Periodontal Ehlers-Danlos Syndrome (PEDS)

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

Aliases & Classifications for Periodontal Ehlers-Danlos Syndrome

MalaCards integrated aliases for Periodontal Ehlers-Danlos Syndrome:

Name: Periodontal Ehlers-Danlos Syndrome 20 58
Ehlers-Danlos Syndrome, Periodontitis Type 20 58
Ehlers-Danlos Syndrome Type 8 20 58
Periodontal Eds 20 58
Eds Viii 20 58
Peds 20 58
Ehlers-Danlos Syndrome, Periodontosis Type 20
Ehlers-Danlos Syndrome Periodontal Type 36
Ehlers-Danlos Syndrome, Type Viii 70


Orphanet epidemiological data:

periodontal ehlers-danlos syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;


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

External Ids:

KEGG 36 H02240
ICD10 via Orphanet 33 Q79.6
UMLS via Orphanet 71 C0268347
Orphanet 58 ORPHA75392
UMLS 70 C0268347

Summaries for Periodontal Ehlers-Danlos Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 75392 Definition Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. Clinical description EDS type VIII is the rarest form of EDS and is characterized by severe early-onset periodontal disease in conjunction with the presence of plaques of scar tissue in the pretibial zones (hyperpigmented atrophic scars). The periodontitis is generalized with early-onset (appearing at puberty) and may lead to loss of teeth before 30 years of age, and alveolar bone deterioration. The joint hyperlaxity and cutaneous hyperelasticity are variable. Most patients have short stature and orofacial characteristics such as micrognathia, gingival hyperplasia with varying degrees of hyperkeratosis, and agenesis or microdontia of multiple teeth, accompanied sometimes by increased sensitivity to infection. Etiology The syndrome appears to be genetically heterogeneous. However, analysis of several patients has led to the identification of a potential gene locus on chromosome 12p13. Genetic counseling The syndrome is transmitted in an autosomal dominant manner. Management and treatment There is no specific treatment for the disease but symptomatic management of the dental anomalies is essential.

MalaCards based summary : Periodontal Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome, periodontitis type, is related to ehlers-danlos syndrome and ehlers-danlos syndrome, periodontal type, 1, and has symptoms including hoarseness An important gene associated with Periodontal Ehlers-Danlos Syndrome is C1R (Complement C1r), and among its related pathways/superpathways are Complement and coagulation cascades and Immune response Lectin induced complement pathway. The drugs Ephedrine and Phenylephrine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and ovary, and related phenotypes are short stature and periodontitis

KEGG : 36 Ehlers-Danlos syndrome periodontal type (EDSPD) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. EDSPD is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement.

Related Diseases for Periodontal Ehlers-Danlos Syndrome

Diseases in the Periodontal Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Periodontal Type, 1 Ehlers-Danlos Syndrome, Periodontal Type, 2

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.6 C1S C1R
2 ehlers-danlos syndrome, periodontal type, 1 30.1 C1S C1R
3 ehlers-danlos syndrome, periodontal type, 2 29.8 C1S C1R
4 gingival recession 29.8 C1S C1R
5 periodontitis 10.5
6 hypermobile ehlers-danlos syndrome 10.4
7 periodontitis, aggressive, 1 10.1
8 dowling-degos disease 1 10.1
9 ataxia and polyneuropathy, adult-onset 10.1
10 b-lymphoblastic leukemia/lymphoma 10.1
11 severe acute respiratory syndrome 10.1
12 thrombophilia due to thrombin defect 10.0
13 hepatitis c 10.0
14 hepatitis 10.0
15 apnea, obstructive sleep 9.8
16 hirschsprung disease 1 9.8
17 pectus excavatum 9.8
18 autism 9.8
19 ocular motor apraxia 9.8
20 dermatitis, atopic 9.8
21 body mass index quantitative trait locus 1 9.8
22 restless legs syndrome 9.8
23 sleep apnea 9.8
24 autism spectrum disorder 9.8
25 non-alcoholic fatty liver disease 9.8
26 amnestic disorder 9.8
27 brucellosis 9.8
28 hepatitis a 9.8
29 hepatic coma 9.8
30 hepatic encephalopathy 9.8
31 dermatitis 9.8
32 contact dermatitis 9.8
33 bronchiolitis 9.8
34 allergic contact dermatitis 9.8
35 skin disease 9.8
36 liver disease 9.8
37 pustulosis of palm and sole 9.8
38 endophthalmitis 9.8
39 sleep disorder 9.8
40 end stage renal disease 9.8
41 psoriasis 9.8
42 48,xyyy 9.8
43 haemophilus influenzae 9.8
44 chronic pain 9.8
45 encephalopathy 9.8
46 traumatic brain injury 9.8
47 acute liver failure 9.8
48 immunodeficiency due to a classical component pathway complement deficiency 9.8 C1S C1R
49 complement deficiency 9.8 C1S C1R
50 congenital intrinsic factor deficiency 9.8 C1S C1R

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

Diseases related to Periodontal Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Periodontal Ehlers-Danlos Syndrome

Human phenotypes related to Periodontal Ehlers-Danlos Syndrome:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 periodontitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000704
3 hypermelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001034
4 atrophic scars 58 31 hallmark (90%) Very frequent (99-80%) HP:0001075
5 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
6 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
7 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
8 hyperextensible skin 58 31 frequent (33%) Frequent (79-30%) HP:0000974
9 agenesis of permanent teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006349
10 atrophy of alveolar ridges 58 31 frequent (33%) Frequent (79-30%) HP:0006308
11 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
12 premature loss of primary teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006323

UMLS symptoms related to Periodontal Ehlers-Danlos Syndrome:


Drugs & Therapeutics for Periodontal Ehlers-Danlos Syndrome

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

(show top 50) (show all 139)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Ephedrine Approved Phase 4 299-42-3 9294
Phenylephrine Approved Phase 4 59-42-7 6041
Pseudoephedrine Approved Phase 4 90-82-4 7028
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
5 Neurotransmitter Agents Phase 4
6 Anesthetics Phase 4
7 Pharmaceutical Solutions Phase 4
8 Protective Agents Phase 4
9 Adrenergic alpha-Agonists Phase 4
10 Adrenergic Agonists Phase 4
11 Vasoconstrictor Agents Phase 4
12 Cardiotonic Agents Phase 4
13 Respiratory System Agents Phase 4
14 Mydriatics Phase 4
15 Sympathomimetics Phase 4
16 Nasal Decongestants Phase 4
17 Adrenergic Agents Phase 4
Clomipramine Approved, Investigational, Vet_approved Phase 3 303-49-1 2801
Etanercept Approved, Investigational Phase 3 185243-69-0
Eplerenone Approved Phase 3 107724-20-9 443872 150310
Metformin Approved Phase 3 657-24-9 4091 14219
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
Drospirenone Approved Phase 3 67392-87-4 68873
Dulaglutide Approved, Investigational Phase 3 923950-08-7
25 Antibiotics, Antitubercular Phase 3
26 Anti-Bacterial Agents Phase 3
27 Analgesics Phase 3
28 Antidepressive Agents Phase 3
29 Psychotropic Drugs Phase 3
30 Serotonin Uptake Inhibitors Phase 3
31 Antidepressive Agents, Tricyclic Phase 3
32 Solifenacin succinate Phase 3 242478-38-2
33 Muscarinic Antagonists Phase 3
34 Cholinergic Agents Phase 3
35 Cholinergic Antagonists Phase 3
36 Analgesics, Non-Narcotic Phase 3
37 Gastrointestinal Agents Phase 3
38 Anti-Inflammatory Agents Phase 3
39 Anti-Inflammatory Agents, Non-Steroidal Phase 3
40 Mineralocorticoids Phase 3
41 Hormone Antagonists Phase 3
42 Mineralocorticoid Receptor Antagonists Phase 3
43 diuretics Phase 3
44 Hormones Phase 3
45 Diuretics, Potassium Sparing Phase 3
46 insulin Phase 3
47 Insulin, Globin Zinc Phase 3
48 Contraceptives, Oral Phase 3
49 Contraceptive Agents Phase 3
50 Biguanides Phase 3

Interventional clinical trials:

(show top 50) (show all 66)
# Name Status NCT ID Phase Drugs
1 Efficacy of Fixed Monthly Dosing of Lucentis® (Ranibizumab) on Subretinal Fluid (SRF) Associated With Persistent Pigment Epithelial Detachment (PED) in Neovascular Age-related Macular Degeneration (AMD): A Pilot Study Completed NCT02944227 Phase 4 Lucentis
2 PRedictive Factors and Changes From Treatment in Idiopathic Polypoidal Choroidal Vasuclopathy Versus Central Serous Chorioretinopathy Versus Neovascular Age Related Macular Degeneration With afLibercept Recruiting NCT02681783 Phase 4 aflibercept
3 Phase 4 Open Label Study to Determine Pharmacokinetics of Phenylephrine and Pharmacodynamic Effects on BP Via IV Admin of Phenylephrine Hydrochloride Inj in Ped Subjects (≥12 to 16 Years of Age) Undergoing Gen and Neuraxial Anesthesia Recruiting NCT02323399 Phase 4 Phenylephrine
4 The IAI-OCTA Study or; Microvascular Structure and Morphology of Neovascular Membranes in Age Related Macular Degeneration (AMD) After Intravitreal Aflibercept Injection (IAI) Therapy Using OCT-Angiography Analysis Active, not recruiting NCT03022292 Phase 4 Aflibercept Ophthalmic
5 PROcalcitonin to SHORTen Antibiotics Duration in PEDiatricICU Patients (ProShort-Ped) Trial Unknown status NCT01652404 Phase 3
6 A Phase 3, Double-Blind, Randomized, Multi-center, Placebo-Controlled Sequential Dose Titration Study to Assess Efficacy, Safety and Population Pharmacokinetics of Solifenacin Succinate Suspension in Pediatric Subjects From 5 to Less Than 18 Years of Age With Overactive Bladder (OAB) Completed NCT01565707 Phase 3 Solifenacin Succinate Suspension;Placebo
7 Placebo-controlled Multicenter Study With Etanercept to Determine Safety and Efficacy in Pediatric Subjects With Plaque Psoriasis (PEDS) Completed NCT00078819 Phase 3 Etanercept;Placebo
8 Peds II (Pediatric Eplerenone Development Study II)--An Open Label, Long-Term Study To Evaluate The Safety Of Eplerenone In The Treatment Of Hypertension In Children Completed NCT00147615 Phase 3 Eplerenone
9 Peds I (Pediatric Eplerenone Development Study I): A Randomized, Double-Blind, Placebo Withdrawal, Parallel Group, Dose-Response Study To Evaluate The Efficacy And Safety Of Eplerenone In The Treatment Of Hypertension In Children Completed NCT00147589 Phase 3 Eplerenone
10 Complete Occlusion of Coilable Aneurysms Completed NCT00777907 Phase 3
11 A Randomized, Double-blind, Placebo-controlled, Fixed Dose, Parallel Grouped, Multi-center Clinical Study to Evaluate the Safety and Efficacy of PED-1 in Male Patients With Premature Ejaculation Completed NCT01439984 Phase 3 Clomipramine
12 Effects of Metformin Versus Oral Contraceptives on PED/PEA-15 Protein Expression in Obese Women With Polycystic Ovary Syndrome Completed NCT00948402 Phase 3 Metformin;oral contraceptive
13 ST of TN-Salud Con La Familia: Prevent Onset of Ped Obesity Completed NCT00808431 Phase 2, Phase 3
14 ATLAS-PEDS: An Open-label, Multinational Study of Fitusiran Prophylaxis in Male Pediatric Subjects Aged 1 to Less Than 12 Years With Hemophilia A or B Recruiting NCT03974113 Phase 2, Phase 3 Fitusiran
15 A Randomized, Double-Blind Study With an Open-Label Extension Comparing the Effect of Once-Weekly Dulaglutide With Placebo in Pediatric Patients With Type 2 Diabetes Mellitus (AWARD-PEDS: Assessment of Weekly AdministRation of LY2189265 in Diabetes-PEDiatric Study) Active, not recruiting NCT02963766 Phase 3 Dulaglutide;Placebo
16 A Phase 3, Multicenter, Randomized, Double-blind, Active-Comparator-controlled Study to Evaluate the Safety, Tolerability, and Immunogenicity of a 4-dose Regimen of V114 in Healthy Infants (PNEU-PED) Active, not recruiting NCT03893448 Phase 3
17 A Phase 3, Multicenter, Randomized, Double-blind, Active Comparator-controlled Study to Evaluate the Safety, Tolerability, and Immunogenicity of V114 Followed by Administration of PNEUMOVAX™23 Eight Weeks Later in Children Infected With Human Immunodeficiency Virus (HIV) (PNEU-WAY PED) Active, not recruiting NCT03921424 Phase 3
18 A Phase 3, Multicenter, Randomized, Double-blind, Active-comparator-controlled Study to Evaluate the Safety, Tolerability, and Immunogenicity of V114 in Healthy Infants (PNEU-PED-EU-1) Active, not recruiting NCT04031846 Phase 3 Rotarix™;Infanrix™ hexa;V114;Prevenar 13™
19 A Phase 3, Multicenter, Randomized, Double-blind, Active-comparator-controlled Study to Evaluate the Safety, Tolerability, and Immunogenicity of a 3-dose Regimen of V114 in Healthy Infants (PNEU-PED-EU-2) Active, not recruiting NCT04016714 Phase 3 V114;Prevnar 13®;Vaxelis™;M-M-R®II;Varivax®
20 Peds. Multicenter Study Unknown status NCT00116233 Phase 2
21 A Randomized, Double-blind, Placebo-controlled, Fixed Dose, Parallel Grouped Clinical Study to Evaluate the Tolerability and to Determine the Adequate Dosage of PED-1 and PED-2 in Male Patients With Premature Ejaculation Completed NCT01203202 Phase 2 Clomipramine
22 A Randomized, Placebo-Controlled Multi-Site Phase 2 Study Evaluation the Safety and Efficacy of Preemptive Treatment With CMX001 for the Prevention of Adenovirus Disease Following Hematopoietic Stem Cell Transplantation in Adults and Children Completed NCT01241344 Phase 2 CMX001
23 Pediatric Hydroxyurea in Sickle Cell Anemia (PED HUG) Completed NCT00000602 Phase 2 hydroxyurea
24 Intravitreal Lucentis (iL) (Ranibizumab) for the Treatment of AMD Related Pigment Epithelial Detachment (PED) Completed NCT00841581 Phase 2 Ranibizumab
25 Multi-Institutional Prospective Pilot Study of Lupron to Enhance Lymphocyte Immune Reconstitution Following Allogeneic Bone Marrow Transplantation in Post-Pubertal Children and Adults With Molecular Imaging Evaluation Completed NCT01338987 Phase 2 Leuprolide;18F FLT;Cyclophosphamide;Methotrexate;Tacrolimus;Busulfan;Fludarabine
26 Myeloablative Allogeneic Hematopoietic Cell Transplantation Using a Related or Unrelated Donor for the Treatment of Hematological Diseases Recruiting NCT03314974 Phase 2
27 Allogeneic Hematopoietic Stem Cell Transplantation Using Reduced Intensity Conditioning (RIC) for the Treatment of Hematological Diseases [MT2015-32] Recruiting NCT02661035 Phase 2 Allopurinol;Fludarabine;Cyclophosphamide;ATG;Tacrolimus;MMF
28 ZEPLAST- PED: ZEro_PLASma Trial in Small Infants Undergoing Cardiac Surgery Randomized Controlled Pilot Phase II Study Recruiting NCT04434001 Phase 2 Fibrinogen Concentrate Human;Prothrombin Complex Concentrate
29 A Reactogenicity, Safety and Immunogenicity Study of GSK's Paediatric Herpes Zoster Subunit Candidate Vaccine (PED-HZ/su) GSK143713A in Immunocompromised Paediatric Renal Transplant Recipients Recruiting NCT04006808 Phase 2
30 Hypertension Intervention to Reduce Osteonecrosis in Children With Acute Lymphoblastic Leukemia/Lymphoma Recruiting NCT04401267 Phase 2 Intensive Antihypertensive Therapy;Conventional Antihypertensive Therapy
31 Allogeneic Hematopoietic Cell Transplantation Using α/β+ T-lymphocyte Depleted Grafts From HLA Mismatched Donors Active, not recruiting NCT03615105 Phase 2 Thiotepa;Cyclophosphamide;Busulfan;Fludarabine;Melphalan;Clofarabine;Rituximab
32 Phase 2, Randomized, Double-masked, Vehicle-controlled, Dose-escalation Study Evaluating Efficacy/Safety of Nexagon in Subjects With Persistent Corneal Epithelial Defects (PED) Resulting From Corneal Epithelial Debridement During Diabetic Vitrectomy Surgery, Herpes Simples Virus (HSV) Keratitis, Herpes Zoster Virus (HZV) Keratitis, Corneal Burns, Post-photorefractive Keratectomy (Post-PRK), or Post-corneal Transplant Surgery. Terminated NCT01165450 Phase 2 Nexagon;Vehicle only
33 A Phase 2, Randomized, Prospective, Double-masked, Vehicle-controlled, Dose-ranging Study to Evaluate the Efficacy and Safety of Nexagon® in Subjects With Persistent Corneal Epithelial Defects (PED) From Chemical Burn Injuries. Withdrawn NCT00821561 Phase 2 Nexagon®;Nexagon® vehicle
34 Single Dose Pharmacokinetic Study of CYCLOSET ® 0.8 mg Tablets Following Administration of a Weight-Adjusted Dose in Male and Female Children and Adolescent Type 2 Diabetes Mellitus Subjects VS-PEDS BA-2010-V4 Completed NCT02078440 Phase 1 Bromocriptine mesylate
35 A Multicenter, Open-label, Single-dose Study to Evaluate Pharmacokinetics, Safety and Tolerability of Solifenacin Succinate Suspension in Pediatric Subjects From 5 to Less Than 18 Years of Age With Neurogenic Detrusor Overactivity (NDO) Completed NCT01539707 Phase 1 Solifenacin succinate suspension 5 mg
36 Bioequivalence Study Between Temozolomide Oral Suspension (Ped-TMZ) and Temodal® Capsules Recruiting NCT04467346 Phase 1 Ped-TMZ
37 A Phase 1b Multi-Center, Open-Label and Randomized Study of iSONEP (Sonepcizumab/LT1009) Administered as Intravitreous Injections to Subjects With PED Secondary to Exudative Age-Related Macular Degeneration or Polypoidal Choroidal Vasculopathy Terminated NCT01334255 Phase 1 iSONEP (sonepcizumab/LT1009)
38 Neurocognitive Risks in Children With Solid Tumors Unknown status NCT03609112
39 A Pilot, Single-center, Interventional Clinical Trial in Which Subjects With Vascularized Pigment Epithelial Detachment (V-PED) Secondary to AMD With Serous Component Superior to 50% of the Lesion Will Receive Low Voltage Stereotactic Radiotherapy (IRay®) Treatment and Lucentis Treatment as Needed. Unknown status NCT01521819 Lucentis
40 Ketamine Compared to Propofol for Pediatric GI Endoscopy Completed NCT00614159 Ketamine;Propofol
41 Peds SM-THINk (Self-Management Transition to Home INtervention): Nursing Interventions to Improve Discharge Outcomes Completed NCT03539978
42 Smartphone Medical Applications to Reduce Treatment Dosage Errors in Pediatric Resuscitation; a Randomized Simulation Trial Completed NCT02958605
43 Aspects of Diabetes Technology (Insulin Pumps) Children Perspective, a Cross - Sectional Study Completed NCT04756011
44 Impact of the Continuous Measurement of Blood Glucose on Insulin Pump on Child Quality of Life With Type 1 Diabetes. A French Monocentric Prospective Study (IM-CAPT) Completed NCT03177096
45 Pipeline for Uncoilable or Failed Aneurysms Completed NCT00777088
46 Pediatric Emergency Department Smartphone Otoscope Study (PED-Oto) Completed NCT02918773
47 Intravitreal Aflibercept in Patients With Retinal Pigment Epithelial Detachment (PED) Secondary to Age Related Macular Degeneration (AMD) Completed NCT03370380 Aflibercept
48 Providing Adolescent Contraception in the Emergency Room (PACER) Completed NCT02475980
49 Telerehabilitation Intervention to Promote Exercise for Diabetes Completed NCT00334113
50 Multi-center, Randomized Intervention to Compare the Effects of 2 Dietary Programs on Cardiometabolic Risk Factors in Subjects With Metabolic Syndrome Completed NCT01010841

Search NIH Clinical Center for Periodontal Ehlers-Danlos Syndrome

Genetic Tests for Periodontal Ehlers-Danlos Syndrome

Anatomical Context for Periodontal Ehlers-Danlos Syndrome

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

Bone Marrow, Bone, Ovary

Publications for Periodontal Ehlers-Danlos Syndrome

Articles related to Periodontal Ehlers-Danlos Syndrome:

(show all 19)
# Title Authors PMID Year
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. 61 6
27745832 2016
Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness. 6
27663155 2016
Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type). 6
25485215 2014
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. 6
22739343 2013
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. 6
12776252 2003
Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII. 6
2260589 1990
A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. 6
890102 1977
Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature. 61
33005042 2021
Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome. 61
33498938 2021
The key role of the dental practitioner in early diagnosis of periodontal Ehlers-Danlos syndromes: a rare case report of siblings. 61
33433082 2021
The key role of the dental practitioner in early diagnosis of periodontal Ehlers-Danlos syndromes: a rare case report of siblings. 61
32954385 2020
Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy. 61
30535813 2019
Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes. 61
31921203 2019
Corrigendum: C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome. 61
31879527 2019
C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome. 61
31749804 2019
High risk of peri-implant disease in periodontal Ehlers-Danlos Syndrome. A case series. 61
30252959 2018
A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene. 61
30025171 2018
Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review. 61
28836281 2017
Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. 61
18284404 2008

Variations for Periodontal Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Periodontal Ehlers-Danlos Syndrome:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C1R NM_001733.7(C1R):c.890G>A (p.Gly297Asp) SNV Pathogenic 372129 rs1057519026 GRCh37: 12:7241461-7241461
GRCh38: 12:7088865-7088865
2 C1R NM_001733.7(C1R):c.1200_1215delinsTCATGTAATA (p.Arg401_Tyr405delinsHisValIle) Indel Pathogenic 375581 rs1057519580 GRCh37:
GRCh38: 12:7085919-7085934
3 C1R NM_001733.7(C1R):c.1092G>C (p.Trp364Cys) SNV Pathogenic 375579 rs1057519578 GRCh37:
GRCh38: 12:7086404-7086404
4 C1R NM_001733.7(C1R):c.1303T>C (p.Trp435Arg) SNV Pathogenic 375582 rs1060499554 GRCh37: 12:7189381-7189381
GRCh38: 12:7082077-7082077
5 C1R NM_001733.7(C1R):c.905A>G (p.Tyr302Cys) SNV Pathogenic 375577 rs1057519576 GRCh37: 12:7241446-7241446
GRCh38: 12:7088850-7088850
6 C1R NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) SNV Pathogenic 375580 rs1057519579 GRCh37:
GRCh38: 12:7086383-7086383
7 C1R NM_001733.7(C1R):c.1012T>C (p.Cys338Arg) SNV Pathogenic 375578 rs1057519577 GRCh37: 12:7241232-7241232
GRCh38: 12:7088636-7088636
8 C1R NM_001733.7(C1R):c.869A>G (p.Asp290Gly) SNV Pathogenic 267356 rs1057518643 GRCh37: 12:7241482-7241482
GRCh38: 12:7088886-7088886
9 C1R NM_001733.7(C1R):c.899T>C (p.Leu300Pro) SNV Pathogenic 267354 rs1057515579 GRCh37: 12:7241452-7241452
GRCh38: 12:7088856-7088856
10 C1R NM_001733.7(C1R):c.1073G>T (p.Cys358Phe) SNV Pathogenic 267351 rs1057518645 GRCh37:
GRCh38: 12:7086423-7086423
11 C1R NM_001733.7(C1R):c.902G>C (p.Arg301Pro) SNV Pathogenic 267352 rs760277934 GRCh37: 12:7241449-7241449
GRCh38: 12:7088853-7088853
12 C1R NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr) Indel Pathogenic 267355 rs1057518646 GRCh37: 12:7241317-7241327
GRCh38: 12:7088721-7088731
13 C1R NM_001733.7(C1R):c.927C>G (p.Cys309Trp) SNV Pathogenic 267353 rs769707492 GRCh37: 12:7241317-7241317
GRCh38: 12:7088721-7088721
14 C1R NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp) Indel Pathogenic 372130 rs1057519025 GRCh37: 12:7244129-7244130
GRCh38: 12:7091533-7091534
15 C1S NM_001734.5(C1S):c.880T>C (p.Cys294Arg) SNV Pathogenic 267349 rs886040975 GRCh37: 12:7173830-7173830
GRCh38: 12:7066526-7066526
16 C1S NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu) Deletion Pathogenic 267348 rs886040974 GRCh37: 12:7173895-7173897
GRCh38: 12:7066591-7066593
17 C1R NM_001733.7(C1R):c.1427_1428dup (p.Trp477fs) Duplication Pathogenic 973553 GRCh37: 12:7188525-7188526
GRCh38: 12:7081221-7081222
18 C1R NM_001733.7(C1R):c.336G>C (p.Met112Ile) SNV Uncertain significance 625897 rs139531404 GRCh37: 12:7242740-7242740
GRCh38: 12:7090144-7090144
19 C1R NM_001733.7(C1R):c.646C>A (p.Pro216Thr) SNV Uncertain significance 931271 GRCh37: 12:7242011-7242011
GRCh38: 12:7089415-7089415
20 C1R NM_001733.7(C1R):c.445C>T (p.Arg149Trp) SNV Uncertain significance 992508 GRCh37: 12:7242309-7242309
GRCh38: 12:7089713-7089713

Expression for Periodontal Ehlers-Danlos Syndrome

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

Pathways for Periodontal Ehlers-Danlos Syndrome

Pathways related to Periodontal Ehlers-Danlos Syndrome according to KEGG:

# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

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

# Super pathways Score Top Affiliating Genes
Show member pathways
11.57 C1S C1R
Show member pathways
11.48 C1S C1R
3 11.42 C1S C1R
4 11.14 C1S C1R
Show member pathways
10.86 C1S C1R
6 10.5 C1S C1R

GO Terms for Periodontal Ehlers-Danlos Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.62 C1S C1R

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

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.37 C1S C1R
2 proteolysis GO:0006508 9.32 C1S C1R
3 innate immune response GO:0045087 9.26 C1S C1R
4 complement activation, classical pathway GO:0006958 9.16 C1S C1R
5 regulation of complement activation GO:0030449 8.96 C1S C1R
6 complement activation GO:0006956 8.62 C1S C1R

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 C1S C1R
2 peptidase activity GO:0008233 9.16 C1S C1R
3 serine-type endopeptidase activity GO:0004252 8.96 C1S C1R
4 serine-type peptidase activity GO:0008236 8.62 C1S C1R

Sources for Periodontal Ehlers-Danlos Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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