Phase 1 Open-Label Dose Escalation Safety Study of Convection Enhanced Delivery (CED) of Adeno-Associated Virus Encoding Glial Cell Line-Derived Neurotrophic Factor (AAV2-GDNF) in Subjects With Advanced Parkinson's Disease Active, not recruiting NCT01621581 Phase 1
12 A Dose Escalation Phase I Study Of Human- Recombinant Bone Morphogenetic Protein 4 Administrated Via Convection-Enhanced Delivery In Patients With Progressive And/Or Multiple Recurrent Glioblastoma Multiforme Active, not recruiting NCT02869243 Phase 1 hrBMP4
13 A Phase I Trial of Carboplatin Administered by Convection-Enhanced Delivery to Patients With Recurrent/Progressive Glioblastoma Multiforme Withdrawn NCT01317212 Phase 1 Peritumoural carboplatin administration.
14 Verbessertes Therapiemanagement für pädiatrische CED-Patienten Mit Chronisch-entzündlicher Darmerkrankung: Eine Randomisierte Multizentrische Studie, Welche Die Effektivität Einer Talspiegel-gesteuerten Infliximab-Erhaltungsphase Mit Dem herkömmlichen Dosierungsregime Vergleicht Trough Level Optimized Pediatric Inflammatory Bowel Disease Therapy: A Randomized Multicenter Study Comparing Effectiveness of Trough Level Optimized Infliximab Maintenance Therapy With Standard Dosing Regimen of Pediatric Patients With Crohn's Disease Unknown status NCT02522169 Infliximab
15 Assessment of Duodenal Epithelial Integrity in Celiac Disease With Mucosal Impedance Completed NCT03152279
16 A Pilot Trial of Intraparenchymally-Administered Topotecan Using Convection-Enhanced Delivery (CED) in Patients With Suspected Recurrent/Progressive WHO Grade III or IV (High Grade) Glioma Requiring Stereotactic Biopsy Completed NCT02278510 Early Phase 1 Topotecan;Gadolinium DTPA
17 Kids + Adolescents Research Learning On Tablet Teaching Aachen Recruiting NCT03833778
18 A Study of Intratumorally-Administered Topotecan Using Convection-Enhanced Delivery (CED) in Patients With Suspected Recurrent/Progressive World Health Organization (WHO) Grade III or IV (High Grade) Glioma Undergoing Stereotactic Biopsy Recruiting NCT03927274 Early Phase 1 Topotecan
19 Expanded Access Protocol for the Treatment of Glioblastoma With PVSRIPO Available NCT04599647
20 A Pilot Trial of Intraparenchymally-Administered Topotecan Using Convection-Enhanced Delivery (CED) in Patients With Suspected Recurrent/Progressive WHO Grade III or IV (High Grade) Glioma Undergoing A Clinically-Indicated Surgical Resection (IND 117,240) Terminated NCT02500459 Early Phase 1 topotecan
21 Pilot Trial of Intratumorally-Administered Topotecan Using Convection-Enhanced Delivery (CED) in Patients With Suspected Recurrent/Progressive World Health Organization (WHO) Grade III or IV (High Grade) Glioma Undergoing Stereotactic Biopsy (IND 117,240) Withdrawn NCT03193463 Early Phase 1 Topotecan (<=8cc);Topotecan (>8cc);Lower Does Topotecan

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 29
Sources

Anatomical Context for Classic Ehlers-Danlos Syndrome

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

40
Bone, Skeletal Muscle, Heart
Sources

Publications for Classic Ehlers-Danlos Syndrome

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Articles related to Classic Ehlers-Danlos Syndrome:

(show top 50) (show all 144)
# 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. 6 25 61
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. 25 6 61
22696272 2012
3
The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. 6 25 61
15580559 2005
4
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 25 6
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 25
10602121 2000
6
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. 6 25
9783710 1998
7
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. 6 25
9425231 1998
8
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. 6 61
20635400 2010
9
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
10
Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta. 6
31414283 2020
11
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 6
30675029 2019
12
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. 6
30715774 2019
13
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. 6
29595812 2018
14
Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome. 6
28714197 2018
15
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients. 6
28485813 2017
16
Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing. 6
28725987 2017
17
Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations. 6
26371943 2017
18
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 6
28810924 2017
19
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. 6
28378289 2017
20
Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 6
27510842 2017
21
Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. 6
28498836 2017
22
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 6
27509835 2016
23
Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. 6
27748872 2016
24
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. 6
27519266 2016
25
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
26
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. 6
26402641 2016
27
Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta. 6
26471105 2016
28
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. 6
26627451 2015
29
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. 6
26432670 2015
30
Dissecting Aneurysm of the Recurrent Artery of Heubner in a Patient With Osteogenesis Imperfecta. 6
26551090 2015
31
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 6
26177859 2015
32
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 6
25944380 2015
33
Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. 25 61
25597651 2015
34
Clinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV. 6
25835785 2015
35
Diagnosis of fetal osteogenesis imperfecta by multidisciplinary assessment: a retrospective study of 10 cases. 6
25289482 2015
36
Genetics of Osteoporosis in Children. 6
26138843 2015
37
Mutations in patients with osteogenesis imperfecta from consanguineous Indian families. 6
25450603 2015
38
Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure. 6
25146735 2014
39
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 6
24668929 2014
40
Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience. 6
24342908 2014
41
A rare case of osteogenesis imperfecta combined with complete tooth loss. 6
23934635 2014
42
Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome. 6
23692737 2013
43
Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome. 6
23548243 2013
44
Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. 6
24501682 2013
45
Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta. 6
22753364 2012
46
Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. 6
22589248 2012
47
The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. 6
21667357 2012
48
Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype. 6
22206639 2011
49
LOVD v.2.0: the next generation in gene variant databases. 6
21520333 2011
50
Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. 25 61
21193204 2011
Sources

Variations for Classic Ehlers-Danlos Syndrome

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ClinVar genetic disease variations for Classic Ehlers-Danlos Syndrome:

6 (show top 50) (show all 1729)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL5A1 NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter) SNV Pathogenic 930611 GRCh37: 9:137686958-137686958
GRCh38: 9:134795112-134795112
2 COL5A1 NM_001278074.1(COL5A1):c.2034+1G>A SNV Pathogenic 281486 rs886042173 GRCh37: 9:137655584-137655584
GRCh38: 9:134763738-134763738
3 COL5A1 NM_001278074.1(COL5A1):c.3762del (p.Gly1255fs) Deletion Pathogenic 374262 rs1057518653 GRCh37: 9:137704468-137704468
GRCh38: 9:134812622-134812622
4 COL5A1 NM_001278074.1(COL5A1):c.2203dup (p.Gln735fs) Duplication Pathogenic 375637 rs1057519596 GRCh37: 9:137659166-137659167
GRCh38: 9:134767320-134767321
5 COL5A1 NM_001278074.1(COL5A1):c.4203del (p.Gly1402fs) Deletion Pathogenic 409107 rs1060502255 GRCh37: 9:137709649-137709649
GRCh38: 9:134817803-134817803
6 COL5A1 and overlap with 1 gene(s) NC_000009.12:g.(?_134701171)_(134835204_?)del Deletion Pathogenic 417456 GRCh37: 9:137593017-137727050
GRCh38: 9:134701171-134835204
7 COL5A1 NM_001278074.1(COL5A1):c.2143G>T (p.Gly715Ter) SNV Pathogenic 409113 rs1060502258 GRCh37: 9:137658855-137658855
GRCh38: 9:134767009-134767009
8 COL5A1 NM_001278074.1(COL5A1):c.2430+1G>A SNV Pathogenic 409094 rs1060502248 GRCh37: 9:137671993-137671993
GRCh38: 9:134780147-134780147
9 COL5A1 NM_000093.4(COL5A1):c.4232delG Deletion Pathogenic 409114 rs1060502259 GRCh37: 9:137710501-137710501
GRCh38: 9:134818655-134818655
10 COL5A1 NM_001278074.1(COL5A1):c.1075G>T (p.Glu359Ter) SNV Pathogenic 409086 rs769752636 GRCh37: 9:137622232-137622232
GRCh38: 9:134730386-134730386
11 COL5A1 NM_001278074.1(COL5A1):c.2988del (p.Gly997fs) Deletion Pathogenic 409108 rs764693725 GRCh37: 9:137693829-137693829
GRCh38: 9:134801983-134801983
12 COL5A1 NM_001278074.1(COL5A1):c.226_227AG[1] (p.Arg76fs) Microsatellite Pathogenic 409087 rs1060502242 GRCh37: 9:137582874-137582875
GRCh38: 9:134691028-134691029
13 COL5A1 NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) Duplication Pathogenic 459671 rs1554803622 GRCh37: 9:137697005-137697006
GRCh38: 9:134805159-134805160
14 COL5A1 NC_000009.12:g.(?_134690892)_(134763757_?)del Deletion Pathogenic 459648 GRCh37: 9:137582738-137655603
GRCh38: 9:134690892-134763757
15 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.5299del (p.Leu1767fs) Deletion Pathogenic 459711 rs1554726279 GRCh37: 9:137726978-137726978
GRCh38: 9:134835132-134835132
16 COL5A1 NM_001278074.1(COL5A1):c.2988dup (p.Gly997fs) Duplication Pathogenic 459667 rs764693725 GRCh37: 9:137693828-137693829
GRCh38: 9:134801982-134801983
17 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.4656_4660del (p.Pro1553fs) Deletion Pathogenic 459702 rs1554807812 GRCh37: 9:137715273-137715277
GRCh38: 9:134823427-134823431
18 COL5A1 NM_001278074.1(COL5A1):c.3805C>T (p.Gln1269Ter) SNV Pathogenic 459681 rs1554805142 GRCh37: 9:137704511-137704511
GRCh38: 9:134812665-134812665
19 COL5A1 NC_000009.12:g.(?_134752569)_(134752665_?)del Deletion Pathogenic 529307 GRCh37: 9:137644415-137644511
GRCh38: 9:134752569-134752665
20 COL5A1 NM_000093.4(COL5A1):c.2389delG Deletion Pathogenic 569177 rs1564453833 GRCh37: 9:137671947-137671947
GRCh38: 9:134780101-134780101
21 COL5A1 NM_001278074.1(COL5A1):c.3684del (p.Leu1229fs) Deletion Pathogenic 568293 rs1564475090 GRCh37: 9:137703436-137703436
GRCh38: 9:134811590-134811590
22 COL5A1 NM_001278074.1(COL5A1):c.3309_3325dup (p.Pro1109fs) Duplication Pathogenic 568667 rs1564471440 GRCh37: 9:137698084-137698085
GRCh38: 9:134806238-134806239
23 COL5A1 NM_001278074.1(COL5A1):c.2897del (p.Pro966fs) Deletion Pathogenic 529237 rs1179967153 GRCh37: 9:137688741-137688741
GRCh38: 9:134796895-134796895
24 COL5A1 NM_001278074.1(COL5A1):c.1780C>T (p.Arg594Ter) SNV Pathogenic 519624 rs1554792869 GRCh37: 9:137646125-137646125
GRCh38: 9:134754279-134754279
25 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.4909del (p.Arg1637fs) Deletion Pathogenic 576449 rs1564487306 GRCh37: 9:137716654-137716654
GRCh38: 9:134824808-134824808
26 COL5A1 NM_000093.4(COL5A1):c.3746delG Deletion Pathogenic 573613 rs35002351 GRCh37: 9:137704450-137704450
GRCh38: 9:134812604-134812604
27 COL5A1 NM_000093.4(COL5A1):c.1720-136_1929del Deletion Pathogenic 573641 GRCh37: 9:137645560-137650136
GRCh38: 9:134753714-134758290
28 COL5A1 NM_001278074.1(COL5A1):c.2565del (p.Gly856fs) Deletion Pathogenic 578798 rs1564457102 GRCh37: 9:137676912-137676912
GRCh38: 9:134785066-134785066
29 COL5A1 NM_001278074.1(COL5A1):c.2164C>T (p.Gln722Ter) SNV Pathogenic 580705 rs1564446117 GRCh37: 9:137658876-137658876
GRCh38: 9:134767030-134767030
30 COL5A1 NM_001278074.1(COL5A1):c.1364del (p.Lys455fs) Deletion Pathogenic 580851 rs1564418237 GRCh37: 9:137623945-137623945
GRCh38: 9:134732099-134732099
31 COL5A1 NC_000009.12:g.(?_134699889)_(134700142_?)del Deletion Pathogenic 583819 GRCh37: 9:137591735-137591988
GRCh38: 9:134699889-134700142
32 COL5A1 NM_001278074.1(COL5A1):c.4338+1G>A SNV Pathogenic 619958 rs1564481053 GRCh37: 9:137710610-137710610
GRCh38: 9:134818764-134818764
33 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.5336_5337delinsG (p.Asn1779fs) Indel Pathogenic 638817 rs1588615658 GRCh37: 9:137727016-137727017
GRCh38: 9:134835170-134835171
34 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.5155G>T (p.Glu1719Ter) SNV Pathogenic 642115 rs776640704 GRCh37: 9:137726835-137726835
GRCh38: 9:134834989-134834989
35 COL5A1 NM_001278074.1(COL5A1):c.494G>A (p.Trp165Ter) SNV Pathogenic 646030 rs1588449879 GRCh37: 9:137593019-137593019
GRCh38: 9:134701173-134701173
36 COL5A1 and overlap with 1 gene(s) NC_000009.12:g.(?_134642178)_(134768473_?)del Deletion Pathogenic 655757 GRCh37: 9:137534024-137660319
GRCh38: 9:134642178-134768473
37 COL5A1 GRCh37/hg19 9q34.3(chr9:137496881-137648441) copy number loss Pathogenic 625555 GRCh37: 9:137496881-137648441
GRCh38:
38 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.4927C>T (p.Gln1643Ter) SNV Pathogenic 658666 rs1219304070 GRCh37: 9:137716674-137716674
GRCh38: 9:134824828-134824828
39 COL5A1 NM_001278074.1(COL5A1):c.297_304dup (p.Ile102fs) Duplication Pathogenic 659911 rs1588448655 GRCh37: 9:137591772-137591773
GRCh38: 9:134699926-134699927
40 COL5A1 NM_000093.5(COL5A1):c.2660del (p.Phe887fs) Deletion Pathogenic 660180 rs1588551159 GRCh37: 9:137681013-137681013
GRCh38: 9:134789167-134789167
41 COL5A1 NM_001278074.1(COL5A1):c.2425G>T (p.Glu809Ter) SNV Pathogenic 660562 rs1032017865 GRCh37: 9:137671987-137671987
GRCh38: 9:134780141-134780141
42 COL5A1 NM_001278074.1(COL5A1):c.2952+2_2952+3del Microsatellite Pathogenic 662439 rs1588562135 GRCh37: 9:137690307-137690308
GRCh38: 9:134798461-134798462
43 COL5A1 , LOC101448202 NM_001278074.1(COL5A1):c.4545_4549dup (p.Glu1517fs) Duplication Pathogenic 664381 rs1588589663 GRCh37: 9:137712059-137712060
GRCh38: 9:134820213-134820214
44 COL5A1 NC_000009.12:g.(?_134690902)_(134727407_?)del Deletion Pathogenic 662836 GRCh37: 9:137582748-137619253
GRCh38: 9:134690902-134727407
45 COL1A2 NM_000089.4(COL1A2):c.857_875del (p.Gly286fs) Deletion Pathogenic 802334 rs1584319045 GRCh37: 7:94038696-94038714
GRCh38: 7:94409384-94409402
46 COL5A1 , LOC101448202 NC_000009.12:g.134824601del Deletion Pathogenic 802532 rs1588597744 GRCh37: 9:137716445-137716445
GRCh38: 9:134824599-134824599
47 COL5A1 NC_000009.12:g.(?_134642178)_(134701343_?)del Deletion Pathogenic 830770 GRCh37: 9:137534024-137593189
GRCh38:
48 COL5A1 NC_000009.12:g.(?_134782657)_(134842313_?)del Deletion Pathogenic 831806 GRCh37: 9:137674503-137734159
GRCh38:
49 COL5A1 , LOC101448202 NM_000093.5(COL5A1):c.5293dup (p.Arg1765fs) Duplication Pathogenic 838207 GRCh37: 9:137726971-137726972
GRCh38: 9:134835125-134835126
50 COL5A1 NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter) SNV Pathogenic 840700 GRCh37: 9:137642705-137642705
GRCh38: 9:134750859-134750859
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 18)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 63
Show member pathways
 13.44 TGFBR1 COL5A2 COL5A1 COL1A2 COL1A1
2
Integrin Pathway 63
Show member pathways
 13 TGFBR1 COL5A2 COL5A1 COL1A2 COL1A1
3
Phospholipase-C Pathway 63
Show member pathways
 12.55 TGFBR1 COL5A2 COL5A1 COL1A2 COL1A1
4
Collagen chain trimerization 65
Show member pathways
 12.4 COL5A2 COL5A1 COL1A2 COL1A1
5
Focal Adhesion 36 1
Show member pathways
 12.32 TNXB COL5A2 COL5A1 COL1A2 COL1A1
6
Degradation of the extracellular matrix 65
Show member pathways
 12.01 TNXB COL5A2 COL5A1 COL1A2 COL1A1
7
ECM-receptor interaction 36
Show member pathways
 11.8 TNXB COL1A2 COL1A1
8
AGE-RAGE signaling pathway in diabetic complications 36
11.5 TGFBR1 COL1A2 COL1A1
9
IL4-mediated signaling events 1
11.38 COL1A2 COL1A1
10
Cell adhesion_ECM remodeling 23
11.34 COL1A2 COL1A1
11
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.26 COL1A2 COL1A1
12
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.19 TGFBR1 COL1A1
13
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 23
11.13 COL1A2 COL1A1
14
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
11.1 COL1A2 COL1A1
15
Inflammatory Response Pathway 1
11.01 COL1A2 COL1A1
16
VEGFR3 signaling in lymphatic endothelium 1
10.84 COL1A2 COL1A1
17
G-protein signaling_Rap2B regulation pathway 23
10.61 COL5A2 COL5A1 COL1A2 COL1A1
18
miRNA targets in ECM and membrane receptors 1
10.56 TNXB COL5A2 COL5A1 COL1A2
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 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 9.67 COL5A2 COL5A1 COL1A2 COL1A1
4 collagen-containing extracellular matrix GO:0062023 9.55 TNXB COL5A2 COL5A1 COL1A2 COL1A1
5 collagen type V trimer GO:0005588 9.32 COL5A2 COL5A1
6 collagen type I trimer GO:0005584 9.26 COL1A2 COL1A1
7 collagen trimer GO:0005581 9.26 COL5A2 COL5A1 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 14)
# Name GO ID Score Top Affiliating Genes
1 blood vessel development GO:0001568 9.61 COL5A1 COL1A2 COL1A1
2 cellular response to transforming growth factor beta stimulus GO:0071560 9.54 TGFBR1 COL1A1
3 cellular response to amino acid stimulus GO:0071230 9.54 COL5A2 COL1A2 COL1A1
4 positive regulation of epithelial to mesenchymal transition GO:0010718 9.52 TGFBR1 COL1A1
5 skeletal system morphogenesis GO:0048705 9.51 TGFBR1 COL1A1
6 skin development GO:0043588 9.5 COL5A2 COL5A1 COL1A1
7 collagen metabolic process GO:0032963 9.49 TNXB COL1A2
8 skin morphogenesis GO:0043589 9.48 COL1A2 COL1A1
9 collagen biosynthetic process GO:0032964 9.46 COL5A1 COL1A1
10 skeletal system development GO:0001501 9.46 TGFBR1 COL5A2 COL1A2 COL1A1
11 eye morphogenesis GO:0048592 9.4 COL5A2 COL5A1
12 extracellular matrix organization GO:0030198 9.35 TNXB COL5A2 COL5A1 COL1A2 COL1A1
13 negative regulation of endodermal cell differentiation GO:1903225 9.26 COL5A2 COL5A1
14 collagen fibril organization GO:0030199 9.1 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 9.43 TGFBR1 COL5A2 COL1A2
2 platelet-derived growth factor binding GO:0048407 9.33 COL5A1 COL1A2 COL1A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL5A2 COL5A1 COL1A2 COL1A1
4 extracellular matrix structural constituent GO:0005201 9.02 TNXB COL5A2 COL5A1 COL1A2 COL1A1
Sources

Sources for Classic Ehlers-Danlos Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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