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AEDS
MCID: ART153
MIFTS: 55

Arthrochalasia Ehlers-Danlos Syndrome (AEDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Arthrochalasia Ehlers-Danlos Syndrome

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MalaCards integrated aliases for Arthrochalasia Ehlers-Danlos Syndrome:

Name: Arthrochalasia Ehlers-Danlos Syndrome 52 58
Ehlers-Danlos Syndrome, Arthrochalasia Type 52 58 71
Arthrochalasis Multiplex Congenita 52 58
Aeds 52 58
Ehlers-Danlos Syndrome Arthrochalasia Type 36
Ehlers-Danlos Syndrome Type 7 58
Arthrochalasia Eds 52
Eds Vii 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

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


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Summaries for Arthrochalasia Ehlers-Danlos Syndrome

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NIH Rare Diseases : 52 Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen . Common symptoms include severe joint hypermobility ; congenital hip dislocation ; fragile, hyperextensible skin ; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis ). EDS, arthrochalasia type is caused by changes (mutations ) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

MalaCards based summary : Arthrochalasia Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome, arthrochalasia type, is related to ehlers-danlos syndrome, arthrochalasia type, 1 and scleroderma, familial progressive. An important gene associated with Arthrochalasia Ehlers-Danlos Syndrome is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Rufinamide and Clonazepam have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are muscular hypotonia and hip dysplasia

KEGG : 36 Ehlers-Danlos syndrome arthrochalasia type (EDSARTH) is a rare autosomal dominant disorder that is characterized by severe generalized joint hypermobility, with recurrent joint subluxations and luxations. Congenital bilateral hip dislocation at birth and muscular hypotonia are common.

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Related Diseases for Arthrochalasia Ehlers-Danlos Syndrome

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Diseases in the Arthrochalasia Ehlers-Danlos Syndrome family:

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

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

(show top 50) (show all 17380)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, arthrochalasia type, 1 32.7 COL1A1 ALB
2 scleroderma, familial progressive 31.3 COL1A2 COL1A1
3 spinal stenosis 31.2 COL1A2 COL1A1
4 stickler syndrome 31.0 COL1A2 COL1A1
5 brittle bone disorder 31.0 COL1A2 COL1A1
6 dentinogenesis imperfecta 31.0 COL1A2 COL1A1
7 osteogenesis imperfecta, type v 30.9 COL1A2 COL1A1
8 caffey disease 30.9 COL1A2 COL1A1
9 marfan syndrome 30.9 COL1A2 COL1A1
10 collagen disease 30.8 COL1A2 COL1A1
11 osteogenesis imperfecta, type vi 30.8 COL1A2 COL1A1
12 endosteal hyperostosis, autosomal dominant 30.8 COL1A2 COL1A1
13 osteogenesis imperfecta, type i 30.7 COL1A2 COL1A1
14 orthostatic intolerance 30.7 COL1A2 COL1A1
15 osteogenesis imperfecta, type ii 30.7 COL1A2 COL1A1
16 osteogenesis imperfecta, type iv 30.7 COL1A2 COL1A1
17 osteoporosis 30.6 COL1A2 COL1A1 ALB
18 osteogenesis imperfecta, type iii 30.6 COL1A2 COL1A1
19 ehlers-danlos syndrome 30.6 COL1A2 COL1A1
20 bruck syndrome 30.6 COL1A2 COL1A1
21 ehlers-danlos syndrome, arthrochalasia type, 2 30.5 COL1A2 COL1A1
22 ehlers-danlos syndrome, classic type, 1 30.5 COL1A2 COL1A1
23 phenylketonuria 30.5 COL1A2 COL1A1 ALB
24 pulmonary fibrosis, idiopathic 30.5 COL1A2 COL1A1 ALB
25 otosclerosis 30.5 COL1A2 COL1A1
26 scoliosis 30.5 COL1A2 COL1A1 ALB
27 osteoporosis, juvenile 30.5 COL1A2 COL1A1
28 classic ehlers-danlos syndrome 30.5 COL1A2 COL1A1
29 bone resorption disease 30.4 COL1A2 COL1A1 ALB
30 connective tissue disease 30.3 COL1A2 COL1A1 ALB
31 hypertrophic cardiomyopathy 30.3 COL1A2 COL1A1 ALB
32 pelvic organ prolapse 30.3 COL1A2 COL1A1
33 alport syndrome 30.2 COL1A2 COL1A1 ALB
34 odontochondrodysplasia 30.1 COL1A2 COL1A1
35 syndromic x-linked intellectual disability cabezas type 29.6 COL1A2 COL1A1
36 bone structure disease 29.4 COL1A2 COL1A1
37 diffuse scleroderma 29.4 COL1A2 COL1A1
38 bone development disease 29.4 COL1A2 COL1A1
39 x-linked alport syndrome 29.3 COL1A2 COL1A1
40 col1a1/2 osteogenesis imperfecta 29.3 COL1A2 COL1A1
41 bone remodeling disease 29.2 COL1A2 COL1A1 ALB
42 high bone mass osteogenesis imperfecta 28.4 COL1A2 COL1A1
43 larsen-like syndrome 28.3 COL1A2 COL1A1
44 type i ehlers-danlos syndrome 28.2 COL1A2 COL1A1
45 hypercarotenemia and vitamin a deficiency, autosomal dominant 12.5
46 immunoglobulin a deficiency 1 12.5
47 hepatitis a 12.5
48 hemophilia a 12.4
49 hypervitaminosis a 12.4
50 charcot-marie-tooth disease, recessive intermediate a 12.4

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



Diseases related to Arthrochalasia Ehlers-Danlos Syndrome
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Symptoms & Phenotypes for Arthrochalasia Ehlers-Danlos Syndrome

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Human phenotypes related to Arthrochalasia Ehlers-Danlos Syndrome:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 hip dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001385
3 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
4 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
5 hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002827
6 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
7 coxa valga 58 31 hallmark (90%) Very frequent (99-80%) HP:0002673
8 coxa vara 58 31 hallmark (90%) Very frequent (99-80%) HP:0002812
9 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
10 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
11 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
12 avascular necrosis of the capital femoral epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005743
13 muscle flaccidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0010547
14 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
15 echolalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010529
16 mutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002300
17 scarring 58 31 hallmark (90%) Very frequent (99-80%) HP:0100699
18 abnormality of subcutaneous fat tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0001001
19 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
20 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
21 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
22 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
23 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
24 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
25 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
26 femoral hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100541
27 joint dislocation 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Arthrochalasia Ehlers-Danlos Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 ALB COL1A1 COL1A2
Sources

Drugs & Therapeutics for Arthrochalasia Ehlers-Danlos Syndrome

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

(show top 50) (show all 143)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rufinamide Approved Phase 4 106308-44-5 129228
2
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
3
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
4
Nitrazepam Approved Phase 4 146-22-5 4506
5
Stiripentol Approved Phase 4 49763-96-4
6
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
7
Topiramate Approved Phase 4 97240-79-4 5284627
8
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
9
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
10
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
11
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
12
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
13
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
14
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
15
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
16
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
17
Haloperidol Approved Phase 4 52-86-8 3559
18
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
19
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
20
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
21
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
22
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
23
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
24
Probenecid Approved, Investigational Phase 4 57-66-9 4911
25
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
26
Citalopram Approved Phase 4 59729-33-8 2771
27
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
28
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
29
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
30
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
31
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
32 Tocotrienol Investigational Phase 4 6829-55-6
33 GABA Agonists Phase 4
34 Anticonvulsants Phase 4
35 Trace Elements Phase 4
36 Micronutrients Phase 4
37 Vitamins Phase 4
38 Nutrients Phase 4
39 Contraceptive Agents Phase 4
40 Hypoglycemic Agents Phase 4
41 Antipsychotic Agents Phase 4
42 Hydroxycholecalciferols Phase 4
43 Calciferol Phase 4
44 Tocopherols Phase 4
45 Tocotrienols Phase 4
46 Contraceptives, Oral Phase 4
47 Antiparasitic Agents Phase 4
48 Anti-Infective Agents Phase 4
49 Anesthetics Phase 4
50 Hypnotics and Sedatives Phase 4

Interventional clinical trials:

(show top 50) (show all 213)
# Name Status NCT ID Phase Drugs
1 Study to Improve the Treatment of Epilepsy (SITE). A Randomized Study Comparing Adjustment of Treatment to Reduce Side Effects of Antiepileptic Drugs With Continuing Treatment Unchanged Unknown status NCT00133081 Phase 4 All registered antiepileptic drugs
2 A Randomized Controlled Trial of Generic Substitution of Antiepileptic Drugs Unknown status NCT02429596 Phase 4 Experimental
3 Effects of Perampanel on Cognition and Electroencephalography in Patients With Epilepsy Unknown status NCT02900755 Phase 4 Perampanel
4 A Randomised Controlled Trial of the Ketogenic Diet in the Treatment of Epilepsy in Children Under the Age of Two Years Unknown status NCT02205931 Phase 4 Antiepileptic drug therapy
5 Prospective Open Label Evaluation of Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy: A Pilot Study Unknown status NCT02726919 Phase 4 Clobazam
6 Pregabalin In Partial Seizures (Preps) : An Open-Label, International, Multicenter Add-On Therapy Trial Completed NCT00141427 Phase 4 Pregabalin
7 Phenytoin and Driving Safety Completed NCT00581893 Phase 4 Phenytoin
8 An Open, Randomized, Multicenter Comparative Clinical Trial of Lamotrigine or Carbamazepine for Cognitive Function as Initial Monotherapy in Adult Untreated Epilepsies Completed NCT00896987 Phase 4 lamotrigine (Lamictal);Carbamazepine (Tegretol)
9 A Clinical Pharmacokinetics Comparing Brand and Generic Topiramate in Epilepsy Patients : A Open-label,Randomised, Three-period Crossover Study Completed NCT02113787 Phase 4
10 EFFECT OF THREE DIFFERENT DOSES OF ORAL CHOLECALCIFEROL (1000 IU, 3000 IU AND 6000 IU DAILY) ON SERUM 25-HYDROXYVITAMIN D CHANGES AMONG EPILEPSY PATIENTS WITH HYPOVITAMINOSIS D: A RANDOMIZED PROSPECTIVE STUDY Completed NCT02890823 Phase 4 Cholecalciferol
11 Double-Blind, Placebo-Controlled Trial of Vitamin E as Add-on Therapy for Children With Epilepsy Completed NCT00004637 Phase 4 Vitamin E
12 Liceo Study: A Prospective, Observational Study On The Effectiveness Of New Antiepileptic Drugs As First Bitherapy In The Daily Clinical Practice Completed NCT00855738 Phase 4 Gabapentin, Lamotrigine, Levetiracetam, Pregabalin, Oxcarbacepine, Tiagabine, Topiramate, Zonisamide
13 Lyrica (Pregabalin) Administered As An Add-On Therapy For Partial Seizures (LEADER) An Open-Label, Multicenter Add-On Therapy Trial Completed NCT00288639 Phase 4 Pregabalin
14 An Open-Label, Multicenter, Multinational Study of Lacosamide as First Add-On Anti-epileptic Drug (AED) Treatment in Subjects With Partial-Onset Seizures Completed NCT00955357 Phase 4 Lacosamide
15 Efficacy and Safety of Eslicarbazepine Acetate as First Add-on to Levetiracetam or Lamotrigine Monotherapy or as Later Adjunctive Treatment for Subjects With Uncontrolled Partial-onset Seizures: A Multicenter, Open-label, Non-randomized Trial Completed NCT03116828 Phase 4 Eslicarbazepine acetate;Eslicarbazepine Acetate
16 Effect of Melatonin on Seizure Outcome, Neuronal Damage and Quality of Life in Patients With Generalized Seizure: A Randomized, add-on Placebo-controlled Clinical Trial Completed NCT03590197 Phase 4 Melatonin 3 mg
17 Equivalence Among Antiepileptic Drug Generic and Brand Products in People With Epilepsy: Single-Dose 6-Period Replicate Design (EQUIGEN Single-Dose Study) Completed NCT01733394 Phase 4 Lamotrigine Generic "A" Lamotrigine Generic "B" Lamotrigine "Brand";lamotrigine
18 Women With Epilepsy: a Pilot Study of Pharmacokinetic and Pharmacodynamic Anti-epileptic Drug Effects in Levonorgestrel Intrauterine System Users Completed NCT02362373 Phase 4 levonorgestrel IUS
19 Searching for "Sleep Friendly" Therapies for a Sleepy Population: A Double-Blind, Placebo-Controlled, Randomized Trial to Assess the Effects of Lacosamide on Sleep and Wake in Adults With Focal Epilepsy Completed NCT01190098 Phase 4 Lacosamide;Placebo
20 Effect of Small Changes in Plasma Valproic Acid Concentration on the Photoparoxysmal Response Completed NCT00609245 Phase 4 Valproic Acid;Placebo
21 Equivalence Among Antiepileptic Drug Generic and Brand Products in People With Epilepsy: Chronic-Dose 4-Period Replicate Design (EQUIGEN Chronic-Dose Study) Completed NCT01713777 Phase 4 Lamotrigine Generic "A";Lamotrigine generic "B"
22 Valproate Dose Reduction and Its Clinical Evaluation by Introducing Lamotrigine in Japanese Women With Epilepsy - Single Arm, Multicenter, and Open-label Study - Completed NCT02100644 Phase 4 Lamotrigine tablets 25/100 mg
23 Ivermectin Treatment in Patients With Onchocerciasis-associated Epilepsy: A Randomized Clinical Trial Completed NCT03052998 Phase 4 Ivermectin
24 Transcranial Direct Current Stimulation for Treatment of Childhood Pharmacoresistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
25 A Shortened Antiepileptic Drug (AED) Course in Surgical Brain Tumor Patients: A Randomized Trial Recruiting NCT02334722 Phase 4 Levetiracetam extended release
26 Pharmacokinetics of Antiepileptic Drugs in Critically Ill Patients Undergoing Continuous Renal Replacement Therapy Recruiting NCT03632915 Phase 4 Levetiracetam;Lacosamide;Phenytoin;Phenobarbital;Ketamine;Valproic Acid
27 Seizure Treatment IN Glioma (STING): Comparing a Treatment Strategy With Levetiracetam Versus Treatment With Valproic Acid in Glioma Patients With a First Seizure Recruiting NCT03048084 Phase 4 Levetiracetam;Valproic Acid
28 Oro-dispersible Olanzapine (Wafer) Versus Conventional Oral Haloperidol or Diazepam Tablets for the Management of Acute Agitation in the Accident and Emergency Department - a Multicentre Randomised Clinical Trial Recruiting NCT03246620 Phase 4 Olanzapine oro-dispersible 5Mg Tab;Haloperidol 2Mg encapsulated Tab;Diazepam 2Mg encapsulated Tab
29 Efficacy and Tolerability of Low vs. Standard Daily Doses of Antiepileptic Drugs in Newly Diagnosed, Previously Untreated Epilepsy (STANDLOW). A Multicenter, Randomized, Single-blind, Parallel-group Trial Not yet recruiting NCT03689114 Phase 4 Low dose carbamazepine;Standard dose carbamazepine;Low dose levetiracetam;Standard dose levetiracetam;Low dose valproate;Standard dose valproate;Low dose zonisamide;Standard dose zonisamide;Low dose oxcarbazepine;Standard dose oxcarbazepine;Low dose topiramate;Standard dose topiramate;Low dose lamotrigine;Standard dose lamotrigine;Low dose gabapentin;Standard dose gabapentin
30 Post Marketing Study; Randomized, Parallel-Group Comparison of Treatment With Pharmacotherapy or Adjunctive Vagus Nerve Stimulation Therapy for Pharmacoresistant Partial Seizures: A Large Simple Effectiveness Trial Terminated NCT00215215 Phase 4
31 An Open Randomized Trial to Assess the Efficacy and Safety of Vagus Nerve Stimulation (VNS) Versus New Anti-Epileptic Drug (AED) Treatment in Children With Refractory Seizures Terminated NCT01118455 Phase 4 Anti-Epileptic Drug (AED)
32 A Randomised, Double Blind, Placebo-controlled Study to Evaluate the Safety and Tolerability and to Explore the Efficacy of Zonisamide as add-on Therapy in Elderly Patients With Refractory Partial Seizures Terminated NCT01546688 Phase 4 Zonisamide at targeted daily doses of 100-500 mg/day;Placebo administered to match targeted daily doses of 100-500 mg/day
33 An Open Label, Randomized Study Prospectively Examining the Effect on Anxiety in Partial Epilepsy Patients Treated With Pregabalin Terminated NCT01128712 Phase 4 Pregabalin;Pregabalin
34 Evaluating Transporter Protein Inhibitors in Patients With Epilepsy Terminated NCT00610532 Phase 4 phenytoin;phenytoin and probenecid
35 Sabril for Treatment of Adult Refractory Partial Seizures Symptomatic of Tuberous Sclerosis: An Open Label, Phase IV Prospective Safety and Tolerability Study Terminated NCT01266291 Phase 4 vigabatrin
36 Lexapro for Major Depression in Patients With Epilepsy Terminated NCT01244724 Phase 4 Lexapro
37 Efficacy Study of Folic Acid Supplementation on Homocysteine Levels in Adolescent Epileptics Taking Antiepileptic Drugs: A Single Blind Randomized Controlled Clinical Trial Unknown status NCT02318446 Phase 3 Folic Acid;Saccharine
38 A Randomised Controlled Trial in the Palliative Setting Regarding Off-Label Medication: Investigating the Efficiency of Amitriptyline Versus Pregabalin From a Societal Perspective Unknown status NCT00740571 Phase 3 amitriptyline;pregabalin
39 Multicenter, Comparative, Randomized, Open Trial to Evaluate Efficacy and Safety of Levetiracetam Versus Carbamazepine in Post Stroke Late Onset Crisis Unknown status NCT00542802 Phase 3 Levetiracetam;Carbamazepine
40 Double Blind Placebo Controlled Trial of Anticonvulsant Effects of n-3 PUFAs in Human Subjects With Epilepsy Unknown status NCT01769092 Phase 2, Phase 3
41 A Double-Blind, Randomized, Placebo-Controlled Intervention Study of the Efficacy and Safety of "NFM proBio65" in the Atopic and Allergic Volunteers Completed NCT00893230 Phase 3
42 A Multicenter, Randomized, Controlled, Open-label Study to Evaluate the Cognitive Development Effects and Safety, and Pharmacokinetics of Adjunctive Rufinamide Treatment in Pediatric Subjects 1 to Less Than 4 Years of Age With Inadequately Controlled Lennox-Gastaut Syndrome Completed NCT01405053 Phase 3 Rufinamide;Any other approved Antiepileptic Drug
43 Cortical Excitability Changes Induced by Retigabine: a Transcranial Magnetic Stimulation Study Completed NCT01823159 Phase 3 retigabine;placebo
44 An Open-label Extension Trial to Determine Safety and Efficacy of Long-term Oral SPM 927 in Patients With Partial Seizures Completed NCT00522275 Phase 3 lacosamide
45 Follow-up Study of L059 (Levetiracetam) in Epileptic Patients With Partial Onset Seizures by Open Label Method Completed NCT00160615 Phase 3 Levetiracetam
46 Topiramate (RWJ 17021-000) Clinical Trial In Children With Partial Onset Seizures Completed NCT00236743 Phase 3 topiramate
47 A Study for Evaluating the Efficacy and Safety of Zonisamide and Lamotrigine (Lamictal) for Subjects With Refractory Simple Partial, Complex Partial or Partial With Secondary Generalized Seizures Completed NCT00292461 Phase 3 Zonisamide;Lamotrigine
48 Double-Blind, Randomized, Historical Control Study of the Safety and Efficacy of Eslicarbazepine Acetate Monotherapy in Subjects With Partial Epilepsy Not Well Controlled by Current Antiepileptic Drugs Completed NCT00866775 Phase 3 Eslicarbazepine acetate;Eslicarbazepine acetate
49 An International, Double-blind, Parallel-group, Placebo-controlled, Randomized Study: Evaluation of the Efficacy and Safety of Phenobarbital as Adjunctive Therapy in Participants (> or = 17 to 70 Years Old) With Partial Onset Seizures Completed NCT01284556 Phase 3 Phenobarbital;Placebo tablet
50 A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Parallel-Group Phase 3 Study to Determine the Efficacy and Safety of Retigabine (1200 mg/Day) Used as Adjunctive Therapy in Refractory Epilepsy Patients With Partial-Onset Seizures Completed NCT00232596 Phase 3 Retigabine;Placebo

Search NIH Clinical Center for Arthrochalasia Ehlers-Danlos Syndrome

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Genetic Tests for Arthrochalasia Ehlers-Danlos Syndrome

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Sources

Anatomical Context for Arthrochalasia Ehlers-Danlos Syndrome

About this section

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

40
Skin, Brain, Bone
Sources

Publications for Arthrochalasia Ehlers-Danlos Syndrome

About this section

Articles related to Arthrochalasia Ehlers-Danlos Syndrome:

# Title Authors PMID Year
1
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. 6
18409203 2008
2
Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177. 6
8347685 1993
3
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 6
1867198 1991
4
Point substitutions in albumin genetic variants from Asia. 6
2404284 1990
5
A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. 6
2767050 1989
6
Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII. 6
3082886 1986
7
Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. 6
6462220 1984
8
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. 61
32091183 2020
Sources

Variations for Arthrochalasia Ehlers-Danlos Syndrome

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ClinVar genetic disease variations for Arthrochalasia Ehlers-Danlos Syndrome:

6 (show top 50) (show all 153) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL1A1 NM_000088.3(COL1A1):c.1821+1G>ASNV Pathogenic 425580 rs66555264 17:48270354-48270354 17:50192993-50192993
2 COL1A1 NM_000088.3(COL1A1):c.1299+1G>ASNV Pathogenic 425599 rs66490707 17:48272592-48272592 17:50195231-50195231
3 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter)SNV Pathogenic 425597 rs72648326 17:48272649-48272649 17:50195288-50195288
4 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser)SNV Pathogenic 447141 rs67879854 17:48267939-48267939 17:50190578-50190578
5 COL1A1 NM_000088.3(COL1A1):c.543G>A (p.Met181Ile)SNV Pathogenic 17311 rs72667022 17:48275794-48275794 17:50198433-50198433
6 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg)SNV Pathogenic 17312 rs72645357 17:48273524-48273524 17:50196163-50196163
7 COL1A1 NM_000088.3(COL1A1):c.472-1G>ASNV Pathogenic 17339 rs72667020 17:48275866-48275866 17:50198505-50198505
8 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys)SNV Pathogenic 17347 rs72653170 17:48266269-48266269 17:50188908-50188908
9 COL1A1 NM_000088.3(COL1A1):c.472-2A>TSNV Pathogenic 17350 rs72667019 17:48275867-48275867 17:50198506-50198506
10 ALB NM_000477.5(ALB):c.71G>A (p.Arg24Gln)SNV Pathogenic 18185 rs74821926 4:74270115-74270115 4:73404398-73404398
11 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter)SNV Pathogenic 287320 rs72651642 17:48269187-48269187 17:50191826-50191826
12 COL1A1 NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg)SNV Pathogenic/Likely pathogenic 450546 rs1555574303 17:48273533-48273533 17:50196172-50196172
13 COL1A1 NM_000088.3(COL1A1):c.3423A>C (p.Arg1141=)SNV Conflicting interpretations of pathogenicity 456770 rs148737409 17:48264845-48264845 17:50187484-50187484
14 COL1A1 NM_000088.3(COL1A1):c.1269C>T (p.Pro423=)SNV Conflicting interpretations of pathogenicity 456732 rs149301001 17:48272623-48272623 17:50195262-50195262
15 COL1A1 NM_000088.3(COL1A1):c.2167G>A (p.Ala723Thr)SNV Conflicting interpretations of pathogenicity 512651 rs150803124 17:48268812-48268812 17:50191451-50191451
16 COL1A1 NM_000088.3(COL1A1):c.299-15C>TSNV Conflicting interpretations of pathogenicity 447142 rs199523510 17:48276966-48276966 17:50199605-50199605
17 COL1A1 NM_000088.3(COL1A1):c.1461+13G>TSNV Conflicting interpretations of pathogenicity 509588 rs371161009 17:48272069-48272069 17:50194708-50194708
18 COL1A1 NM_000088.3(COL1A1):c.77G>A (p.Gly26Asp)SNV Conflicting interpretations of pathogenicity 635464 17:48278798-48278798 17:50201437-50201437
19 COL1A1 NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)SNV Conflicting interpretations of pathogenicity 702403 17:48265328-48265328 17:50187967-50187967
20 COL1A1 NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val)SNV Conflicting interpretations of pathogenicity 707289 17:48268811-48268811 17:50191450-50191450
21 COL1A1 NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=)SNV Conflicting interpretations of pathogenicity 772515 17:48265273-48265273 17:50187912-50187912
22 COL1A1 NM_000088.4(COL1A1):c.462C>T (p.Gly154=)SNV Conflicting interpretations of pathogenicity 772260 17:48276596-48276596 17:50199235-50199235
23 COL1A1 NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=)SNV Conflicting interpretations of pathogenicity 779770 17:48263190-48263190 17:50185829-50185829
24 COL1A1 NM_000088.3(COL1A1):c.251C>G (p.Ala84Gly)SNV Conflicting interpretations of pathogenicity 526852 rs775095655 17:48277161-48277161 17:50199800-50199800
25 COL1A1 NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr)SNV Conflicting interpretations of pathogenicity 547231 rs769571473 17:48264235-48264235 17:50186874-50186874
26 COL1A1 NM_000088.4(COL1A1):c.*836C>TSNV Conflicting interpretations of pathogenicity 889832 17:48262027-48262027 17:50184666-50184666
27 COL1A1 NM_000088.4(COL1A1):c.*548C>ASNV Conflicting interpretations of pathogenicity 889214 17:48262315-48262315 17:50184954-50184954
28 COL1A1 NM_000088.4(COL1A1):c.*93A>GSNV Conflicting interpretations of pathogenicity 889272 17:48262770-48262770 17:50185409-50185409
29 COL1A1 NM_000088.3(COL1A1):c.1691G>A (p.Arg564His)SNV Conflicting interpretations of pathogenicity 418140 rs1800211 17:48271380-48271380 17:50194019-50194019
30 COL1A1 NM_000088.4(COL1A1):c.3815-10C>TSNV Conflicting interpretations of pathogenicity 891578 17:48263878-48263878 17:50186517-50186517
31 COL1A1 NM_000088.4(COL1A1):c.1615-14C>TSNV Conflicting interpretations of pathogenicity 888579 17:48271558-48271558 17:50194197-50194197
32 COL1A1 NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)SNV Conflicting interpretations of pathogenicity 891837 17:48264060-48264060 17:50186699-50186699
33 COL1A1 NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)SNV Conflicting interpretations of pathogenicity 889393 17:48264196-48264196 17:50186835-50186835
34 COL1A1 NM_000088.4(COL1A1):c.1272C>T (p.Gly424=)SNV Conflicting interpretations of pathogenicity 890844 17:48272620-48272620 17:50195259-50195259
35 COL1A1 NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe)SNV Conflicting interpretations of pathogenicity 888627 17:48273295-48273295 17:50195934-50195934
36 COL1A1 NM_000088.4(COL1A1):c.1017C>T (p.Pro339=)SNV Conflicting interpretations of pathogenicity 890331 17:48273323-48273323 17:50195962-50195962
37 COL1A1 NM_000088.4(COL1A1):c.-57G>ASNV Conflicting interpretations of pathogenicity 890451 17:48278931-48278931 17:50201570-50201570
38 COL1A1 NM_000088.3(COL1A1):c.1768-8C>TSNV Conflicting interpretations of pathogenicity 35904 rs193922142 17:48270416-48270416 17:50193055-50193055
39 COL1A1 NM_000088.3(COL1A1):c.2595C>T (p.Arg865=)SNV Conflicting interpretations of pathogenicity 35915 rs117672175 17:48267238-48267238 17:50189877-50189877
40 COL1A1 NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser)SNV Conflicting interpretations of pathogenicity 35918 rs193922153 17:48266534-48266534 17:50189173-50189173
41 COL1A1 NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)SNV Conflicting interpretations of pathogenicity 891522 17:48262982-48262982 17:50185621-50185621
42 COL1A1 NM_000088.3(COL1A1):c.1984-5C>ASNV Conflicting interpretations of pathogenicity 196607 rs66592376 17:48269390-48269390 17:50192029-50192029
43 COL1A1 NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala)SNV Conflicting interpretations of pathogenicity 218424 rs72667032 17:48275339-48275339 17:50197978-50197978
44 COL1A1 NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr)SNV Conflicting interpretations of pathogenicity 225320 rs148216434 17:48264049-48264049 17:50186688-50186688
45 COL1A1 NM_000088.3(COL1A1):c.1005T>A (p.Gly335=)SNV Conflicting interpretations of pathogenicity 281322 rs375914028 17:48273335-48273335 17:50195974-50195974
46 COL1A2 NM_000089.4(COL1A2):c.594+5A>TSNV Conflicting interpretations of pathogenicity 281902 rs200744314 7:94035620-94035620 7:94406308-94406308
47 COL1A1 NM_000088.3(COL1A1):c.1249C>G (p.Pro417Ala)SNV Conflicting interpretations of pathogenicity 284534 rs72648327 17:48272643-48272643 17:50195282-50195282
48 COL1A1 NM_000088.3(COL1A1):c.*378C>GSNV Conflicting interpretations of pathogenicity 324080 rs148131473 17:48262485-48262485 17:50185124-50185124
49 COL1A1 NM_000088.3(COL1A1):c.1233C>T (p.Phe411=)SNV Conflicting interpretations of pathogenicity 324113 rs776387246 17:48272659-48272659 17:50195298-50195298
50 COL1A1 NM_000088.3(COL1A1):c.3099+7T>CSNV Conflicting interpretations of pathogenicity 324105 rs201682029 17:48266096-48266096 17:50188735-50188735
Sources

Expression for Arthrochalasia Ehlers-Danlos Syndrome

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

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

36
# Name Kegg Source Accession
1 Focal adhesion hsa04510
2 ECM-receptor interaction hsa04512
3 Relaxin signaling pathway hsa04926

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Vesicle-mediated transport 65
Show member pathways
 12.8 COL1A2 COL1A1 ALB
2
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 22
Show member pathways
 12.1 COL1A2 COL1A1
3
Proteoglycans in cancer 36
11.85 COL1A2 COL1A1
4
ECM-receptor interaction 36
Show member pathways
 11.7 COL1A2 COL1A1
5
Platelet activation 36
11.59 COL1A2 COL1A1
6
Amoebiasis 36
11.49 COL1A2 COL1A1
7
AGE-RAGE signaling pathway in diabetic complications 36
11.46 COL1A2 COL1A1
8
IL4-mediated signaling events 1
11.23 COL1A2 COL1A1
9
Cell adhesion_ECM remodeling 22
11.19 COL1A2 COL1A1
10
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.08 COL1A2 COL1A1
11
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 22
10.92 COL1A2 COL1A1
12
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
10.85 COL1A2 COL1A1
13
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 10.82 COL1A2 COL1A1 ALB
14
Inflammatory Response Pathway 1
10.67 COL1A2 COL1A1
15
VEGFR3 signaling in lymphatic endothelium 1
10.32 COL1A2 COL1A1
Sources

GO Terms for Arthrochalasia Ehlers-Danlos Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.54 COL1A2 COL1A1 ALB
2 endoplasmic reticulum GO:0005783 9.43 COL1A2 COL1A1 ALB
3 extracellular matrix GO:0031012 9.32 COL1A2 COL1A1
4 collagen trimer GO:0005581 9.16 COL1A2 COL1A1
5 endoplasmic reticulum lumen GO:0005788 9.13 COL1A2 COL1A1 ALB
6 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.48 COL1A2 COL1A1
2 regulation of immune response GO:0050776 9.46 COL1A2 COL1A1
3 leukocyte migration GO:0050900 9.43 COL1A2 COL1A1
4 blood coagulation GO:0007596 9.4 COL1A2 COL1A1
5 skeletal system development GO:0001501 9.37 COL1A2 COL1A1
6 platelet activation GO:0030168 9.32 COL1A2 COL1A1
7 blood vessel development GO:0001568 9.26 COL1A2 COL1A1
8 cellular response to amino acid stimulus GO:0071230 9.16 COL1A2 COL1A1
9 collagen fibril organization GO:0030199 8.96 COL1A2 COL1A1
10 skin morphogenesis GO:0043589 8.62 COL1A2 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.5 COL1A2 COL1A1 ALB
2 extracellular matrix structural constituent GO:0005201 9.26 COL1A2 COL1A1
3 protease binding GO:0002020 9.16 COL1A2 COL1A1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A2 COL1A1
5 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1
Sources

Sources for Arthrochalasia Ehlers-Danlos Syndrome

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