MCID: HYP007
MIFTS: 35

Hypermobility Syndrome

Categories: Bone diseases

Aliases & Classifications for Hypermobility Syndrome

MalaCards integrated aliases for Hypermobility Syndrome:

Name: Hypermobility Syndrome 12 54 15 70 32
Benign Joint Hypermobility 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13781
ICD9CM 34 728.5
SNOMED-CT 67 85551004
ICD10 32 M35.7
UMLS 70 C0152093

Summaries for Hypermobility Syndrome

MalaCards based summary : Hypermobility Syndrome, also known as benign joint hypermobility, is related to ehlers-danlos syndrome, hypermobility type and hypermobile ehlers-danlos syndrome. An important gene associated with Hypermobility Syndrome is TNXB (Tenascin XB), and among its related pathways/superpathways are Collagen chain trimerization and Focal Adhesion. The drugs Nutrients and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include skin and spleen, and related phenotype is integument.

Wikipedia : 73 Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal. For... more...

Related Diseases for Hypermobility Syndrome

Diseases related to Hypermobility Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, hypermobility type 32.2 TNXB COL3A1
2 hypermobile ehlers-danlos syndrome 31.8 TNXB COL5A2 COL5A1 COL1A1
3 marfan syndrome 31.3 COL5A2 COL5A1 COL3A1 COL1A1
4 orthostatic intolerance 30.6 COL5A2 COL5A1 COL3A1
5 ehlers-danlos syndrome 30.4 TNXB COL5A2 COL5A1 COL3A1 COL1A1 C1R
6 pelvic organ prolapse 30.0 TNXB COL3A1 COL1A1
7 ehlers-danlos syndrome, vascular type 29.8 COL5A1 COL3A1
8 classic ehlers-danlos syndrome 29.6 TNXB COL5A2 COL5A1 COL1A1
9 brittle bone disorder 29.6 TNXB PEPD COL5A2 COL5A1 COL3A1 COL1A1
10 preterm premature rupture of the membranes 29.4 RLN2 RLN1 COL5A2 COL5A1
11 connective tissue disease 29.4 TNXB PEPD COL5A2 COL5A1 COL3A1 COL1A1
12 loeys-dietz syndrome 29.3 COL5A2 COL5A1 COL3A1 CAPN14
13 marfanoid hypermobility syndrome 11.4
14 joint laxity, familial 11.3
15 hypermobility of coccyx 11.0
16 developmental coordination disorder 10.9
17 chronic pain 10.4
18 fibromyalgia 10.3
19 dysautonomia 10.2
20 varicose veins 10.2
21 tibialis tendinitis 10.1 TNXB COL5A2
22 postural orthostatic tachycardia syndrome 10.1
23 enthesopathy 10.1
24 constipation 10.1
25 back pain 10.1
26 agoraphobia 10.1
27 panic disorder 10.1
28 headache 10.1
29 osteogenesis imperfecta, type i 10.1 PEPD COL1A1
30 ehlers-danlos syndrome, classic type, 2 10.1 COL5A2 COL5A1 COL3A1
31 plantar fascial fibromatosis 10.1 COL3A1 COL1A1
32 spermatogenic failure 8 10.0 RLN2 RLN1
33 carpal tunnel syndrome 10.0
34 migraine with or without aura 1 10.0
35 scoliosis 10.0
36 urinary tract infection 10.0
37 arthropathy 10.0
38 pure autonomic failure 10.0
39 autonomic dysfunction 10.0
40 syncope 10.0
41 epicondylitis 10.0 COL5A1 COL1A1
42 reflex sympathetic dystrophy 10.0
43 brown syndrome 10.0
44 alternating exotropia 10.0
45 exotropia 10.0
46 sciatic neuropathy 10.0
47 autonomic neuropathy 10.0
48 tarsal tunnel syndrome 10.0
49 algoneurodystrophy 10.0
50 neuropathy 10.0

Graphical network of the top 20 diseases related to Hypermobility Syndrome:



Diseases related to Hypermobility Syndrome

Symptoms & Phenotypes for Hypermobility Syndrome

MGI Mouse Phenotypes related to Hypermobility Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.23 COL1A1 COL3A1 COL5A1 COL5A2 PEPD RLN1

Drugs & Therapeutics for Hypermobility Syndrome

Drugs for Hypermobility Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Nutrients
2 Anesthetics
3 Analgesics, Opioid
4 Immunoglobulins
5 Antibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assistant Professor Completed NCT02869373 Phase 2
2 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Unknown status NCT02854098
3 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Unknown status NCT03575182
4 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
5 A Study to Assess Benign Joint Hypermobility Syndrome in Children With a History of Wheezing or Asthma Completed NCT02163096
6 Assessment of Gastric Motility on Funtional Dyspepsia and Joint Hypermobility Syndrome Completed NCT04279990
7 Progressive Heavy Shoulder Resistance Training for Patients With Hypermobility Spectrum Disorders and Shoulder Symptoms: a Feasibility Study Completed NCT03547570
8 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
9 Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia Syndrome Active, not recruiting NCT02196376
10 Shoulder Exercises in Patients With Hypermobility Spectrum Disorder and Long-lasting Shoulder Symptoms: A Randomised Controlled Trial Active, not recruiting NCT03869307

Search NIH Clinical Center for Hypermobility Syndrome

Genetic Tests for Hypermobility Syndrome

Anatomical Context for Hypermobility Syndrome

MalaCards organs/tissues related to Hypermobility Syndrome:

40
Skin, Spleen

Publications for Hypermobility Syndrome

Articles related to Hypermobility Syndrome:

(show top 50) (show all 448)
# Title Authors PMID Year
1
Familial orthostatic tachycardia. 54 61
16601453 2006
2
Tenascin-X: a candidate gene for benign joint hypermobility syndrome and hypermobility type Ehlers-Danlos syndrome? 61 54
15708907 2005
3
Practical management strategies for benign hypermobility syndromes. 61
33741806 2021
4
Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study. 61
31318301 2021
5
Do Plantar Pressure and Loading Patterns Vary with Joint Hypermobility in Young Females? 61
32701151 2021
6
Effect of resistance training on muscle properties and function in women with generalized joint hypermobility: a single-blind pragmatic randomized controlled trial. 61
33557909 2021
7
Impact of joint hypermobility syndrome on gastric accommodation and nutrient tolerance in functional dyspepsia. 61
33528850 2021
8
Beyond bones: The relevance of variants of connective tissue (hypermobility) to fibromyalgia, ME/CFS and controversies surrounding diagnostic classification: an observational study. 61
33479068 2021
9
Adaptation of balance reactions following forward perturbations in people with joint hypermobility syndrome. 61
33514339 2021
10
Musculoskeletal and anthropometric factors associated with urinary incontinence in pregnancy. 61
33522357 2021
11
Anti-nuclear Antibody Testing in Children: How Much Is It Really Necessary? 61
33411356 2021
12
Prevalence of ADHD and Autism Spectrum Disorder in Children with Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome: A Retrospective Study. 61
33603376 2021
13
ENDOCRINE REGULATION OF ERYTHROID LINEAGE OF HEMATOPOIESIS IN CHILDREN LIVING UNDER A LOW-DOSE RADIATION EXPOSURE AFTER THE CHORNOBYL NPP ACCIDENT. 61
33361848 2020
14
The effects of joint hypermobility syndrome on the kinematics and kinetics of the vertical jump test. 61
33080434 2020
15
Joint Hypermobility Syndrome in Patients With Functional Dyspepsia. 61
33259162 2020
16
Impact of heritable disorders of connective tissue on daily life of children: Parent perspectives. 61
33244831 2020
17
Surgical Management of Shoulder and Knee Instability in Patients with Ehlers-Danlos Syndrome: Joint Hypermobility Syndrome. 61
32904109 2020
18
Finger orthoses for management of joint hypermobility disorders: Relative effects on hand function and cognitive load. 61
32996434 2020
19
Gait biomechanics in joint hypermobility syndrome: a spatiotemporal, kinematic and kinetic analysis. 61
32086882 2020
20
Comment on "Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review". 61
32504190 2020
21
Response to "Quantitative measures of tissue mechanics to detect hypermobile Ehlers Danlos syndrome and hypermobility syndrome disorders: a systematic review". 61
32488770 2020
22
Ehlers-Danlos Syndrome and Hypermobility Syndrome Compared with Other Common Chronic Pain Diagnoses-A Study from the Swedish Quality Registry for Pain Rehabilitation. 61
32645981 2020
23
Prevalence of generalized joint hypermobility in children with anxiety disorders. 61
32487116 2020
24
Concurrent Joint Hypermobility Syndrome and Spondyloarthropathy: A New Spondyloarthropathy Subgroup With a Less Severe Disease Phenotype? 61
30601197 2020
25
Risk of Injury in Physically Active Students: Associated Factors and Quality of Life Aspects. 61
32276511 2020
26
Clinical management of benign joint hypermobility syndrome: a case series. 61
32476667 2020
27
Correlation between benign joint hypermobility syndrome and primary focal hyperhidrosis in children: a novel concept. 61
32331513 2020
28
Ability of the Bristol Impact of Hypermobility questionnaire to discriminate between people with and without Joint Hypermobility Syndrome: a known-group validity study. 61
31944577 2020
29
Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review. 61
31955324 2020
30
Apical sling for laparoscopic sacrohisteropexy in a young virgin patient with joint hypermobility syndrome. 61
31408291 2020
31
Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. 61
31685485 2019
32
Central fatigue is greater than peripheral fatigue in people with joint hypermobility syndrome. 61
31442925 2019
33
Recognizing and Effectively Managing Hypermobility-Related Conditions. 61
31158283 2019
34
Flexible bodies-Restricted lives: A qualitative exploratory study of embodiment in living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. 61
31347287 2019
35
Are People With Joint Hypermobility Syndrome Slow to Strengthen? 61
30599140 2019
36
The views of people with joint hypermobility syndrome on its impact, management and the use of patient-reported outcome measures. A thematic analysis of open-ended questionnaire responses. 61
30793827 2019
37
Joint hypermobility is a marker for anxiety in children. 61
30926372 2019
38
Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers-Danlos syndrome: A randomized controlled trial. 61
30569502 2019
39
Joint Hypermobility Syndrome Affects Response to a Low Fermentable Oligosaccharide, Disaccharide, Monosaccharide and Polyol Diet in Irritable Bowel Syndrome Patients: A Retrospective Study. 61
30834032 2019
40
Subjective health complaints and illness perception amongst adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-HypermobilityType - a cross-sectional study. 61
29041819 2019
41
Interdisciplinary Pain Management Improves Pain and Function in Pediatric Patients with Chronic Pain Associated with Joint Hypermobility Syndrome. 61
30010052 2019
42
Prevalence and frequency of self-perceived systemic features in people with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. 61
30232714 2019
43
Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. 61
29125009 2019
44
Prevalence of Obstructive Sleep Apnea in Joint Hypermobility Syndrome: A Systematic Review and Meta-Analysis. 61
30736885 2019
45
The effect of combined exercise therapy on knee proprioception, pain intensity and quality of life in patients with hypermobility syndrome: A randomized clinical trial. 61
30691753 2019
46
Hypermobility of joints in dancers. 61
30794600 2019
47
Comparable patient-reported outcomes in females with or without joint hypermobility after hip arthroscopy and capsular plication for femoroacetabular impingement syndrome. 61
31069093 2019
48
Generalized hypermobility syndrome (GHS) alters dynamic plantar pressure characteristics. 61
30412480 2019
49
Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients. 61
31474720 2019
50
Comment on: The multisystemic nature and natural history of joint hypermobility syndrome and Ehlers-Danlos syndrome in children: reply. 61
30239979 2018

Variations for Hypermobility Syndrome

Expression for Hypermobility Syndrome

Search GEO for disease gene expression data for Hypermobility Syndrome.

Pathways for Hypermobility Syndrome

Pathways related to Hypermobility Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 COL5A2 COL5A1 COL3A1 COL1A1
2
Show member pathways
12.4 VTN TNXB COL5A2 COL5A1 COL3A1 COL1A1
3
Show member pathways
12.3 RLN2 RLN1 COL3A1 COL1A1
4
Show member pathways
11.82 VTN TNXB COL5A2 COL5A1 COL3A1 COL1A1
5
Show member pathways
11.8 VTN TNXB COL1A1
6 11.57 VTN COL3A1 COL1A1
7 11.28 VTN COL3A1 COL1A1
8 11.1 VTN COL1A1
9 10.95 VTN COL3A1 COL1A1
10 10.89 TNXB COL5A2 COL5A1 COL3A1
11 10.68 COL5A2 COL5A1 COL3A1 COL1A1

GO Terms for Hypermobility Syndrome

Cellular components related to Hypermobility Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.95 VTN TNXB COL5A2 COL5A1 COL3A1 COL1A1
2 extracellular region GO:0005576 9.91 VTN TNXB RLN2 RLN1 COL5A2 COL5A1
3 endoplasmic reticulum lumen GO:0005788 9.67 COL5A2 COL5A1 COL3A1 COL1A1
4 extracellular matrix GO:0031012 9.55 TNXB COL5A2 COL5A1 COL3A1 COL1A1
5 collagen type V trimer GO:0005588 9.32 COL5A2 COL5A1
6 collagen trimer GO:0005581 9.26 COL5A2 COL5A1 COL3A1 COL1A1
7 collagen-containing extracellular matrix GO:0062023 9.1 VTN TNXB COL5A2 COL5A1 COL3A1 COL1A1

Biological processes related to Hypermobility Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.63 COL5A2 COL3A1 COL1A1
2 cell-matrix adhesion GO:0007160 9.58 VTN TNXB COL3A1
3 skin development GO:0043588 9.46 COL5A2 COL5A1 COL3A1 COL1A1
4 supramolecular fiber organization GO:0097435 9.43 COL5A1 COL3A1
5 extracellular matrix organization GO:0030198 9.43 VTN TNXB COL5A2 COL5A1 COL3A1 COL1A1
6 collagen biosynthetic process GO:0032964 9.37 COL5A1 COL1A1
7 eye morphogenesis GO:0048592 9.32 COL5A2 COL5A1
8 negative regulation of endodermal cell differentiation GO:1903225 9.26 COL5A2 COL5A1
9 collagen fibril organization GO:0030199 9.02 TNXB COL5A2 COL5A1 COL3A1 COL1A1

Molecular functions related to Hypermobility Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.56 VTN TNXB COL5A1 COL3A1
2 heparin binding GO:0008201 9.5 VTN TNXB COL5A1
3 platelet-derived growth factor binding GO:0048407 9.33 COL5A1 COL3A1 COL1A1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.26 COL5A2 COL5A1 COL3A1 COL1A1
5 extracellular matrix structural constituent GO:0005201 9.1 VTN TNXB COL5A2 COL5A1 COL3A1 COL1A1

Sources for Hypermobility 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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