MCID: HYP007
MIFTS: 36

Hypermobility Syndrome

Categories: Bone diseases

Aliases & Classifications for Hypermobility Syndrome

MalaCards integrated aliases for Hypermobility Syndrome:

Name: Hypermobility Syndrome 12 54 15 71 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 71 C0152093

Summaries for Hypermobility Syndrome

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

Wikipedia : 74 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 162)
# Related Disease Score Top Affiliating Genes
1 hypermobile ehlers-danlos syndrome 32.9 TNXB FBN1
2 marfan syndrome 31.9 FBN1 COL5A2 COL5A1 COL3A1
3 ehlers-danlos syndrome 30.2 TNXB FBN1 COL5A2 COL5A1 COL3A1 C1R
4 pelvic organ prolapse 30.1 TNXB FBN1 COL3A1
5 classic ehlers-danlos syndrome 30.1 TNXB COL5A2 COL5A1
6 preterm premature rupture of the membranes 29.7 RLN1 COL5A2 COL5A1
7 arterial tortuosity syndrome 29.7 FBN1 COL3A1
8 brittle bone disorder 29.6 PEPD FBN1 COL5A2 COL5A1 COL3A1
9 exotropia 29.6 PES1 FBN1
10 loeys-dietz syndrome 29.5 FBN1 COL5A2 COL5A1 COL3A1
11 inguinal hernia 29.5 PES1 FBN1 COL5A1
12 connective tissue disease 29.2 TNXB PEPD FBN1 COL5A2 COL5A1 COL3A1
13 orthostatic intolerance 28.8 TNXB PES1 LAX1 FBN1 COL5A2 COL5A1
14 marfanoid hypermobility syndrome 12.4
15 joint laxity, familial 11.8
16 ehlers-danlos syndrome, hypermobility type 11.7
17 hypermobility of coccyx 11.2
18 chronic pain 10.4
19 fibromyalgia 10.3
20 tibialis tendinitis 10.3 TNXB COL5A2
21 larsen-like syndrome 10.2 COL5A2 COL3A1
22 dysautonomia 10.2
23 spermatogenic failure 8 10.2 RLN2 RLN1
24 varicose veins 10.2
25 ureteric orifice cancer 10.2 TNXB FBN1
26 familial abdominal aortic aneurysm 10.2 FBN1 COL3A1
27 aortic aneurysm, familial thoracic 2 10.2 FBN1 COL3A1
28 tricuspid valve prolapse 10.2 FBN1 COL3A1
29 anxiety 10.1
30 postural orthostatic tachycardia syndrome 10.1
31 enthesopathy 10.1
32 constipation 10.1
33 back pain 10.1
34 heritable thoracic aortic disease 10.1 FBN1 COL3A1
35 agoraphobia 10.1
36 panic disorder 10.1
37 ehlers-danlos syndrome, classic type, 2 10.1 COL5A2 COL5A1 COL3A1
38 brittle cornea syndrome 2 10.1 TNXB COL5A2 COL5A1
39 ehlers-danlos syndrome, classic type, 1 10.1 COL5A2 COL5A1 COL3A1
40 epicondylitis 10.1 PES1 COL5A1
41 carpal tunnel syndrome 10.0
42 migraine with or without aura 1 10.0
43 scoliosis 10.0
44 diarrhea 10.0
45 arthropathy 10.0
46 pure autonomic failure 10.0
47 autonomic dysfunction 10.0
48 syncope 10.0
49 reflex sympathetic dystrophy 10.0
50 brown syndrome 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.28 COL3A1 COL5A1 COL5A2 CTSC FBN1 PEPD

Drugs & Therapeutics for Hypermobility Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Nutrients
2 Analgesics, Opioid
3 Anesthetics
4 Antibodies
5 Immunoglobulins
6 Hormones

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Assistant Professor Completed NCT02869373 Phase 2
2 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
3 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Unknown status NCT02854098
4 A Study to Assess Benign Joint Hypermobility Syndrome in Children With a History of Wheezing or Asthma Completed NCT02163096
5 A Study of Association Between Hypermobility And Chronic MusculoSkeletal Pain:a Pilot Study Completed NCT01032863
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 Opiod-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 The Effect of Hypermobility on Respiratory Functions in Musicians Playing Wind Instruments and Healthy Individuals Not Involved in Music Recruiting NCT04208022
10 Shoulder Exercises in Patients With Hypermobility Spectrum Disorder and Long-lasting Shoulder Symptoms: A Randomised Controlled Trial Recruiting NCT03869307
11 Surgery for Patellofemoral Instability, is There Normal Gait Recruiting NCT02569931
12 Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia Syndrome Active, not recruiting NCT02196376
13 POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME AND GASTROINTESTINAL SYMPTOMS: Contribution of Gastrointestinal Peptides Active, not recruiting NCT03263819
14 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Not yet recruiting NCT03575182
15 Determine the Causative Genetic Variations in Patients With Ehlers-Danlos Syndrome Suspended NCT03093493

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
Testes, Bone, Skin, Spleen, Heart, Lung

Publications for Hypermobility Syndrome

Articles related to Hypermobility Syndrome:

(show top 50) (show all 432)
# Title Authors PMID Year
1
Familial orthostatic tachycardia. 61 54
16601453 2006
2
Tenascin-X: a candidate gene for benign joint hypermobility syndrome and hypermobility type Ehlers-Danlos syndrome? 54 61
15708907 2005
3
Comment on "Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review". 61
32504190 2020
4
Response to "Quantitative measures of tissue mechanics to detect hypermobile Ehlers Danlos syndrome and hypermobility syndrome disorders: a systematic review". 61
32488770 2020
5
Prevalence of generalized joint hypermobility in children with anxiety disorders. 61
32487116 2020
6
Concurrent Joint Hypermobility Syndrome and Spondyloarthropathy: A New Spondyloarthropathy Subgroup With a Less Severe Disease Phenotype? 61
30601197 2020
7
Clinical management of benign joint hypermobility syndrome: a case series. 61
32476667 2020
8
Risk of Injury in Physically Active Students: Associated Factors and Quality of Life Aspects. 61
32276511 2020
9
Correlation between benign joint hypermobility syndrome and primary focal hyperhidrosis in children: a novel concept. 61
32331513 2020
10
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
11
Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review. 61
31955324 2020
12
Gait biomechanics in joint hypermobility syndrome: a spatiotemporal, kinematic and kinetic analysis. 61
32086882 2020
13
Apical sling for laparoscopic sacrohisteropexy in a young virgin patient with joint hypermobility syndrome. 61
31408291 2020
14
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
15
Central fatigue is greater than peripheral fatigue in people with joint hypermobility syndrome. 61
31442925 2019
16
Flexible bodies-Restricted lives: A qualitative exploratory study of embodiment in living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. 61
31347287 2019
17
Recognizing and Effectively Managing Hypermobility-Related Conditions. 61
31158283 2019
18
Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study. 61
31318301 2019
19
Are People With Joint Hypermobility Syndrome Slow to Strengthen? 61
30599140 2019
20
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
21
Joint hypermobility is a marker for anxiety in children. 61
30926372 2019
22
Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers-Danlos syndrome: A randomized controlled trial. 61
30569502 2019
23
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
24
Subjective health complaints and illness perception amongst adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-HypermobilityType - a cross-sectional study. 61
29041819 2019
25
Prevalence and frequency of self-perceived systemic features in people with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. 61
30232714 2019
26
Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. 61
29125009 2019
27
Prevalence of Obstructive Sleep Apnea in Joint Hypermobility Syndrome: A Systematic Review and Meta-Analysis. 61
30736885 2019
28
Interdisciplinary Pain Management Improves Pain and Function in Pediatric Patients with Chronic Pain Associated with Joint Hypermobility Syndrome. 61
30010052 2019
29
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
30
Hypermobility of joints in dancers. 61
30794600 2019
31
Comparable patient-reported outcomes in females with or without joint hypermobility after hip arthroscopy and capsular plication for femoroacetabular impingement syndrome. 61
31069093 2019
32
Measurement of Serum Tenascin-X in Joint Hypermobility Syndrome Patients. 61
31474720 2019
33
Generalized hypermobility syndrome (GHS) alters dynamic plantar pressure characteristics. 61
30412480 2019
34
Comment on: The multisystemic nature and natural history of joint hypermobility syndrome and Ehlers-Danlos syndrome in children. 61
30239925 2018
35
Comment on: The multisystemic nature and natural history of joint hypermobility syndrome and Ehlers-Danlos syndrome in children: reply. 61
30239979 2018
36
A qualitative evaluation of the appropriateness, validity, acceptability, feasibility and interpretability of the Bristol Impact of Hypermobility (BIoH) questionnaire. 61
30312837 2018
37
Musculoskeletal pain and musculoskeletal syndromes in adolescents are related to electronic devices. 61
29172038 2018
38
Hypermobile Ehlers-Danlos syndrome and pregnancy. 61
30214474 2018
39
Higher prevalence of joint hypermobility in constipation predominant irritable bowel syndrome. 61
29687534 2018
40
The relationship between joint hypermobility and subacromial impingement syndrome and adhesive capsulitis of the shoulder. 61
30688930 2018
41
Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. 61
28482708 2018
42
The prevalence of generalized and syndromic hypermobility in elite Australian dancers. 61
29655088 2018
43
The Beighton score as a predictor of Brighton criteria in sport and dance. 61
29793123 2018
44
Spectrum of Gastrointestinal Manifestations in Joint Hypermobility Syndromes. 61
29891041 2018
45
Both anxiety and joint laxity determine the olfactory features in panic disorder. 61
28923431 2018
46
COL1A1 Mutations Presenting as Descending Perineum Syndrome in a Young Patient With Hypermobility Syndrome. 61
29502568 2018
47
Evaluating the immediate effects of wearing foot orthotics in children with Joint Hypermobility Syndrome (JHS) by analysis of temperospatial parameters of gait and dynamic balance: A preliminary study. 61
29156379 2018
48
A novel surgical correction and innovative splint for swan neck deformity in hypermobility syndrome. 61
29915767 2018
49
Joint hypermobility is also associated with anxiety disorders in the elderly population. 61
28543732 2018
50
Focal linear elastosis in a patient with joint hypermobility syndrome. 61
29469764 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 VTN TNXB COL5A2 COL5A1 COL3A1
2
Show member pathways
12.09 VTN TNXB FBN1 COL5A2 COL5A1 COL3A1
3
Show member pathways
11.63 VTN TNXB FBN1
4 10.84 VTN COL3A1
5 10.56 TNXB COL5A2 COL5A1 COL3A1

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 9.97 VTN TNXB FBN1 CTSC COL5A2 COL5A1
2 extracellular region GO:0005576 9.85 VTN TNXB RLN2 RLN1 FBN1 CTSC
3 endoplasmic reticulum lumen GO:0005788 9.65 FBN1 CTSC COL5A2 COL5A1 COL3A1
4 basement membrane GO:0005604 9.61 VTN FBN1 COL5A1
5 collagen trimer GO:0005581 9.58 COL5A2 COL5A1 COL3A1
6 extracellular matrix GO:0031012 9.43 VTN TNXB FBN1 COL5A2 COL5A1 COL3A1
7 collagen type V trimer GO:0005588 9.32 COL5A2 COL5A1
8 collagen-containing extracellular matrix GO:0062023 9.17 VTN TNXB FBN1 CTSC COL5A2 COL5A1

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.76 VTN LAX1 CTSC C1R
2 skeletal system development GO:0001501 9.61 FBN1 COL5A2 COL3A1
3 skin development GO:0043588 9.5 COL5A2 COL5A1 COL3A1
4 cell adhesion mediated by integrin GO:0033627 9.4 VTN FBN1
5 supramolecular fiber organization GO:0097435 9.37 COL5A1 COL3A1
6 eye morphogenesis GO:0048592 9.26 COL5A2 COL5A1
7 collagen fibril organization GO:0030199 9.26 TNXB COL5A2 COL5A1 COL3A1
8 negative regulation of endodermal cell differentiation GO:1903225 9.16 COL5A2 COL5A1
9 extracellular matrix organization GO:0030198 9.1 VTN TNXB FBN1 COL5A2 COL5A1 COL3A1

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.56 VTN TNXB FBN1 COL5A1
2 hormone activity GO:0005179 9.54 RLN2 RLN1 FBN1
3 integrin binding GO:0005178 9.35 VTN TNXB FBN1 COL5A1 COL3A1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.33 COL5A2 COL5A1 COL3A1
5 platelet-derived growth factor binding GO:0048407 9.32 COL5A1 COL3A1
6 extracellular matrix structural constituent GO:0005201 9.1 VTN TNXB FBN1 COL5A2 COL5A1 COL3A1

Sources for Hypermobility Syndrome

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