AEDS
MCID: ART153
MIFTS: 48

Arthrochalasia Ehlers-Danlos Syndrome (AEDS)

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

Aliases & Classifications for Arthrochalasia Ehlers-Danlos Syndrome

MalaCards integrated aliases for Arthrochalasia Ehlers-Danlos Syndrome:

Name: Arthrochalasia Ehlers-Danlos Syndrome 20 58
Ehlers-Danlos Syndrome, Arthrochalasia Type 20 58 70
Ehlers-Danlos Syndrome Arthrochalasia Type 36 6
Arthrochalasis Multiplex Congenita 20 58
Arthrochalasia Eds 20 58
Aeds 20 58
Ehlers-Danlos Syndrome Type 7 58
Eds Vii 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

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


Summaries for Arthrochalasia Ehlers-Danlos Syndrome

GARD : 20 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 ehlers-danlos syndrome, arthrochalasia type, 2. 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 bone, and related phenotypes are dysphasia 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.

Related Diseases for Arthrochalasia Ehlers-Danlos Syndrome

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 100)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, arthrochalasia type, 1 32.2 COL1A1 ALB
2 ehlers-danlos syndrome, arthrochalasia type, 2 32.2 COL1A2 COL1A1 ALB
3 ehlers-danlos syndrome 30.1 COL1A2 COL1A1
4 bone resorption disease 29.0 COL1A2 COL1A1 ALB
5 scn2a related disorders 11.1
6 fetal anticonvulsant syndrome 11.0
7 centralopathic epilepsy 11.0
8 malignant migrating partial seizures of infancy 10.9
9 cardiac arrest 10.5
10 epilepsy 10.5
11 dermatitis 10.3
12 seizure disorder 10.3
13 hypermobile ehlers-danlos syndrome 10.2
14 focal epilepsy 10.2
15 dermatitis, atopic 10.2
16 ventricular fibrillation, paroxysmal familial, 1 10.2
17 status epilepticus 10.1
18 major affective disorder 8 10.0
19 major affective disorder 9 10.0
20 food allergy 10.0
21 bipolar disorder 10.0
22 rhinitis 10.0
23 allergic rhinitis 10.0
24 meningioma, familial 10.0
25 intracranial meningioma 10.0
26 supratentorial meningioma 10.0
27 secretory meningioma 10.0
28 lymphoplasmacyte-rich meningioma 10.0
29 portal hypertension 9.9 COL1A1 ALB
30 ehlers-danlos/osteogenesis imperfecta syndrome 9.8 COL1A2 COL1A1
31 col1a1/2 osteogenesis imperfecta 9.8 COL1A2 COL1A1
32 high bone mass osteogenesis imperfecta 9.8 COL1A2 COL1A1
33 cardiac conduction defect 9.8
34 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 9.8
35 ige responsiveness, atopic 9.8
36 migraine with or without aura 1 9.8
37 autism 9.8
38 epilepsy, focal, with speech disorder and with or without mental retardation 9.8
39 proteasome-associated autoinflammatory syndrome 1 9.8
40 alacrima, achalasia, and mental retardation syndrome 9.8
41 restless legs syndrome 9.8
42 respiratory allergy 9.8
43 cysticercosis 9.8
44 hydrocephalus 9.8
45 respiratory failure 9.8
46 childhood absence epilepsy 9.8
47 landau-kleffner syndrome 9.8
48 reflex epilepsy 9.8
49 mood disorder 9.8
50 benign epilepsy with centrotemporal spikes 9.8

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



Diseases related to Arthrochalasia Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Arthrochalasia Ehlers-Danlos Syndrome

Human phenotypes related to Arthrochalasia Ehlers-Danlos Syndrome:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
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 hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002827
5 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
6 coxa valga 58 31 hallmark (90%) Very frequent (99-80%) HP:0002673
7 coxa vara 58 31 hallmark (90%) Very frequent (99-80%) HP:0002812
8 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
9 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
10 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
11 avascular necrosis of the capital femoral epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005743
12 muscle flaccidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0010547
13 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
14 echolalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0010529
15 mutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002300
16 scarring 58 31 hallmark (90%) Very frequent (99-80%) HP:0100699
17 abnormality of subcutaneous fat tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0001001
18 hypotonia 31 hallmark (90%) HP:0001252
19 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
20 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
21 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
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 muscular hypotonia 58 Very frequent (99-80%)
28 joint dislocation 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Arthrochalasia Ehlers-Danlos Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 ALB COL1A1 COL1A2

Drugs & Therapeutics for Arthrochalasia Ehlers-Danlos Syndrome

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

(show top 50) (show all 64)
# 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
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
8
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
9
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
10
Nitrazepam Approved Phase 4 146-22-5 4506
11
Lacosamide Approved Phase 4 860352-01-8, 175481-36-4 219078
12
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
13 Methylprednisolone Acetate Phase 4
14 Sodium Channel Blockers Phase 4
15 Diuretics, Potassium Sparing Phase 4
16 Anticonvulsants Phase 4
17
Brivaracetam Approved, Investigational Phase 2, Phase 3 357336-20-0 9837243
18
Lorazepam Approved Phase 3 846-49-1 3958
19
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
20
Levetiracetam Approved Phase 3 102767-28-2 441341
21
Oxcarbazepine Approved Phase 3 28721-07-5 34312
22 Analgesics Phase 3
23 Neurotransmitter Agents Phase 3
24 Gastrointestinal Agents Phase 3
25 Psychotropic Drugs Phase 3
26 Antiemetics Phase 3
27 Hypnotics and Sedatives Phase 3
28 GABA Agonists Phase 3
29 GABA Modulators Phase 3
30 Anti-Anxiety Agents Phase 3
31 Hormones Phase 3
32 calcium channel blockers Phase 3
33 Calcium, Dietary Phase 3
34 Nootropic Agents Phase 3
35 Antipsychotic Agents Phase 3
36
Calcium Nutraceutical Phase 3 7440-70-2 271
37
Phenobarbital Approved, Investigational Phase 2 50-06-6 4763
38 Analgesics, Non-Narcotic Phase 2
39
Pregabalin Approved, Investigational 148553-50-8 5486971
40
Ethosuximide Approved 77-67-8 3291
41
Vigabatrin Approved 60643-86-9, 68506-86-5 5665
42
Phenytoin Approved, Vet_approved 57-41-0 1775
43
Gabapentin Approved, Investigational 60142-96-3 3446
44
Felbamate Approved 25451-15-4 3331
45
Zonisamide Approved, Investigational 68291-97-4 5734
46
Tiagabine Approved, Investigational 115103-54-3 60648
47
Topiramate Approved 97240-79-4 5284627
48
Primidone Approved, Vet_approved 125-33-7 4909
49
Lactitol Approved, Investigational 585-86-4 157355
50
Carbamazepine Approved, Investigational 298-46-4 2554

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 Comparing Ketogenic Diet With the Most Appropriate Antiepileptic Drug- a Randomized Study of Children With Mental Retardation and Drug Resistant Epilepsy Unknown status NCT00552526 Phase 4 Antiepileptic drug (AED)
2 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
3 A Shortened Antiepileptic Drug (AED) Course in Surgical Brain Tumor Patients: A Randomized Trial Active, not recruiting NCT02334722 Phase 4 Levetiracetam extended release
4 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)
5 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
6 A DOUBLE-BLIND, PLACEBO-CONTROLLED, PARALLEL-GROUP, MULTICENTER STUDY OF THE EFFICACY AND SAFETY OF PREGABALIN AS ADJUNCTIVE THERAPY IN CHILDREN 4 -16 YEARS OF AGE WITH PARTIAL ONSET SEIZURES Completed NCT01389596 Phase 3 Pregabalin add-on therapy;Pregabalin add-on therapy;Pregabalin add-on therapy
7 Home Automatic External Defibrillator Trial -- HAT Completed NCT00047411 Phase 3
8 Multicenter, Open-Label, Long-Term Study to Investigate the Safety of Conversion to Lacosamide at Doses up to 600 mg/Day as Monotherapy in Japanese Adults With Partial-Onset Seizures With or Without Secondary Generalization Completed NCT02124564 Phase 3 Lacosamide
9 Automated External Defibrillator (AED) Use in Out-of-Hospital Cardiac Arrest: A New Algorithm Named "One Shock Per Minute" Completed NCT00139542 Phase 3
10 A Multicenter, Open-label, Single-arm Study to Evaluate the Pharmacokinetics, Efficacy, and Safety of Brivaracetam in Neonates With Repeated Electroencephalographic Seizures Recruiting NCT03325439 Phase 2, Phase 3 Brivaracetam (BRV) intravenous (iv);Brivaracetam (BRV) oral
11 A Phase III, Randomized, Open Label, Single Center, Study on the Effects of Treatment of Epilepsia Partialis Continua With Clobazam Compared to Treatment With or in Addition to Lorazepam and/or Clonazepam Terminated NCT02134366 Phase 3 Clobazam;Clonazepam;Lorazepam
12 Cognitive AED Outcomes in Pediatric Localization Related Epilepsy (COPE) Terminated NCT01891890 Phase 3 Oxcarbazepine;Levetiracetam;Lamotrigine
13 Keishibukuryogan (Japanese Herbal Supplement) for the Adjunctive Treatment of Catamenial Epilepsy in Adult: Safety Study Unknown status NCT01299870 Phase 2 AED treatment plus placebo;Keishibukuryogan
14 Home Automatic External Defibrillator Training for High-Risk Patients Completed NCT00219674 Phase 2
15 A Long-term Extension Study of E2007 in Patients With Refractory Partial Seizures Uncontrolled With Other Anti-Epileptic Drugs (AEDs) Completed NCT00903786 Phase 2 perampanel
16 Assessment of Marketed AEDs in the Human Photosensitivity Proof of Concept Trial Completed NCT00894010 Phase 2 carbamazepine 400mg;levetiracetam 1000mg
17 A Phase II, Open-label, Ascending High-dose, add-on Study of E2007 in Patients With Refractory Partial Seizures Uncontrolled With Other Anti-epileptic Drugs (AEDs) Completed NCT00849212 Phase 2 E2007
18 A Safety and Feasibility Study of Enteral Levetiracetam vs. Phenobarbital for Seizure Control in Pediatric Cerebral Malaria Completed NCT01982812 Phase 2 Oral Levetiracetam;Standard AED
19 Comparison of Four Different AED Training Methods in Three Different Age Groups Unknown status NCT00932906
20 Do we Need an Instructor, or a Manikin to Learn BLS/AED, or is Web Based Training as Good as Instructor Based Training? Unknown status NCT00933660
21 A Controlled Trial for Prevention of Loss of the Effect of Epilepsy Drugs Unknown status NCT03747705
22 Dual Dispatch of EMS, Fire Fighters and/or Police in Out-of-hospital Cardiac Arrest Implemented in Nine Counties in Sweden - Can More Lives be Saved by Using This Method? Unknown status NCT02184468
23 Fully Integrated Drone-system for Delivery of an Automated External Defibrillator (AED) in Out-of-hospital Cardiac Arrest (OHCA) Before the Arrival of Emergency Medical Services (EMS) Completed NCT04415398
24 A Non-interventional, Observational Study Evaluating Changes in Drug Load and Seizure Frequency Using Vimpat (Lacosamide) in Daily Clinical Practice in Combination Therapy With Sodium Channel Blocking Anti-epileptic Drugs (AEDs) or Non Sodium Channel Blocking AEDs Completed NCT01673282 Lacosamide
25 Quality of Cardiopulmonary Resuscitation Guided by AED vs Telephone-assistance Completed NCT03771911
26 An Educational Intervention to Increase Knowledge of Drug-drug Interactions Between Antiepileptics and Hormonal Contraception Among Reproductive-aged Women With Epilepsy. Completed NCT02485756
27 Does Longer Pre-shock Cardiopulmonary Resuscitation Improve the Outcome of Patients With Out-of-hospital Cardiac Arrest? A Randomized Control Trial. Completed NCT00650962
28 A Phase I, Two-stage, and Open Label Study to Evaluate the Safety and Tolerability of Using NaviFUS System in Patients With Drug Resistant Epilepsy Completed NCT03860298
29 Safety of Antiepileptic Withdrawal in Long Term Video-EEG Monitoring Completed NCT02679846
30 An Open-label, Multi-centre, Multi-national Post-marketing Non-interventional Observational Study of the Use of Zonisamide (ZNS) in the Adjunctive Treatment of Adult Patients With Partial Onset Seizures Treated With One Antiepileptic Drug (AED) as Baseline Medication Completed NCT01830868 Zonisamide tablets
31 Quality Feedback of 19 Cases by AED Operation in Out-of-hospital Environment: a Prospective Randomized Log Analysis Completed NCT03969797
32 Bone Mineral Density in Pediatric Epilepsy: AED-Specific and Duration of Treatment-Specific Effects Completed NCT00204815
33 The Scandinavian AED and Mobile Bystander Activation Trial - a Randomized Controlled Trial Completed NCT02992873
34 Accuracy of Instructional Diagrams for Automated External Defibrillator (AED) Pad Positioning Completed NCT03476720
35 A Retrospective 10-years Nationwide Observational Study of Alpine Accidents - Flight Accidents, CPR and AED in Alpine Region, Frostbite Injuries and Lightning Strike Completed NCT03405467
36 Improving Bystander CPR Quality Through Dispatcher-assisted Basic Life Support Education Program Completed NCT02527473
37 Effectiveness of a Network of Trained Volunteers Automatically Activated, on the Reduction of the Start Time of Cardiopulmonary Resuscitation Maneuvers. Study Protocol. Completed NCT03828305
38 Clinical and Economic Burden of Uncontrolled Epilepsy: Analyses From a Medicaid Database and a Private Health Plan Database Completed NCT01390909 Anti-epileptic drug (AED)
39 Population Based Intervention Trial of Dispatcher-Activated Neighborhood Access Defibrillation and Cardiopulmonary Resuscitation Completed NCT02010151
40 Acceptability Study of a New Paediatric Form of Vigabatrin in Infants and Children With Infantile Spasms or Pharmacoresistant Partial Epilepsy. Observational, Descriptive, Open-label, Multi-centric, Non-randomized Study Completed NCT02220114 Vigabatrin: Vigabatrin new ST formulation then Sabril®
41 Validation of Breathing Event Detection of the REMstar Auto With Aflex Compared to Clinical Polysomnography Completed NCT00836758
42 An International, Randomized, Controlled Prehospital Trial of a Waveform-Based Automated External Defibrillation Algorithm for the Management of Ventricular Fibrillation Completed NCT00535106
43 HLA Screening in Reducing the Risk of Antiepileptic Drug-induced Cutaneous Adverse Reactions: a Multicenter Clinical Study Recruiting NCT03184597
44 A Cluster Randomized Clinical Trial of Strategic AED Deployment in High-risk Residential Areas Combined With Activation of Local Residents Recruiting NCT04446585
45 Impact of the Organization of the First Responders in the Remote Areas on Cardiac Arrest Victim Survival: an Utstein Analysis Active, not recruiting NCT04485390
46 TELSTAR: Treatment of ELectroencephalographic STatus Epilepticus After Cardiopulmonary Resuscitation Active, not recruiting NCT02056236 Anti-epileptic drugs
47 AED-delivery Using Drones in Suspected Out-of-hospital Cardiac Arrest Not yet recruiting NCT04723368
48 Impact of SPEAC® System Data on Therapeutic Decisions Related to Convulsive Seizure Patient's Refractory to AEDs Not yet recruiting NCT03741192
49 Can Untrained Bystanders Safely and Effectively Use an Automated External Defibrillator (AED) in a Cardiac Arrest Scenario? Not yet recruiting NCT03230773
50 Regional Approach to Cardiovascular Emergencies Cardiac ARreSt Not yet recruiting NCT04660526

Search NIH Clinical Center for Arthrochalasia Ehlers-Danlos Syndrome

Genetic Tests for Arthrochalasia Ehlers-Danlos Syndrome

Anatomical Context for Arthrochalasia Ehlers-Danlos Syndrome

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

40
Bone

Publications for Arthrochalasia Ehlers-Danlos Syndrome

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

Variations for Arthrochalasia Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Arthrochalasia Ehlers-Danlos Syndrome:

6 (show top 50) (show all 157)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL1A1 NM_000088.3(COL1A1):c.543G>A (p.Met181Ile) SNV Pathogenic 17311 rs72667022 GRCh37: 17:48275794-48275794
GRCh38: 17:50198433-50198433
2 COL1A1 NM_000088.3(COL1A1):c.472-1G>A SNV Pathogenic 17339 rs72667020 GRCh37: 17:48275866-48275866
GRCh38: 17:50198505-50198505
3 COL1A1 NM_000088.3(COL1A1):c.472-2A>T SNV Pathogenic 17350 rs72667019 GRCh37: 17:48275867-48275867
GRCh38: 17:50198506-50198506
4 ALB NM_000477.5(ALB):c.71G>A (p.Arg24Gln) SNV Pathogenic 18185 rs74821926 GRCh37: 4:74270115-74270115
GRCh38: 4:73404398-73404398
5 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) SNV Pathogenic 447141 rs67879854 GRCh37: 17:48267939-48267939
GRCh38: 17:50190578-50190578
6 COL1A1 NM_000088.3(COL1A1):c.1299+1G>A SNV Pathogenic 425599 rs66490707 GRCh37: 17:48272592-48272592
GRCh38: 17:50195231-50195231
7 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) SNV Pathogenic 17347 rs72653170 GRCh37: 17:48266269-48266269
GRCh38: 17:50188908-50188908
8 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) SNV Pathogenic 287320 rs72651642 GRCh37: 17:48269187-48269187
GRCh38: 17:50191826-50191826
9 COL1A1 NM_000088.3(COL1A1):c.1821+1G>A SNV Pathogenic 425580 rs66555264 GRCh37: 17:48270354-48270354
GRCh38: 17:50192993-50192993
10 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) SNV Pathogenic 425597 rs72648326 GRCh37: 17:48272649-48272649
GRCh38: 17:50195288-50195288
11 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) SNV Pathogenic 17312 rs72645357 GRCh37: 17:48273524-48273524
GRCh38: 17:50196163-50196163
12 COL1A1 NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) SNV Likely pathogenic 450546 rs1555574303 GRCh37: 17:48273533-48273533
GRCh38: 17:50196172-50196172
13 COL1A1 NM_000088.4(COL1A1):c.*1151C>T SNV Uncertain significance 891320 GRCh37: 17:48261712-48261712
GRCh38: 17:50184351-50184351
14 COL1A1 NM_000088.4(COL1A1):c.*120T>C SNV Uncertain significance 891701 GRCh37: 17:48262743-48262743
GRCh38: 17:50185382-50185382
15 COL1A1 NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) SNV Uncertain significance 779770 rs757759451 GRCh37: 17:48263190-48263190
GRCh38: 17:50185829-50185829
16 COL1A1 NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) SNV Uncertain significance 891900 GRCh37: 17:48265471-48265471
GRCh38: 17:50188110-50188110
17 COL1A1 NM_000088.4(COL1A1):c.804+15A>C SNV Uncertain significance 892126 GRCh37: 17:48274356-48274356
GRCh38: 17:50196995-50196995
18 COL1A1 NM_000088.4(COL1A1):c.*1027G>T SNV Uncertain significance 892515 GRCh37: 17:48261836-48261836
GRCh38: 17:50184475-50184475
19 COL1A1 NM_000088.3(COL1A1):c.1233C>T (p.Phe411=) SNV Uncertain significance 324113 rs776387246 GRCh37: 17:48272659-48272659
GRCh38: 17:50195298-50195298
20 COL1A1 NM_000088.3(COL1A1):c.4196G>A (p.Arg1399His) SNV Uncertain significance 450185 rs146035171 GRCh37: 17:48263191-48263191
GRCh38: 17:50185830-50185830
21 COL1A1 NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) SNV Uncertain significance 324102 rs767525556 GRCh37: 17:48265485-48265485
GRCh38: 17:50188124-50188124
22 COL1A1 NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile) SNV Uncertain significance 324103 rs575285203 GRCh37: 17:48265929-48265929
GRCh38: 17:50188568-50188568
23 COL1A1 NM_000088.3(COL1A1):c.1375C>A (p.Pro459Thr) SNV Uncertain significance 388459 rs751299130 GRCh37: 17:48272168-48272168
GRCh38: 17:50194807-50194807
24 COL1A1 NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) SNV Uncertain significance 285239 rs372215246 GRCh37: 17:48269160-48269160
GRCh38: 17:50191799-50191799
25 COL1A1 NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) SNV Uncertain significance 853945 GRCh37: 17:48271957-48271957
GRCh38: 17:50194596-50194596
26 COL1A1 NM_000088.3(COL1A1):c.77G>A (p.Gly26Asp) SNV Uncertain significance 635464 rs151171179 GRCh37: 17:48278798-48278798
GRCh38: 17:50201437-50201437
27 COL1A1 NM_000088.3(COL1A1):c.3733A>T (p.Ile1245Phe) SNV Uncertain significance 287066 rs199514372 GRCh37: 17:48264082-48264082
GRCh38: 17:50186721-50186721
28 COL1A1 NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) SNV Uncertain significance 35897 rs139955975 GRCh37: 17:48273298-48273298
GRCh38: 17:50195937-50195937
29 COL1A1 NM_000088.3(COL1A1):c.2743C>T (p.Pro915Ser) SNV Uncertain significance 324106 rs756337302 GRCh37: 17:48266824-48266824
GRCh38: 17:50189463-50189463
30 COL1A1 NM_000088.3(COL1A1):c.3099+7T>G SNV Uncertain significance 324104 rs201682029 GRCh37: 17:48266096-48266096
GRCh38: 17:50188735-50188735
31 COL1A1 NM_000088.3(COL1A1):c.649A>T (p.Met217Leu) SNV Uncertain significance 324116 rs763409550 GRCh37: 17:48275140-48275140
GRCh38: 17:50197779-50197779
32 COL1A1 NM_000088.4(COL1A1):c.*1316C>G SNV Uncertain significance 889080 GRCh37: 17:48261547-48261547
GRCh38: 17:50184186-50184186
33 COL1A1 NM_000088.4(COL1A1):c.*1011T>C SNV Uncertain significance 889152 GRCh37: 17:48261852-48261852
GRCh38: 17:50184491-50184491
34 COL1A1 NM_000088.4(COL1A1):c.*837G>A SNV Uncertain significance 889153 GRCh37: 17:48262026-48262026
GRCh38: 17:50184665-50184665
35 COL1A1 NM_000088.4(COL1A1):c.1554C>A (p.Gly518=) SNV Uncertain significance 888580 GRCh37: 17:48271770-48271770
GRCh38: 17:50194409-50194409
36 COL1A1 NM_000088.4(COL1A1):c.1155+12C>T SNV Uncertain significance 888626 GRCh37: 17:48272916-48272916
GRCh38: 17:50195555-50195555
37 COL1A1 NM_000088.4(COL1A1):c.*502C>T SNV Uncertain significance 889215 GRCh37: 17:48262361-48262361
GRCh38: 17:50185000-50185000
38 COL1A1 NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) SNV Uncertain significance 889519 GRCh37: 17:48267715-48267715
GRCh38: 17:50190354-50190354
39 COL1A1 NM_000088.4(COL1A1):c.*356T>A SNV Uncertain significance 889896 GRCh37: 17:48262507-48262507
GRCh38: 17:50185146-50185146
40 COL1A1 NM_000088.4(COL1A1):c.*73C>A SNV Uncertain significance 889274 GRCh37: 17:48262790-48262790
GRCh38: 17:50185429-50185429
41 COL1A1 NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) SNV Uncertain significance 890021 GRCh37: 17:48263696-48263696
GRCh38: 17:50186335-50186335
42 COL1A1 NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala) SNV Uncertain significance 890183 GRCh37: 17:48268201-48268201
GRCh38: 17:50190840-50190840
43 COL1A1 NM_000088.3(COL1A1):c.1005T>A (p.Gly335=) SNV Uncertain significance 281322 rs375914028 GRCh37: 17:48273335-48273335
GRCh38: 17:50195974-50195974
44 COL1A1 NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) SNV Uncertain significance 772515 rs372044347 GRCh37: 17:48265273-48265273
GRCh38: 17:50187912-50187912
45 COL1A1 NM_000088.4(COL1A1):c.2796C>T (p.Gly932=) SNV Uncertain significance 890714 GRCh37: 17:48266771-48266771
GRCh38: 17:50189410-50189410
46 COL1A1 NM_000088.4(COL1A1):c.*342C>A SNV Uncertain significance 889897 GRCh37: 17:48262521-48262521
GRCh38: 17:50185160-50185160
47 COL1A1 NM_000088.4(COL1A1):c.*285C>A SNV Uncertain significance 891442 GRCh37: 17:48262578-48262578
GRCh38: 17:50185217-50185217
48 COL1A2 NM_000089.3(COL1A2):c.71C>G (p.Ser24Cys) SNV Uncertain significance 360942 rs763546006 GRCh37: 7:94027060-94027060
GRCh38: 7:94397748-94397748
49 COL1A2 NM_000089.3(COL1A2):c.1252-6del Deletion Uncertain significance 360954 rs886062516 GRCh37: 7:94040362-94040362
GRCh38: 7:94411050-94411050
50 COL1A2 NM_000089.4(COL1A2):c.3226C>T (p.Pro1076Ser) SNV Uncertain significance 973298 GRCh37: 7:94056566-94056566
GRCh38: 7:94427254-94427254

Expression for Arthrochalasia Ehlers-Danlos Syndrome

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

Pathways for Arthrochalasia Ehlers-Danlos Syndrome

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
Show member pathways
12.8 COL1A2 COL1A1 ALB
2
Show member pathways
12.1 COL1A2 COL1A1
3 11.85 COL1A2 COL1A1
4
Show member pathways
11.7 COL1A2 COL1A1
5 11.59 COL1A2 COL1A1
6 11.49 COL1A2 COL1A1
7 11.46 COL1A2 COL1A1
8 11.23 COL1A2 COL1A1
9 11.19 COL1A2 COL1A1
10 11.08 COL1A2 COL1A1
11 10.92 COL1A2 COL1A1
12 10.85 COL1A2 COL1A1
13
Show member pathways
10.82 COL1A2 COL1A1 ALB
14 10.67 COL1A2 COL1A1
15 10.32 COL1A2 COL1A1

GO Terms for Arthrochalasia Ehlers-Danlos Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.43 COL1A2 COL1A1 ALB
2 extracellular matrix GO:0031012 9.32 COL1A2 COL1A1
3 collagen trimer GO:0005581 9.16 COL1A2 COL1A1
4 endoplasmic reticulum lumen GO:0005788 9.13 COL1A2 COL1A1 ALB
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:

# 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 for Arthrochalasia Ehlers-Danlos Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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