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 52 58
Ehlers-Danlos Syndrome, Periodontitis Type 52 58
Ehlers-Danlos Syndrome Type 8 52 58
Eds Viii 52 58
Peds 52 58
Ehlers-Danlos Syndrome, Periodontosis Type 52
Ehlers-Danlos Syndrome Periodontal Type 36
Ehlers-Danlos Syndrome, Type Viii 71
Periodontal Eds 52


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 72 C0268347
Orphanet 58 ORPHA75392
UMLS 71 C0268347

Summaries for Periodontal Ehlers-Danlos Syndrome

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

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 Creation of C4 and C2 activators. The drugs Ranibizumab and Celecoxib have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are short stature and hypermelanotic macule

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 89)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.5 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 paroxysmal exertion-induced dyskinesia 12.1
5 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 11.5
6 glut1 deficiency syndrome 2 11.5
7 paroxysmal dyskinesia 11.3
8 periodontitis 10.5
9 diarrhea 10.5
10 hypermobile ehlers-danlos syndrome 10.4
11 polycystic ovary syndrome 10.3
12 bulimia nervosa 10.2
13 chronic kidney disease 10.2
14 eating disorder 10.2
15 aneurysm 10.2
16 dowling-degos disease 1 10.2
17 ataxia and polyneuropathy, adult-onset 10.2
18 leukemia, acute lymphoblastic 3 10.2
19 lung cancer 10.2
20 hepatitis c 10.2
21 kidney disease 10.2
22 diabetes mellitus 10.2
23 pulmonary embolism 10.2
24 small cell cancer of the lung 10.1
25 bronchitis 10.1
26 glioma 10.1
27 glial tumor 10.1
28 breast cancer 9.9
29 hepatocellular carcinoma 9.9
30 diabetes mellitus, noninsulin-dependent 9.9
31 esophageal cancer 9.9
32 diaphragmatic hernia, congenital 9.9
33 hirschsprung disease 1 9.9
34 hypercholesterolemia, familial, 1 9.9
35 palatopharyngeal incompetence 9.9
36 triiodothyronine receptor auxiliary protein 9.9
37 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
38 ocular motor apraxia 9.9
39 asthma 9.9
40 macular degeneration, age-related, 1 9.9
41 dermatitis, atopic 9.9
42 body mass index quantitative trait locus 1 9.9
43 ewing sarcoma 9.9
44 pachyonychia congenita 3 9.9
45 restless legs syndrome 9.9
46 vitamin b12 deficiency 9.9
47 metabolic acidosis 9.9
48 inguinal hernia 9.9
49 amnestic disorder 9.9
50 brucellosis 9.9

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 hypermelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001034
3 periodontitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000704
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 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
7 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
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 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Ranibizumab Approved Phase 4 347396-82-1 459903
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
3 Angiogenesis Inhibitors Phase 4
4 Pharmaceutical Solutions Phase 4
5 Analgesics Phase 4
6 Anti-Inflammatory Agents, Non-Steroidal Phase 4
7 Analgesics, Non-Narcotic Phase 4
8 Anti-Inflammatory Agents Phase 4
9 Antirheumatic Agents Phase 4
10 Cyclooxygenase Inhibitors Phase 4
11 Cyclooxygenase 2 Inhibitors Phase 4
Eplerenone Approved Phase 3 107724-20-9 150310 443872
Etanercept Approved, Investigational Phase 3 185243-69-0
Dulaglutide Approved, Investigational Phase 3 923950-08-7
15 Hormone Antagonists Phase 3
16 Mineralocorticoids Phase 3
17 Antihypertensive Agents Phase 3
18 Mineralocorticoid Receptor Antagonists Phase 3
19 Natriuretic Agents Phase 3
20 Diuretics, Potassium Sparing Phase 3
21 Hormones Phase 3
22 diuretics Phase 3
23 Gastrointestinal Agents Phase 3
24 Immunoglobulins Phase 3
25 Immunoglobulin Fc Fragments Phase 3
26 Hypoglycemic Agents Phase 3
27 Immunologic Factors Phase 3
28 Antibodies Phase 3
29 Coagulants Phase 2, Phase 3
30 Factor VIII Phase 2, Phase 3
Modafinil Approved, Investigational Phase 2 68693-11-8 4236
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
Busulfan Approved, Investigational Phase 2 55-98-1 2478
Mycophenolic acid Approved Phase 2 24280-93-1 446541
tannic acid Approved Phase 2 1401-55-4
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
Allopurinol Approved Phase 2 315-30-0 2094
Acetaminophen Approved Phase 2 103-90-2 1983
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
45 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
Promethazine Approved, Investigational Phase 2 60-87-7 4927
Cysteine Approved, Nutraceutical Phase 2 52-90-4 5862
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
protease inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 On-label tReatment With Intravitreal Aflibercept Injection for Patients With Persistent Pigment Epithelial Detachments in Neovascular AMD. Unknown status NCT01670162 Phase 4 Aflibercept
2 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
3 A Study to Investigate the Safety and Efficacy of Lucentis (Ranibizumab) in Patients With CNV Due to Causes Other Than AMD and in Patients Where Pigment Epithelial Detachments Are the Primary Manifestation of Their AMD. Completed NCT01628354 Phase 4 Ranibizumab
4 PRedictive Factors and Changes From Treatment in Idiopathic Polypoidal Choroidal Vasuclopathy Versus Central Serous Chorioretinopathy Versus Neovascular Age Related Macular Degeneration With afLibercept Not yet recruiting NCT02681783 Phase 4 aflibercept
5 The Impact of Genotype on Plasma and Cerebral Spinal Fluid Pharmacokinetics of Celecoxib in Children Not yet recruiting NCT01344200 Phase 4 Celecoxib
6 Complete Occlusion of Coilable Aneurysms Completed NCT00777907 Phase 3
7 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
8 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
9 Determining Optimal Treatment Algorithms for Macular Degeneration Pigment Epithelial Detachments Treated With Intraocular Lucentis Completed NCT00590694 Phase 2, Phase 3 ranibizumab
10 Phase 1 Study of Integration of Early Child Development Interventions in a Community Health Service in Sindh, Pakistan Completed NCT00715936 Phase 2, Phase 3
11 Placebo-controlled Multicenter Study With Etanercept to Determine Safety and Efficacy in Pediatric Subjects With Plaque Psoriasis (PEDS) Completed NCT00078819 Phase 3 Etanercept;Placebo
12 Family Lifestyle Overweight Prevention Program: Evaluation of a Weight Management Program for Mexican American Youth Completed NCT00454610 Phase 3
13 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) Recruiting NCT02963766 Phase 3 Dulaglutide;Placebo
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 Pediatric Traumatic Brain Injury Consortium: Hypothermia Terminated NCT00222742 Phase 3
16 Peds. Multicenter Study Unknown status NCT00116233 Phase 2
17 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
18 A Phase II Placebo-Controlled Trial of Modafinil to Improve Neurocognitive Deficits in Children Treated for a Primary Brain Tumor Completed NCT01381718 Phase 2 modafinil
19 A Comparison of Casting and Splinting in Pediatric Radial Buckle Fractures Completed NCT01010347 Phase 2
20 Myeloablative Allogeneic Hematopoietic Cell Transplantation Using a Related or Unrelated Donor for the Treatment of Hematological Diseases Recruiting NCT03314974 Phase 2
21 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
22 High Dose Lucentis for Persistent Pigment Epithelial Detachment in Neovascular Age-related Macular Degeneration - The HiPED Study Terminated NCT01189019 Phase 2 ranibizumab;ranibizumab
23 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
24 VidRT: Video Distraction During Radiation Therapy to Decrease Use of Pediatric Sedation Recruiting NCT03677531 Phase 1
25 Safety and Tolerability of Intravenous Fish Oil Lipid Emulsion in Children Undergoing Hematopoietic Cell Transplantation Recruiting NCT02512718 Phase 1 Omegaven;Soybean oil lipid emulsion
26 Evaluation of Cerebrospinal Fluid Concentration of Daptomycin (Cubicin¬) in Pediatric Patients With Gram-positive Bacterial Meningitis, Concurrently Receiving Standard Antimicrobial Therapy Terminated NCT01522105 Phase 1 Daptomycin
27 The Wildcat Wellness Coaching Trial: Home-based Obesity Prevention and Health Promotion in Children and Adolescents Unknown status NCT01845480
28 Better Nights, Better Days: Improving Psychosocial Health Outcomes in Children With Behavioural Insomnia Unknown status NCT02243501
29 Neonatal and Pediatric Studies Using a Bedside Respiratory Patient Monitoring System With the Functional Patient Monitoring PCBA-1 Completed NCT01797250
30 Topical Autologous Serum Eye Drops Combined With Silicone Hydrogen Lenses for theTreatment of Corneal Epithelial Defects Completed NCT02291731 Continuous use of topical autologous serum
31 Pipeline for Uncoilable or Failed Aneurysms Completed NCT00777088
32 Ketamine Compared to Propofol for Pediatric GI Endoscopy Completed NCT00614159 Ketamine;Propofol
33 Virtual Reality Analgesia During Pediatric Physical Therapy Completed NCT00993889
34 Yoga Therapy for Adolescents With Juvenile Idiopathic Arthritis Completed NCT03286933
35 Smartphone Medical Applications to Reduce Treatment Dosage Errors in Pediatric Resuscitation; a Randomized Simulation Trial Completed NCT02958605
36 Epithelial Healing and Visual Outcomes of Patients Using Omega-3 Supplements as an Adjunct Therapy Before and After Photorefractive Keratectomy (PRK) Surgery Completed NCT01059019
37 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
38 Home-based Pain Management Protocol for Children With Sickle Cell Disease Completed NCT00386048
39 Health Behaviors and Quality of Life in Pediatric Solid Organ Transplant Recipients Completed NCT00209196
40 Pedometers to Assess and Increase Physical Activity Among Children With Chronic Kidney Disease Completed NCT01270529
41 The Effects of Massage Therapy on Quality of Life in Youth and Young Adults With Cystic Fibrosis: A Pilot Study Completed NCT01729585
42 Peds SM-THINk (Self-Management Transition to Home INtervention): Nursing Interventions to Improve Discharge Outcomes Completed NCT03539978
43 Emergency Department Brief Intervention to Increase Carbon Monoxide Detector Use Completed NCT00959478
44 The Impact of Ear Pain Anticipatory Guidance Counseling on Otitis Related Visits in a Low Income Population Completed NCT02616458
45 Strategies to Vaccinate All Children for Influenza in a Practice Setting Completed NCT01403649
46 Academic Achievement in Children With Asthma Completed NCT02228499
47 Pharmacogenomic Profiling of Pediatric Patients on Psychotropic Medications in an Emergency Department Completed NCT02770339
48 High Concentration Continuous Flow Nitrous Oxide Use for Procedural-induced Pain or Anxiety During Pediatric Minor Procedures Completed NCT01911351 Nitrous Oxide
49 Children and Teens in Charge of Their Health: A Feasibility Study of Solution-focused Coaching to Foster Healthy Lifestyles in Children and Young People With Physical Disabilities Recruiting NCT03523806
50 Long Term Cognitive Impact of Pediatric Acute Renal Injury Recruiting NCT02372734

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:

Skin, Brain, Bone, Eye, Testes, Kidney, Lung

Publications for Periodontal Ehlers-Danlos Syndrome

Articles related to Periodontal Ehlers-Danlos Syndrome:

(show top 50) (show all 922)
# 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
National rotavirus vaccination programme implementation and gastroenteritis presentations: the paediatric emergency medicine perspective. 61
31197576 2020
Telehealth Increases Access to Care for Children Dealing with Suicidality, Depression, and Anxiety in Rural Emergency Departments. 61
32013779 2020
Three-dimensional choroidal vascularity index in acute central serous chorioretinopathy using swept-source optical coherence tomography. 61
31724090 2020
28834921 2020
A Solution-Focused Coaching Intervention with Children and Youth with Cerebral Palsy to Achieve Participation-Oriented Goals. 61
31939337 2020
Versatile use of catheter systems for deployment of the Pipeline embolization device: a comparison of biaxial and triaxial catheter systems. 61
31959632 2020
31922569 2020
Cruciferous Vegetable Consumption and Stomach Cancer: A Case-Control Study. 61
31094219 2020
Effects of Immersive Virtual Reality Headset Viewing on Young Children: Visuomotor Function, Postural Stability, and Motion Sickness. 61
31377280 2020
Prospective study on embolization of intracranial aneurysms with the pipeline device: the PREMIER study 1 year results. 61
31308197 2020
Developmental risk among Aboriginal children living in urban areas in Australia: the Study of Environment on Aboriginal Resilience and Child Health (SEARCH). 61
31931753 2020
Is parent engagement with a child health home-based record influenced by early child development and first-born status? hypotheses from a high-income countries' perspective. 61
32014711 2020
Towards the critical understanding of selected vibrational features in biologically important dicyano aromatic conjugated molecules: Importance of electron donating/withdrawal groups and geometry associated with dicyano group. 61
31369992 2020
Is Contrast Stasis After Pipeline Embolization Device Deployment Associated with Higher Aneurysm Occlusion Rates? 61
31525478 2020
Block versus Longitudinal Scheduling of Emergency Medicine Residents' Rotation in an Independent Children's Hospital: Pediatric Emergency Medicine Attending Faculty's Perspective. 61
32025400 2019
Finger-Prick Autologous Blood in the Treatment of Persistent Corneal Epithelial Defects. 61
31868852 2019
Positive effect of pentoxifylline on medication-related osteonecrosis of the jaw. 61
31863928 2019
Anxiety and Type 1 Diabetes Management: Guardian and Child Report in a Pediatric Endocrinology Clinic. 61
31982171 2019
Pipeline Embolization Device for Treatment of Craniocervical Internal Carotid Artery Dissections: Report of 3 Cases. 61
31491581 2019
Validation of an Electronic Surveillance Algorithm to Identify Patients With Post-Operative Surgical Site Infections Using National Surgical Quality Improvement Program Pediatric Data. 61
31886513 2019
[Severity scores for childhood psoriasis: A systematic literature review]. 61
31060749 2019
Pediatrician Perspectives on Feasibility and Acceptability of the MOCA-Peds 2017 Pilot. 61
31690710 2019
Pediatrician Perspectives on Learning and Practice Change in the MOCA-Peds 2017 Pilot. 61
31690712 2019
A Roadmap for the Student Pursuing a Career in Pediatric Emergency Medicine. 61
31913812 2019
The Care of Adult Patients in Pediatric Emergency Departments. 61
30853574 2019
Impact of Solution-Focused Coaching Training on Pediatric Rehabilitation Specialists: A longitudinal evaluation study. 61
31750748 2019
Transcranial Doppler ultrasound findings in children with moderate-to-severe traumatic brain injury following abusive head trauma. 61
31781914 2019
Poor Results of Flow Diversion as Salvage Treatment for Intracranial Aneurysm Rerupture After Surgical Clip Reconstruction. 61
31737462 2019
One and done? The effect of number of Pipeline embolization devices on aneurysm treatment outcomes. 61
31766960 2019
Flow diverters as a scaffold for treating direct carotid cavernous fistulas. 61
31266856 2019
Mechanical Thrombectomy of Acutely Occluded Flow-Diverters - Neuroendovascular Surgical Technique Demonstration: 2-Dimensional Operative Video. 61
31768547 2019
Mechanical Thrombectomy of Acutely Occluded Flow Diverters. 61
30892631 2019
Breathing Easier: Decreasing Tracheal Intubation-associated Adverse Events in the Pediatric ED and Urgent Care. 61
32010856 2019
Detection of Choroidal Neovascular Membrane Beneath Pigment Epithelial Detachment Using SD-OCTA. 61
31671194 2019
No differences in effectiveness and safety between pipeline embolization device and stent-assisted coiling for the treatment of communicating segment internal carotid artery aneurysms. 61
30998116 2019
Pipeline embolization device diameter is an important factor determining the efficacy of flow diversion treatment of small intracranial saccular aneurysms. 61
30926687 2019
Nitrofurantoin-melamine monohydrate (cocrystal hydrate): Probing the role of H-bonding on the structure and properties using quantum chemical calculations and vibrational spectroscopy. 61
31158769 2019
Perioperative Management and Factors Associated With Transfusion in Cranial Vault Reconstruction. 61
31449228 2019
Prospective evaluation of aflibercept in pigment epithelial detachments secondary to neovascular age related macular degeneration. 61
31564356 2019
Solution-Focused Coaching in Pediatric Rehabilitation: Perceived Therapist Impact. 61
31657268 2019
Teachers' role in identifying young children at risk for developmental delay and disabilities: Usefulness of the Parents Evaluation of Developmental Status tool. 61
31209902 2019
Selenium status in lactating mothers-infants and its potential protective role against the neurotoxicity of methylmercury, lead, manganese, and DDT. 61
31280027 2019
[Bilateral multifocal pigment epithelial detachments associated with inhaled corticosteroids]. 61
30627764 2019

Variations for Periodontal Ehlers-Danlos Syndrome

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
2 11.53 C1S C1R
Show member pathways
11.45 C1S C1R
Show member pathways
11.36 C1S C1R
Show member pathways
11.18 C1S C1R
6 10.94 C1S C1R
7 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 proteolysis GO:0006508 9.32 C1S C1R
2 innate immune response GO:0045087 9.26 C1S C1R
3 complement activation, classical pathway GO:0006958 9.16 C1S C1R
4 regulation of complement activation GO:0030449 8.96 C1S C1R
5 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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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