EDS3
MCID: HYP706
MIFTS: 60

Hypermobile Ehlers-Danlos Syndrome (EDS3)

Categories: Bone diseases, Fetal diseases, Muscle diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Hypermobile Ehlers-Danlos Syndrome

MalaCards integrated aliases for Hypermobile Ehlers-Danlos Syndrome:

Name: Hypermobile Ehlers-Danlos Syndrome 24 19 58
Ehlers-Danlos Syndrome Type 3 19 58 5
Heds 24 19 58
Ehlers-Danlos Syndrome Hypermobility Type 24 58
Joint Hypermobility Syndrome 24 75
Joint Hypermobility 28 5
Hypermobile Eds 19 58
Ehlers-Danlos Syndrome, Hypermobility Type 19
Benign Joint Hypermobility Syndrome 24
Ehlers-Danlos Syndrome Type Iii 24
Eds Hypermobility Type 24
Eds Type Iii 24
Eds Iii 58
Eds-Ht 58
Eds3 19

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Age Of Onset:

All ages 58

GeneReviews:

24
Penetrance Penetrance is believed to be 100%, although expressivity is extremely variable, and careful examination may be required to demonstrate typical features, especially in adult men who have never experienced a major joint complication or significant pain.

Classifications:

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


Summaries for Hypermobile Ehlers-Danlos Syndrome

GARD: 19 Hypermobile Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe form of Ehlers-Danlos syndrome (EDS) although significant complications can occur. Common symptoms include joint hypermobility, affecting both large (elbows, knees) and small (fingers, toes) joints; soft, smooth skin that may be slightly elastic (stretchy) and bruises easily; and chronic musculoskeletal (muscle and bone) pain. While hypermobile EDS is regarded as a genetic condition, the genetic cause is unknown as the gene(s) responsible have not been identified. Inheritance is autosomal dominant.

MalaCards based summary: Hypermobile Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome type 3, is related to ehlers-danlos syndrome, kyphoscoliotic type, 2 and ehlers-danlos syndrome, vascular type. An important gene associated with Hypermobile Ehlers-Danlos Syndrome is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Signal Transduction and Integrin Pathway. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are sleep disturbance and fatigue

Orphanet: 58 Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

GeneReviews: NBK1279

Related Diseases for Hypermobile Ehlers-Danlos Syndrome

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

(show top 50) (show all 375)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, kyphoscoliotic type, 2 32.2 PLOD1 FKBP14
2 ehlers-danlos syndrome, vascular type 30.5 FBN1 COL3A1
3 ehlers-danlos syndrome, classic type, 2 30.5 LOC101448202 COL5A2 COL5A1 COL3A1
4 ehlers-danlos syndrome, hypermobility type 30.2 TNXB COL5A1 COL3A1
5 arterial tortuosity syndrome 30.1 FBN1 COL5A1 COL3A1
6 postural orthostatic tachycardia syndrome 29.9 TNXB FKBP14 FBN1 COL5A2 COL5A1
7 cutis laxa 29.9 FBN1 EFEMP1 COL5A1
8 marfan syndrome 29.8 FBN1 COL5A2 COL3A1 COL1A1
9 connective tissue disease 29.8 TNXB PLOD1 FBN1 COL5A2 COL5A1 COL3A1
10 ehlers-danlos syndrome, classic type, 1 29.8 PLOD1 LOC101448202 FKBP14 COL5A2 COL5A1 COL3A1
11 scoliosis 29.7 PLOD1 GRIN2B FBN1 EFEMP1 COL1A1
12 inguinal hernia 29.7 FBN1 EFEMP1 COL5A1 COL3A1
13 bethlem myopathy 1 29.7 PLOD1 FKBP14 COL3A1
14 caspase 8 deficiency 29.5 TNXB PLOD1 FKBP14 COL5A2 COL5A1
15 aortic valve disease 1 29.4 FBN1 COL5A2 COL5A1 COL3A1 COL1A1
16 ehlers-danlos syndrome 29.4 TNXB PLOD1 LOC101448202 FKBP14 FBN1 COL5A2
17 keratoconus 29.4 FBN1 COL5A1 COL1A1
18 hypermobility syndrome 29.3 TNXB PLOD1 FKBP14 FBN1 COL5A2 COL5A1
19 classic ehlers-danlos syndrome 29.2 TNXB LOC101448202 COL5A2 COL5A1 COL1A1
20 orthostatic intolerance 29.2 TNXB PLOD1 FBN1 COL5A2 COL5A1 COL3A1
21 brittle bone disorder 28.8 TNXB PLOD1 FKBP14 FBN1 COL5A2 COL5A1
22 loeys-dietz syndrome 28.6 TNXB PLOD1 FKBP14 FBN1 COL5A2 COL5A1
23 aortic aneurysm, familial thoracic 4 28.6 PLOD1 LOC101448202 FBN1 COL5A2 COL5A1 COL3A1
24 collagen disease 28.6 TNXB PLOD1 FKBP14 FBN1 COL5A2 COL5A1
25 aortic aneurysm, familial thoracic 1 28.5 PLOD1 LOC101448202 FBN1 COL5A2 COL5A1 COL3A1
26 ehlers-danlos syndrome, kyphoscoliotic type, 1 11.3
27 cardiac valvular dysplasia, x-linked 11.3
28 ehlers-danlos syndrome, musculocontractural type, 1 11.3
29 anauxetic dysplasia 3 11.3
30 ehlers-danlos syndrome, classic-like 11.2
31 ehlers-danlos syndrome, arthrochalasia type, 1 11.2
32 ehlers-danlos syndrome, spondylodysplastic type, 1 11.2
33 ehlers-danlos syndrome, cardiac valvular type 11.2
34 ehlers-danlos syndrome, dermatosparaxis type 11.2
35 anauxetic dysplasia 1 11.2
36 viss syndrome 11.2
37 boudin-mortier syndrome 11.2
38 angel-shaped phalangoepiphyseal dysplasia 11.0
39 ehlers-danlos syndrome, periodontal type, 1 11.0
40 peripheral dysostosis 11.0
41 shprintzen-goldberg craniosynostosis syndrome 11.0
42 brittle cornea syndrome 1 11.0
43 metaphyseal dysplasia without hypotrichosis 11.0
44 oculopalatocerebral syndrome 11.0
45 three m syndrome 1 11.0
46 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.0
47 intellectual developmental disorder, x-linked, syndromic 33 11.0
48 meester-loeys syndrome 11.0
49 lowe oculocerebrorenal syndrome 11.0
50 chromosome 2q37 deletion syndrome 11.0

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



Diseases related to Hypermobile Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Hypermobile Ehlers-Danlos Syndrome

Human phenotypes related to Hypermobile Ehlers-Danlos Syndrome:

58 30 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sleep disturbance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002360
2 fatigue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012378
3 acrocyanosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001063
4 vertigo 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002321
5 arthralgia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002829
6 myalgia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003326
7 hip dislocation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002827
8 joint hyperflexibility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005692
9 wormian bones 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002645
10 elbow dislocation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003042
11 hyperextensible skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000974
12 nausea and vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002017
13 depression 58 30 Frequent (33%) Frequent (79-30%)
HP:0000716
14 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
15 pes planus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001763
16 malabsorption 58 30 Frequent (33%) Frequent (79-30%)
HP:0002024
17 decreased nerve conduction velocity 58 30 Frequent (33%) Frequent (79-30%)
HP:0000762
18 arrhythmia 58 30 Frequent (33%) Frequent (79-30%)
HP:0011675
19 migraine 58 30 Frequent (33%) Frequent (79-30%)
HP:0002076
20 osteoarthritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002758
21 thin skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000963
22 soft skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000977
23 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
24 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
25 inguinal hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000023
26 gingival overgrowth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000212
27 umbilical hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001537
28 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
29 microdontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000691
30 aplasia/hypoplasia of the abdominal wall musculature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010318
31 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
32 atypical scarring of skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000987
33 arterial dissection 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005294
34 subcutaneous nodule 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001482
35 decreased fertility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000144
36 gingivitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000230
37 apnea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002104
38 paresthesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003401
39 anorectal anomaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012732
40 abnormality of the menstrual cycle 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000140
41 venous insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005293
42 limitation of joint mobility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001376
43 keratoconus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000563
44 keratoconjunctivitis sicca 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001097
45 abnormal palate morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000174
46 osteolysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002797
47 tendon rupture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100550
48 abnormality of the wrist 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003019
49 gastrointestinal dysmotility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002579
50 cystocele 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100645

MGI Mouse Phenotypes related to Hypermobile Ehlers-Danlos Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 ABCC9 ARID1B COL1A1 COL3A1 COL5A1 COL5A2
2 cardiovascular system MP:0005385 10.03 ABCC9 ARID1B COL1A1 COL3A1 COL5A1 COL5A2
3 muscle MP:0005369 9.97 ABCC9 ARID1B COL1A1 COL3A1 EFEMP1 FBN1
4 hematopoietic system MP:0005397 9.81 ABCC9 ARID1B COL1A1 COL3A1 EFEMP1 FBN1
5 mortality/aging MP:0010768 9.73 ABCC9 ARID1B COL1A1 COL3A1 COL5A1 COL5A2
6 integument MP:0010771 9.28 ARID1B COL1A1 COL3A1 COL5A1 COL5A2 EFEMP1

Drugs & Therapeutics for Hypermobile Ehlers-Danlos Syndrome

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
2
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
3
Prednisolone Approved, Vet_approved Phase 3 50-24-8 4894 5755
4
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5 1875
5
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 4159 6741
6
Acyclovir Approved Phase 3 59277-89-3 2022
7
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7 4897
8 Anti-Inflammatory Agents Phase 3
9 Antineoplastic Agents, Hormonal Phase 3
10 Neuroprotective Agents Phase 3
11 Hormones Phase 3
12 Hormone Antagonists Phase 3
13 Antiemetics Phase 3
14 glucocorticoids Phase 3
15
Methylprednisolone Acetate Phase 3 584547
16 Gastrointestinal Agents Phase 3
17 Protective Agents Phase 3
18 Antiviral Agents Phase 3
19 Anti-Infective Agents Phase 3
20
Oxytocin Approved, Vet_approved Phase 1, Phase 2 50-56-6 439302 53477758
21
Thrombin Approved, Investigational
22 Anesthetics
23 Analgesics, Opioid
24 Immunoglobulins
25 Antibodies
26 Hemostatics

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 Herpetic Eye Disease Study (HEDS) I Unknown status NCT00000138 Phase 3 Prednisolone Phosphate;Acyclovir
2 Herpetic Eye Disease Study (HEDS) II Completed NCT00000139 Phase 3 Acyclovir
3 Oxytocin Treatment for Chronic Pain in Hypermobile Ehlers-Danlos Syndrome Enrolling by invitation NCT05405257 Phase 1, Phase 2 Oxytocin
4 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Unknown status NCT03575182
5 Validity of Somatosensori Remediation for Postural Control in the Treatment of Ehlers-Danlos Syndrome Hypermobility Type (hEDS) Unknown status NCT04020107
6 Effectiveness of Wearing a Compression Garment (SED CICATREX® Model) for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Unknown status NCT02144532
7 Prevalence of FODMAP Intolerance and Joint Hypermobility Syndrome in Functional Bowel Patients and Association With Microbiome, Dyssynergic Defecation and Dietary Intervention - a Prospective Cohort Study With Health-related Intervention Unknown status NCT03460613
8 Lung Volume Perception and Impact of a Cognitive Task on Ventilation in Healthy Subjects and Subjects With Hypermobile Ehlers-Danlos Syndrome. Completed NCT05000151
9 Integrative Medicine for Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos (EDS) Syndromes: A Mixed-methods Feasibility Study Completed NCT04734041
10 Assessment of Gastric Motility on Funtional Dyspepsia and Joint Hypermobility Syndrome Completed NCT04279990
11 Opioid-Free Intravenous Anesthesia for Patients With Joint Hypermobility Syndrome Undergoing Craneo-Cervical Fixation: A Case-series Study Focused on Anti-hyperalgesic Approach Completed NCT04437589
12 A Study to Assess Benign Joint Hypermobility Syndrome in Children With a History of Wheezing or Asthma Completed NCT02163096
13 The Clinical Outcomes Comparing Open and Arthroscopic Modified Broström Operation in Chronic Lateral Ankle Instability and Generalized Joint Laxity Completed NCT05284188
14 The Influence of Whole-body Vibration Training on Postural Stability in People With Generalized Joint Hypermobility Completed NCT05573880
15 Measuring Central Sensitization and Physical Activity in Adolescents With Hypermobility Spectrum Disorder or Hypermobile Ehlers-Danlos Syndrome Recruiting NCT05633225
16 Investigation of Light Exposure on Pain Severity and Quality of Life in Individuals With Hypermobile Ehlers-Danlos Syndrome: A Pilot Study Recruiting NCT05561270
17 Comprehensive Assessment of Nutrition & Dietary Intervention in Hypermobile Ehlers Danlos Syndrome (hEDS/HSD): a Personalised Approach: Phase 2 & 3 Recruiting NCT05148039
18 Hypermobile Ehlers-Danlos Syndrome: Efficacy of Non-invasive Vagal Nerve Stimulation and Effects on Brain-Gut Physiology Recruiting NCT05212129
19 Evaluation and Management of Dyspnea in Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD) Recruiting NCT04972565
20 Autonomic Neuropathy and Its Pathophysiology in Autoimmune Autonomic Neuropathies, Postural Orthostatic Tachycardia Syndrome and Ehlers Danlos Syndromes: Peripheral Autonomic Small Fiber Neuropathy or Central Autonomic Failure? Recruiting NCT04310644
21 The Effect of Joint Hypermobility Syndrome on Delayed Onset of Muscle Soreness and Recovery Time Recruiting NCT04934267
22 The Clinical Outcomes Comparing the Modified Broström vs Anatomic Reconstruction Operation in Chronic Lateral Ankle Instability and Generalized Joint Laxity Recruiting NCT05196906
23 Decrypting the Ultrastructural Collagen Markers Using Quantitative Nano Histology: A Quest for Newer Diagnostic Test in Hypermobile Ehlers-Danlos Syndrome Enrolling by invitation NCT05429996
24 Disordered Bleeding in Ehlers Danlos Syndromes Enrolling by invitation NCT05434728
25 Effectiveness of a 6-month Home-based Exercise Program for Treating Shoulder Instability in Patients With Hypermobile Ehlers-Danlos Syndrome (hEDS) or Hypermobility Spectrum Disorder (HSD): A Pilot Randomized Controlled Trial. Terminated NCT04666896

Search NIH Clinical Center for Hypermobile Ehlers-Danlos Syndrome

Genetic Tests for Hypermobile Ehlers-Danlos Syndrome

Genetic tests related to Hypermobile Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Joint Hypermobility 28

Anatomical Context for Hypermobile Ehlers-Danlos Syndrome

Organs/tissues related to Hypermobile Ehlers-Danlos Syndrome:

MalaCards : Skin, Bone, Eye, Lung, Brain, Heart, Small Intestine

Publications for Hypermobile Ehlers-Danlos Syndrome

Articles related to Hypermobile Ehlers-Danlos Syndrome:

(show top 50) (show all 1742)
# Title Authors PMID Year
1
The 2017 international classification of the Ehlers-Danlos syndromes. 62 24
28306229 2017
2
Measurement properties of clinical assessment methods for classifying generalized joint hypermobility-A systematic review. 62 24
28306223 2017
3
A framework for the classification of joint hypermobility and related conditions. 62 24
28145606 2017
4
Is there any link between joint hypermobility and mitral valve prolapse in patients with fibromyalgia syndrome? 62 24
26216348 2016
5
Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. 62 24
24752348 2014
6
Exercise in children with joint hypermobility syndrome and knee pain: a randomised controlled trial comparing exercise into hypermobile versus neutral knee extension. 62 24
23941143 2013
7
Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome. 62 24
22556148 2012
8
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. 62 24
22696272 2012
9
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type and Down syndrome. 62 24
22522202 2012
10
Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study. 62 24
22633352 2012
11
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients. 62 24
22847925 2012
12
Muscle-tendon tissue properties in the hypermobility type of Ehlers-Danlos syndrome. 62 24
22232076 2012
13
Postural tachycardia syndrome--current experience and concepts. 62 24
22143364 2011
14
Balance, gait, falls, and fear of falling in women with the hypermobility type of Ehlers-Danlos syndrome. 62 24
21793229 2011
15
Joint hypermobility syndrome: problems that require psychological intervention. 62 24
21373784 2011
16
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type: a kinematic and kinetic evaluation using 3D gait analysis. 62 24
21420276 2011
17
Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome. 62 24
21636074 2011
18
Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis. 62 24
21391202 2011
19
Pregnancy and delivery in ehlers-danlos syndrome (hypermobility type): review of the literature. 62 24
21765833 2011
20
Both pain and fatigue are important possible determinants of disability in patients with the Ehlers-Danlos syndrome hypermobility type. 62 24
21077749 2011
21
Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome. 62 24
19878973 2010
22
Ehlers-Danlos syndrome hypermobility type and the excess of affected females: possible mechanisms and perspectives. 62 24
20684008 2010
23
Pain in ehlers-danlos syndrome is common, severe, and associated with functional impairment. 62 24
20579833 2010
24
Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type). 62 24
19937459 2010
25
Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type. 62 24
20156051 2010
26
The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). 62 24
19842204 2009
27
Ehlers-Danlos syndrome: insights on obstetric aspects. 62 24
17176488 2007
28
Hypermobility syndrome increases the risk for low bone mass. 62 24
16311714 2006
29
Oral health in prevalent types of Ehlers-Danlos syndromes. 62 24
15817074 2005
30
Local anaesthetic failure in joint hypermobility syndrome. 62 24
15684369 2005
31
Abnormal oral vascular network geometric complexity in Ehlers-Danlos syndrome. 62 24
15472658 2004
32
Total knee arthroplasty in Ehlers-Danlos syndrome. 62 24
14973862 2004
33
Dysautonomia in the joint hypermobility syndrome. 62 24
12867232 2003
34
A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. 62 24
12723715 2003
35
Joint hypermobility and genetic collagen disorders: are they related? 62 24
10325741 1999
36
Chronic pain is a manifestation of the Ehlers-Danlos syndrome. 62 24
9262038 1997
37
Clinical and echocardiographic survey of the Ehlers-Danlos syndrome. 62 24
9159540 1997
38
Variation among DNA banking consent forms: points for clinicians to bank on. 24
35834113 2022
39
Reference values for echocardiographic assessment of the diameter of the aortic root and ascending aorta spanning all age categories. 24
25092193 2014
40
Gait pattern in two rare genetic conditions characterized by muscular hypotonia: Ehlers-Danlos and Prader-Willi syndrome. 24
21454046 2011
41
Managing chronic pain in a young adolescent girl with Ehlers-Danlos syndrome. 24
21916827 2011
42
Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. 24
21193204 2011
43
Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients. 24
20140961 2010
44
Desmopressin responsiveness in children with Ehlers-Danlos syndrome associated bleeding symptoms. 24
19036109 2009
45
Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue. 24
18074684 2007
46
Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes. 24
16353246 2006
47
Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. 24
16278880 2005
48
Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations. 24
15733269 2005
49
Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. 24
15566352 2004
50
Ehlers-Danlos Syndrome (EDS) focusing on oral symptoms: a questionnaire study. 24
15359504 2004

Variations for Hypermobile Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Hypermobile Ehlers-Danlos Syndrome:

5 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775) CN GAIN Pathogenic
523240 GRCh37: 1:12019879-12028775
GRCh38:
2 EFEMP1 NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs) DEL Pathogenic
691884 rs1572850869 GRCh37: 2:56144993-56144997
GRCh38: 2:55917858-55917862
3 EFEMP1 NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter) SNV Pathogenic
691885 rs765517862 GRCh37: 2:56108772-56108772
GRCh38: 2:55881637-55881637
4 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775) CN GAIN Pathogenic
523241 GRCh37: 1:12019879-12028775
GRCh38:
5 ABCC9 NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) SNV Pathogenic
31946 rs387907208 GRCh37: 12:21995261-21995261
GRCh38: 12:21842327-21842327
6 PLOD1 NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter) SNV Pathogenic
Pathogenic
374077 rs1057518879 GRCh37: 1:12025628-12025628
GRCh38: 1:11965571-11965571
7 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Pathogenic
163462 rs727503054 GRCh37: 15:48712949-48712949
GRCh38: 15:48420752-48420752
8 FKBP14 NM_017946.4(FKBP14):c.362dup (p.Glu122fs) DUP Pathogenic
279809 rs542489955 GRCh37: 7:30058726-30058727
GRCh38: 7:30019110-30019111
9 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr) SNV Pathogenic
13919 rs74799832 GRCh37: 10:43617416-43617416
GRCh38: 10:43121968-43121968
10 FBN1 NM_000138.5(FBN1):c.840_843del (p.Asn280fs) DEL Pathogenic
374115 rs1057518909 GRCh37: 15:48826296-48826299
GRCh38: 15:48534099-48534102
11 ARID1B NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) SNV Pathogenic
210306 rs797045283 GRCh37: 6:157528243-157528243
GRCh38: 6:157207109-157207109
12 GRIN2B NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) SNV Pathogenic
373930 rs876661151 GRCh37: 12:13761545-13761545
GRCh38: 12:13608611-13608611
13 COL1A1 NM_000088.4(COL1A1):c.3168del (p.Val1057fs) DEL Pathogenic
523322 rs1555572254 GRCh37: 17:48265930-48265930
GRCh38: 17:50188569-50188569
14 COL5A1, LOC101448202 NM_000093.5(COL5A1):c.5150_5158del (p.Asp1717_Glu1719del) DEL Likely Pathogenic
523326 rs1554726245 GRCh37: 9:137726828-137726836
GRCh38: 9:134834982-134834990
15 COL5A1 NM_000093.5(COL5A1):c.2903del (p.Pro968fs) DEL Likely Pathogenic
374067 rs1057518871 GRCh37: 9:137690256-137690256
GRCh38: 9:134798410-134798410
16 COL5A2 NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys) SNV Likely Pathogenic
523366 rs1553517323 GRCh37: 2:189949930-189949930
GRCh38: 2:189085204-189085204
17 COL3A1 NM_000090.4(COL3A1):c.4096C>T (p.Gln1366Ter) SNV Likely Pathogenic
216910 rs863224860 GRCh37: 2:189875458-189875458
GRCh38: 2:189010732-189010732
18 COL1A1 NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) SNV Likely Pathogenic
17343 rs72645347 GRCh37: 17:48273698-48273698
GRCh38: 17:50196337-50196337
19 TNXB NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val) SNV Likely Pathogenic
217018 rs201397168 GRCh37: 6:32036313-32036313
GRCh38: 6:32068536-32068536
20 FBN1 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) SNV Uncertain Significance
200029 rs762400500 GRCh37: 15:48936828-48936828
GRCh38: 15:48644631-48644631
21 DCHS1 NM_003737.4(DCHS1):c.1679C>T (p.Ser560Phe) SNV Uncertain Significance
598956 rs143753116 GRCh37: 11:6661166-6661166
GRCh38: 11:6639935-6639935
22 NSDHL NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) SNV Uncertain Significance
373975 rs142351862 GRCh37: X:152037592-152037592
GRCh38: X:152869048-152869048
23 ZNF469 NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser) SNV Uncertain Significance
523412 rs887755283 GRCh37: 16:88503410-88503410
GRCh38: 16:88437002-88437002
24 NOTCH1 NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn) SNV Uncertain Significance
222755 rs869025493 GRCh37: 9:139417349-139417349
GRCh38: 9:136522897-136522897
25 ZNF469 NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp) SNV Uncertain Significance
523411 rs1555518955 GRCh37: 16:88496447-88496447
GRCh38: 16:88430039-88430039
26 TSC2 NM_000548.5(TSC2):c.5194C>G (p.Pro1732Ala) SNV Uncertain Significance
575511 rs759007975 GRCh37: 16:2138261-2138261
GRCh38: 16:2088260-2088260
27 COL3A1 NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) SNV Uncertain Significance
199744 rs144614075 GRCh37: 2:189873942-189873942
GRCh38: 2:189009216-189009216
28 DCHS1 NM_003737.4(DCHS1):c.877G>A (p.Glu293Lys) SNV Uncertain Significance
598957 rs140867718 GRCh37: 11:6661968-6661968
GRCh38: 11:6640737-6640737
29 COL4A2 NM_001846.4(COL4A2):c.551G>A (p.Gly184Asp) SNV Uncertain Significance
523446 rs1555328401 GRCh37: 13:111082749-111082749
GRCh38: 13:110430402-110430402
30 ZNF469 NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu) SNV Uncertain Significance
320853 rs781096189 GRCh37: 16:88494348-88494348
GRCh38: 16:88427940-88427940
31 DCHS1 NM_003737.4(DCHS1):c.379G>A (p.Val127Ile) SNV Likely Benign
376786 rs112402535 GRCh37: 11:6662466-6662466
GRCh38: 11:6641235-6641235
32 COL3A1 NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg) SNV Not Provided
424386 rs769100283 GRCh37: 2:189872805-189872805
GRCh38: 2:189008079-189008079
33 TNXB NM_001365276.2(TNXB):c.2531A>G (p.Gln844Arg) SNV Not Provided
440954 rs1187997184 GRCh37: 6:32056810-32056810
GRCh38: 6:32089033-32089033

Expression for Hypermobile Ehlers-Danlos Syndrome

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

Pathways for Hypermobile Ehlers-Danlos Syndrome

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1 13.52 RET GRIN2B FBN1 COL5A2 COL5A1 COL3A1
2
Show member pathways
13.18 FBN1 EFEMP1 COL5A2 COL5A1 COL3A1 COL1A1
3
Show member pathways
12.83 FBN1 EFEMP1 COL5A2 COL5A1 COL3A1 COL1A1
4
Show member pathways
12.73 TNXB COL5A2 COL5A1 COL3A1 COL1A1
5 12.63 GRIN2B COL5A2 COL5A1 COL3A1 COL1A1
6
Show member pathways
12.6 PLOD1 COL5A2 COL5A1 COL3A1 COL1A1
7
Show member pathways
12.21 FBN1 COL5A2 COL5A1 COL3A1 COL1A1
8 12.05 TNXB COL5A2 COL1A1
9
Show member pathways
12 COL1A1 COL3A1 COL5A1 COL5A2
10
Show member pathways
11.87 TNXB PLOD1 FBN1 EFEMP1 COL5A2 COL5A1
11
Show member pathways
11.74 COL3A1 COL5A1 COL5A2
12
Show member pathways
11.66 TNXB FBN1 COL5A2 COL5A1 COL3A1 COL1A1
13
Show member pathways
11.65 COL5A2 COL5A1 COL3A1
14 11.38 COL1A1 COL3A1 COL5A1 COL5A2
15 11.19 FBN1 COL1A1
16 11.14 TNXB COL5A2 COL5A1 COL3A1
17 11.11 PLOD1 COL1A1
18 11.1 COL3A1 COL1A1
19 10.93 COL5A2 COL5A1 COL3A1 COL1A1
20 10.81 FBN1 EFEMP1 COL5A2 COL5A1 COL3A1 COL1A1
21 10.77 COL5A1 COL3A1 COL1A1

GO Terms for Hypermobile Ehlers-Danlos Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.93 FKBP14 FBN1 COL5A2 COL5A1 COL3A1 COL1A1
2 collagen-containing extracellular matrix GO:0062023 9.8 COL1A1 COL3A1 COL5A1 COL5A2 EFEMP1 FBN1
3 collagen type XI trimer GO:0005592 9.67 COL5A2 COL5A1
4 collagen type V trimer GO:0005588 9.62 COL5A2 COL5A1
5 collagen trimer GO:0005581 9.56 COL5A2 COL5A1 COL3A1 COL1A1
6 extracellular matrix GO:0031012 9.47 TNXB FBN1 EFEMP1 COL5A2 COL5A1 COL3A1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular response to amino acid stimulus GO:0071230 9.91 COL5A2 COL3A1 COL1A1
2 extracellular matrix organization GO:0030198 9.85 TNXB COL5A2 COL5A1 COL3A1 COL1A1
3 supramolecular fiber organization GO:0097435 9.83 COL5A1 COL3A1
4 elastic fiber assembly GO:0048251 9.81 TNXB COL3A1
5 embryonic eye morphogenesis GO:0048048 9.8 FBN1 EFEMP1
6 blood vessel development GO:0001568 9.8 COL5A1 COL3A1 COL1A1
7 collagen biosynthetic process GO:0032964 9.78 COL5A1 COL1A1
8 eye morphogenesis GO:0048592 9.67 COL5A2 COL5A1
9 anatomical structure development GO:0048856 9.63 COL5A2 COL3A1 COL1A1
10 post-embryonic eye morphogenesis GO:0048050 9.62 EFEMP1 FBN1
11 negative regulation of endodermal cell differentiation GO:1903225 9.56 COL5A2 COL5A1
12 skin development GO:0043588 9.56 COL5A2 COL5A1 COL3A1 COL1A1
13 collagen fibril organization GO:0030199 9.32 TNXB COL5A2 COL5A1 COL3A1 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.86 TNXB FBN1 COL5A1 COL3A1
2 platelet-derived growth factor binding GO:0048407 9.63 COL5A1 COL3A1 COL1A1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.56 COL5A2 COL5A1 COL3A1 COL1A1
4 extracellular matrix structural constituent GO:0005201 9.47 TNXB FBN1 EFEMP1 COL5A2 COL5A1 COL3A1

Sources for Hypermobile Ehlers-Danlos Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....