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AEDS
MCID: ART153
MIFTS: 48

Arthrochalasia Ehlers-Danlos Syndrome (AEDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes 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 53 59
Ehlers-Danlos Syndrome, Arthrochalasia Type 53 59 72
Arthrochalasis Multiplex Congenita 53 59
Aeds 53 59
Ehlers-Danlos Syndrome Arthrochalasia Type 37
Ehlers-Danlos Syndrome Type 7 59
Arthrochalasia Eds 53
Eds Vii 59

Characteristics:

Orphanet epidemiological data:

59
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: 34
Orphanet: 59  
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

KEGG 37 H02243
ICD10 via Orphanet 34 Q79.6
UMLS via Orphanet 73 C0268345
Orphanet 59 ORPHA1899
UMLS 72 C0268345
Sources

Summaries for Arthrochalasia Ehlers-Danlos Syndrome

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NIH Rare Diseases : 53 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 scleroderma, familial progressive and ehlers-danlos syndrome. 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 Nitrazepam have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are muscular hypotonia and dysphasia

KEGG : 37
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 17513)
# Related Disease Score Top Affiliating Genes
1 scleroderma, familial progressive 31.1 COL1A2 COL1A1
2 ehlers-danlos syndrome 31.0 COL1A2 COL1A1
3 osteoporosis 31.0 COL1A2 COL1A1
4 dentinogenesis imperfecta 30.8 COL1A2 COL1A1
5 osteogenesis imperfecta, type v 30.8 COL1A2 COL1A1
6 caffey disease 30.7 COL1A2 COL1A1
7 brittle bone disorder 30.7 COL1A2 COL1A1
8 osteogenesis imperfecta, type viii 30.7 COL1A2 COL1A1
9 collagen disease 30.7 COL1A2 COL1A1
10 otosclerosis 30.6 COL1A2 COL1A1
11 osteogenesis imperfecta, type iv 30.6 COL1A2 COL1A1
12 osteogenesis imperfecta, type i 30.6 COL1A2 COL1A1
13 spondyloepiphyseal dysplasia congenita 30.5 COL1A2 COL1A1
14 connective tissue disease 30.5 COL1A2 COL1A1
15 osteogenesis imperfecta, type ii 30.5 COL1A2 COL1A1
16 osteogenesis imperfecta, type vii 30.4 COL1A2 COL1A1
17 scoliosis 30.4 COL1A2 COL1A1
18 osteogenesis imperfecta, type iii 30.4 COL1A2 COL1A1
19 ehlers-danlos syndrome, classic type, 1 30.4 COL1A2 COL1A1
20 classic ehlers-danlos syndrome 30.3 COL1A2 COL1A1
21 bruck syndrome 30.1 COL1A2 COL1A1
22 bone development disease 29.1 COL1A2 COL1A1
23 high bone mass osteogenesis imperfecta 28.3 COL1A2 COL1A1
24 larsen-like syndrome 28.2 COL1A2 COL1A1
25 hypercarotenemia and vitamin a deficiency, autosomal dominant 12.4
26 hepatitis a 12.4
27 immunoglobulin a deficiency 1 12.4
28 hemophilia a 12.4
29 hypervitaminosis a 12.4
30 molybdenum cofactor deficiency, complementation group a 12.4
31 charcot-marie-tooth disease, recessive intermediate a 12.4
32 fanconi anemia, complementation group a 12.3
33 niemann-pick disease, type a 12.3
34 xeroderma pigmentosum, complementation group a 12.3
35 charcot-marie-tooth disease, dominant intermediate a 12.3
36 mandibuloacral dysplasia with type a lipodystrophy 12.3
37 insulin-resistant acanthosis nigricans, type a 12.3
38 krabbe disease, atypical, due to saposin a deficiency 12.3
39 muscular dystrophy-dystroglycanopathy , type a, 8 12.3
40 hyperphenylalaninemia, bh4-deficient, a 12.3
41 medium-chain acyl-coenzyme a dehydrogenase deficiency 12.2
42 muscular dystrophy-dystroglycanopathy , type a, 10 12.2
43 muscular dystrophy-dystroglycanopathy , type a, 3 12.2
44 muscular dystrophy-dystroglycanopathy , type a, 12 12.2
45 cockayne syndrome a 12.2
46 muscular dystrophy-dystroglycanopathy , type a, 1 12.2
47 muscular dystrophy-dystroglycanopathy , type a, 13 12.2
48 glaucoma 3, primary congenital, a 12.2
49 muscular dystrophy-dystroglycanopathy , type a, 4 12.2
50 mannosidosis, beta a, lysosomal 12.2

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:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
3 hip dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001385
4 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
5 coxa valga 59 32 hallmark (90%) Very frequent (99-80%) HP:0002673
6 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
7 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
8 aphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002381
9 hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002827
10 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
11 coxa vara 59 32 hallmark (90%) Very frequent (99-80%) HP:0002812
12 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
13 avascular necrosis of the capital femoral epiphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005743
14 scarring 59 32 hallmark (90%) Very frequent (99-80%) HP:0100699
15 muscle flaccidity 59 32 hallmark (90%) Very frequent (99-80%) HP:0010547
16 echolalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0010529
17 mutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002300
18 abnormality of subcutaneous fat tissue 59 32 hallmark (90%) Very frequent (99-80%) HP:0001001
19 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
20 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
21 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
22 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
23 retrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000278
24 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
25 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
26 femoral hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100541
27 joint dislocation 59 Very frequent (99-80%)
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 184)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rufinamide Approved Phase 4 106308-44-5 129228
2
Nitrazepam Approved Phase 4 146-22-5 4506
3
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
4
Stiripentol Approved Phase 4 49763-96-4
5
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
6
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
7
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
8
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
9
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
10
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
11
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
12
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
13
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
14
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
15
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
16
Haloperidol Approved Phase 4 52-86-8 3559
17
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
18
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
19
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
20
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
21
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
22
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
23
Probenecid Approved, Investigational Phase 4 57-66-9 4911
24
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
25
Citalopram Approved Phase 4 59729-33-8 2771
26
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
27
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
28
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
29
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
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
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
33 Tocotrienol Investigational Phase 4 6829-55-6
34 Vitamins Phase 4
35 GABA Agonists Phase 4
36 GABA-A Receptor Agonists Phase 4
37 Micronutrients Phase 4
38 Trace Elements Phase 4
39 Nutrients Phase 4
40 Contraceptive Agents Phase 4
41 Antipsychotic Agents Phase 4
42 Hypoglycemic Agents Phase 4
43 Hydroxycholecalciferols Phase 4
44 Calciferol Phase 4
45 Bone Density Conservation Agents Phase 4
46 Tocopherols Phase 4
47 Tocotrienols Phase 4
48 Contraceptives, Oral Phase 4
49 Antiparasitic Agents Phase 4
50 Anesthetics Phase 4

Interventional clinical trials:

(show top 50) (show all 197)
# 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 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
13 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
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 Characterization of Epilepsy Patients At-risk for Adverse Outcomes Related to Switching Antiepileptic Drug Products: BEEP 2b Study Completed NCT02707965 Phase 4 Oxcarbmazepine (brand name vs generic drugs);Divalproex Sodium (brand name vs generic drugs);Carbamazepine (brand name vs generic drugs);Lamotrigine (brand name vs generic drugs);levetiracetam (brand name vs generic drugs);Topiramate (brand name vs generic drugs);Zonisamide (brand name vs generic drugs);Phenytoin sodium (brand name vs generic drugs)
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 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
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 Effect of Small Changes in Plasma Valproic Acid Concentration on the Photoparoxysmal Response Completed NCT00609245 Phase 4 Valproic Acid;Placebo
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 Intramuscular Olanzapine Versus Haloperidol or Midazolam for the Management of Acute Agitation in the Emergency Department - a Multicentre Randomised Clinical Trial Recruiting NCT02380118 Phase 4 Olanzapine;Haloperidol;Midazolam
29 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
30 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 Recruiting NCT03590197 Phase 4 Melatonin 3 mg
31 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
32 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
33 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)
34 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
35 An Open Label, Randomized Study Prospectively Examining the Effect on Anxiety in Partial Epilepsy Patients Treated With Pregabalin Terminated NCT01128712 Phase 4 Pregabalin;Pregabalin
36 Evaluating Transporter Protein Inhibitors in Patients With Epilepsy Terminated NCT00610532 Phase 4 phenytoin;phenytoin and probenecid
37 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
38 Lexapro for Major Depression in Patients With Epilepsy Terminated NCT01244724 Phase 4 Lexapro
39 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
40 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
41 Double Blind Placebo Controlled Trial of Anticonvulsant Effects of n-3 PUFAs in Human Subjects With Epilepsy Unknown status NCT01769092 Phase 2, Phase 3
42 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
43 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
44 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
45 Cortical Excitability Changes Induced by Retigabine: a Transcranial Magnetic Stimulation Study Completed NCT01823159 Phase 3 retigabine;placebo
46 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
47 Topiramate (RWJ 17021-000) Clinical Trial In Children With Partial Onset Seizures Completed NCT00236743 Phase 3 topiramate
48 Follow-up Study of L059 (Levetiracetam) in Epileptic Patients With Partial Onset Seizures by Open Label Method Completed NCT00160615 Phase 3 Levetiracetam
49 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
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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Anatomical Context for Arthrochalasia Ehlers-Danlos Syndrome

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

41
Skin, Brain, Bone
Sources

Publications for Arthrochalasia Ehlers-Danlos Syndrome

About this section

Articles related to Arthrochalasia Ehlers-Danlos Syndrome:

(show all 11)
# Title Authors PMID Year
1
The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. 71
18409203 2008
2
Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177. 71
8347685 1993
3
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. 71
1867198 1991
4
Point substitutions in albumin genetic variants from Asia. 71
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. 71
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. 71
3082886 1986
7
Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. 71
6462220 1984
8
The role of arthroscopic thermal capsulorrhaphy in the hip. 38
11675889 2001
9
Generalized hypermobility of joints: arthrochalasis multiplex congenita. 38
4268242 1973
10
Arthrochalasis multiplex congenita. Report of a case. 38
5519306 1970
11
Arthrochalasis multiplex congenita; congenital flaccidity of the joints. 38
13539092 1958
Sources

Variations for Arthrochalasia Ehlers-Danlos Syndrome

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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:

37
# 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 19)
# Super pathways Score Top Affiliating Genes
1
Focal Adhesion 37 1
Show member pathways
 12.35 COL1A2 COL1A1
2
Collagen chain trimerization 66
Show member pathways
 12.28 COL1A2 COL1A1
3
Degradation of the extracellular matrix 66
Show member pathways
 12.2 COL1A2 COL1A1
4
Development Endothelin-1/EDNRA signaling 22
Show member pathways
 12.13 COL1A2 COL1A1
5
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 22
Show member pathways
 12.08 COL1A2 COL1A1
6
ECM-receptor interaction 37
Show member pathways
 11.7 COL1A2 COL1A1
7
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 11.68 COL1A2 COL1A1
8
Platelet activation 37
11.59 COL1A2 COL1A1
9
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.49 COL1A2 COL1A1
10
AGE-RAGE signaling pathway in diabetic complications 37
11.46 COL1A2 COL1A1
11
Amoebiasis 37
11.44 COL1A2 COL1A1
12
IL4-mediated signaling events 1
11.2 COL1A2 COL1A1
13
Cell adhesion_ECM remodeling 22
11.15 COL1A2 COL1A1
14
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 61
11.03 COL1A2 COL1A1
15
Cell adhesion_Endothelial cell contacts by non-junctional mechanisms 22
10.86 COL1A2 COL1A1
16
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
10.75 COL1A2 COL1A1
17
G-protein signaling_Rap2B regulation pathway 22
10.47 COL1A2 COL1A1
18
Inflammatory Response Pathway 1
10.47 COL1A2 COL1A1
19
VEGFR3 signaling in lymphatic endothelium 1
9.98 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 matrix GO:0031012 9.32 COL1A2 COL1A1
2 endoplasmic reticulum lumen GO:0005788 9.26 COL1A2 COL1A1
3 collagen-containing extracellular matrix GO:0062023 9.16 COL1A2 COL1A1
4 collagen trimer GO:0005581 8.96 COL1A2 COL1A1
5 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of immune response GO:0050776 9.49 COL1A2 COL1A1
2 extracellular matrix organization GO:0030198 9.48 COL1A2 COL1A1
3 leukocyte migration GO:0050900 9.46 COL1A2 COL1A1
4 blood coagulation GO:0007596 9.43 COL1A2 COL1A1
5 skeletal system development GO:0001501 9.4 COL1A2 COL1A1
6 platelet activation GO:0030168 9.37 COL1A2 COL1A1
7 cellular response to amino acid stimulus GO:0071230 9.32 COL1A2 COL1A1
8 blood vessel development GO:0001568 9.26 COL1A2 COL1A1
9 collagen fibril organization GO:0030199 9.16 COL1A2 COL1A1
10 protein heterotrimerization GO:0070208 8.96 COL1A2 COL1A1
11 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 extracellular matrix structural constituent GO:0005201 9.26 COL1A2 COL1A1
2 protease binding GO:0002020 9.16 COL1A2 COL1A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL1A2 COL1A1
4 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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