MCID: HYP007
MIFTS: 38

Hypermobility Syndrome

Categories: Bone diseases
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Aliases & Classifications for Hypermobility Syndrome

MalaCards integrated aliases for Hypermobility Syndrome:

Name: Hypermobility Syndrome 11 53 14 71 31
Benign Joint Hypermobility 11

Classifications:



External Ids:

Disease Ontology 11 DOID:13781
ICD9CM 34 728.5
SNOMED-CT 68 85551004
ICD10 31 M35.7
UMLS 71 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 Integrin Pathway and Phospholipase-C Pathway. The drugs Anesthetics and Analgesics, Opioid have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and spleen, and related phenotypes are cardiovascular system and integument

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 201)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, hypermobility type 32.1 TNXB SLC39A13 COL5A1 COL3A1
2 hypermobile ehlers-danlos syndrome 31.3 TNXB PLOD1 FKBP14 FBN1 COL5A2 COL5A1
3 marfan syndrome 31.2 FBN1 COL5A2 COL3A1 COL1A2 COL1A1
4 ehlers-danlos syndrome, vascular type 30.3 FBN1 COL3A1
5 inguinal hernia 30.1 FBN1 COL5A1 COL3A1
6 pelvic organ prolapse 30.0 COL3A1 COL1A2 COL1A1
7 arterial tortuosity syndrome 29.9 FBN1 COL5A1 COL3A1
8 postural orthostatic tachycardia syndrome 29.8 TNXB FKBP14 FBN1 COL5A2 COL5A1 CHST14
9 connective tissue disease 29.7 TNXB PLOD1 PEPD FBN1 COL5A2 COL5A1
10 classic ehlers-danlos syndrome 29.6 TNXB COL5A2 COL5A1 COL1A2 COL1A1
11 orthostatic intolerance 29.5 TNXB PLOD1 FBN1 COL5A2 COL5A1 COL3A1
12 scoliosis 29.4 PLOD1 FBN1 COL1A2 COL1A1
13 caspase 8 deficiency 28.9 TNXB PLOD1 FKBP14 COL5A2 COL5A1 CHST14
14 ehlers-danlos syndrome 28.6 TNXB SLC39A13 PLOD1 LZTS1 FKBP14 FBN1
15 brittle bone disorder 27.9 TNXB SLC39A13 PLOD1 PEPD FKBP14 FBN1
16 collagen disease 27.6 TNXB SLC39A13 PLOD1 FKBP14 FBN1 COL5A2
17 loeys-dietz syndrome 27.2 TNXB PLOD1 FKBP14 FBN1 COL5A2 COL5A1
18 marfanoid hypermobility syndrome 11.3
19 joint laxity, familial 11.3
20 hypermobility of coccyx 11.1
21 chronic pain 10.4
22 fibromyalgia 10.3
23 fibrochondrogenesis 2 10.3 COL5A2 COL5A1
24 fibrochondrogenesis 10.3 COL5A2 COL5A1
25 carotid artery dissection 10.3 COL5A2 COL3A1
26 anxiety 10.2
27 enterocele 10.2
28 panic disorder 10.2
29 dysautonomia 10.2
30 ehlers-danlos syndrome, kyphoscoliotic type, 2 10.2 PLOD1 FKBP14
31 ureteric orifice cancer 10.2 TNXB FBN1
32 bladder diverticulum 10.2 PLOD1 FKBP14
33 varicose veins 10.2
34 ehlers-danlos syndrome, classic type, 2 10.2 COL5A2 COL5A1 COL3A1
35 epicondylitis 10.2 COL5A1 COL1A1
36 arthropathy 10.2
37 plantar fascial fibromatosis 10.1 COL3A1 COL1A1
38 chiari malformation 10.1 COL5A2 COL1A2
39 bethlem myopathy 1 10.1 PLOD1 FKBP14 COL3A1
40 carpal tunnel syndrome 10.1
41 migraine with or without aura 1 10.1
42 mononeuropathy of the median nerve, mild 10.1
43 agoraphobia 10.1
44 osteoarthritis 10.1
45 back pain 10.1
46 headache 10.1
47 ehlers-danlos/osteogenesis imperfecta syndrome 10.1 COL1A2 COL1A1
48 high bone mass osteogenesis imperfecta 10.1 COL1A2 COL1A1
49 marshall syndrome 10.1 COL5A2 COL5A1 COL1A1
50 ehlers-danlos syndrome, arthrochalasia type, 1 10.1 COL1A2 COL1A1

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 cardiovascular system MP:0005385 9.65 CHST14 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
2 integument MP:0010771 9.36 CHST14 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2

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 Anesthetics
2 Analgesics, Opioid
3 Anti-Inflammatory Agents

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Assistant Professor Completed NCT02869373 Phase 2
2 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Unknown status NCT03575182
3 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
4 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Unknown status NCT02854098
5 Assessment of Gastric Motility on Funtional Dyspepsia and Joint Hypermobility Syndrome Completed NCT04279990
6 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
7 A Study to Assess Benign Joint Hypermobility Syndrome in Children With a History of Wheezing or Asthma Completed NCT02163096
8 Integrative Medicine for Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos (EDS) Syndromes: A Mixed-methods Feasibility Study Completed NCT04734041
9 Shoulder Exercises in Patients With Hypermobility Spectrum Disorder and Long-lasting Shoulder Symptoms: A Randomised Controlled Trial Completed NCT03869307
10 Progressive Heavy Shoulder Resistance Training for Patients With Hypermobility Spectrum Disorders and Shoulder Symptoms: a Feasibility Study Completed NCT03547570
11 The Effect of Joint Hypermobility Syndrome on Delayed Onset of Muscle Soreness and Recovery Time Recruiting NCT04934267
12 Measuring Central Sensitization and Physical Activity in Adolescents With Hypermobility Spectrum Disorder or Hypermobile Ehlers-Danlos Syndrome Recruiting NCT05633225
13 Evaluation and Management of Dyspnea in Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD) Recruiting NCT04972565
14 Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients Terminated NCT02761928
15 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 Hypermobility Syndrome

Genetic Tests for Hypermobility Syndrome

Anatomical Context for Hypermobility Syndrome

Organs/tissues related to Hypermobility Syndrome:

MalaCards : Bone, Skin, Spleen, Lung, Heart, Brain

Publications for Hypermobility Syndrome

Articles related to Hypermobility Syndrome:

(show top 50) (show all 473)
# Title Authors PMID Year
1
Familial orthostatic tachycardia. 53 62
16601453 2006
2
Tenascin-X: a candidate gene for benign joint hypermobility syndrome and hypermobility type Ehlers-Danlos syndrome? 53 62
15708907 2005
3
Autonomic nerve regulation in joint hypermobility patients with myofascial trigger points by Musculoskeletal Interfiber Counterirritant Stimulation (MICS). 62
36371084 2022
4
Urinary Incontinence in Elite Female Athletes. 62
36418531 2022
5
A 13-Year-Old Male Patient With Severe Multifocal Pneumonia and Bronchiectasis That Required Extracorporeal Membrane Oxygenation. 62
36344136 2022
6
Variant connective tissue (joint hypermobility) and its relevance to depression and anxiety in adolescents: a cohort-based case-control study. 62
36450437 2022
7
Musculoskeletal and anthropometric factors associated with urinary incontinence in pregnancy. 62
33522357 2022
8
Hypermobile Ehlers-Danlos Syndrome: A Prodromal Subtype of Functional Movement Disorders? 62
36247916 2022
9
Trusting in the online 'community': An interview study exploring internet use in young people with chronic pain. 62
35646337 2022
10
A Diagnosis of Camptodactyly With Benign Joint Hypermobility Syndrome in a Patient Presenting With Fixed Flexion Deformity of the Fingers and Striae. 62
35891877 2022
11
Effects of Benign Joint Hypermobility Syndrome on the Clinical Characteristics of Carpal Tunnel Syndrome in Females. 62
35274838 2022
12
Iron deficiency and fatigue among adolescents with bleeding disorders. 62
34710246 2022
13
Considerations for lactation with Ehlers-Danlos syndrome: a narrative review. 62
34983567 2022
14
Prolonged standing behaviour in people with joint hypermobility syndrome. 62
34852804 2021
15
Nutritional Implications of Patients with Dysautonomia and Hypermobility Syndromes. 62
34510391 2021
16
Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder. 62
34747107 2021
17
Connecting brain and body: Transdiagnostic relevance of connective tissue variants to neuropsychiatric symptom expression. 62
34733643 2021
18
Anti-nuclear antibody testing in children: How much is really necessary? 62
33411356 2021
19
Snapping Hamstring Tendons Case Report: Tenotomy and Tendon Transposition. 62
34473653 2021
20
The evaluation of nailfold capillaroscopy pattern in patients with fibromyalgia. 62
34870165 2021
21
Comparing sagittal plane kinematics and kinetics of gait and stair climbing between hypermobile and non-hypermobile people; a cross-sectional study. 62
34412618 2021
22
Perioperative outcomes following pelvic floor reconstruction in women with hereditary disorders of connective tissue: a retrospective cohort study. 62
34213599 2021
23
Impact of joint hypermobility syndrome on gastric accommodation and nutrient tolerance in functional dyspepsia. 62
33528850 2021
24
Achenbach's hand and digital paroxysmal haematomas: a possible association with joint hypermobility syndrome in two sibling cases. 62
34422277 2021
25
Chronic Low Back Pain Occurring in Association With Hypermobility Spectrum Disorder and Ehlers-Danlos Syndrome. 62
33963027 2021
26
Impact of heritable disorders of connective tissue on daily life of children: Parent perspectives. 62
33244831 2021
27
Practical management strategies for benign hypermobility syndromes. 62
33741806 2021
28
Prevalence of celiac disease in children with joint hypermobility. 62
34226431 2021
29
Opioid-free anesthesia for patients with joint hypermobility syndrome undergoing craneo-cervical fixation: a case-series study focused on anti-hyperalgesic approach. 62
33849631 2021
30
Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study. 62
31318301 2021
31
Do Plantar Pressure and Loading Patterns Vary with Joint Hypermobility in Young Females? 62
32701151 2021
32
Finger orthoses for management of joint hypermobility disorders: Relative effects on hand function and cognitive load. 62
33834743 2021
33
Effect of resistance training on muscle properties and function in women with generalized joint hypermobility: a single-blind pragmatic randomized controlled trial. 62
33557909 2021
34
Beyond bones: The relevance of variants of connective tissue (hypermobility) to fibromyalgia, ME/CFS and controversies surrounding diagnostic classification: an observational study. 62
33479068 2021
35
Adaptation of balance reactions following forward perturbations in people with joint hypermobility syndrome. 62
33514339 2021
36
Prevalence of ADHD and Autism Spectrum Disorder in Children with Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome: A Retrospective Study. 62
33603376 2021
37
Psychosocial and Motor Characteristics of Patients With Hypermobility. 62
35418881 2021
38
Association between Postural Orthostatic Tachycardia Syndrome and Joint Hypermobility. 62
34055418 2021
39
ENDOCRINE REGULATION OF ERYTHROID LINEAGE OF HEMATOPOIESIS IN CHILDREN LIVING UNDER A LOW-DOSE RADIATION EXPOSURE AFTER THE CHORNOBYL NPP ACCIDENT. 62
33361848 2020
40
The effects of joint hypermobility syndrome on the kinematics and kinetics of the vertical jump test. 62
33080434 2020
41
Joint Hypermobility Syndrome in Patients With Functional Dyspepsia. 62
33259162 2020
42
[Joint hypermobility syndrome]. 62
34020527 2020
43
Surgical Management of Shoulder and Knee Instability in Patients with Ehlers-Danlos Syndrome: Joint Hypermobility Syndrome. 62
32904109 2020
44
Gait biomechanics in joint hypermobility syndrome: a spatiotemporal, kinematic and kinetic analysis. 62
32086882 2020
45
Response to "Quantitative measures of tissue mechanics to detect hypermobile Ehlers Danlos syndrome and hypermobility syndrome disorders: a systematic review". 62
32488770 2020
46
Comment on "Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review". 62
32504190 2020
47
Ehlers-Danlos Syndrome and Hypermobility Syndrome Compared with Other Common Chronic Pain Diagnoses-A Study from the Swedish Quality Registry for Pain Rehabilitation. 62
32645981 2020
48
Prevalence of generalized joint hypermobility in children with anxiety disorders. 62
32487116 2020
49
Clinical management of benign joint hypermobility syndrome: a case series. 62
32476667 2020
50
Correlation between benign joint hypermobility syndrome and primary focal hyperhidrosis in children: a novel concept. 62
32331513 2020

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 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 FBN1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
2
Show member pathways
12.93 FBN1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
3
Show member pathways
12.81 TNXB COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
4 12.7 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5
Show member pathways
12.64 PLOD1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
6
Show member pathways
12.25 FBN1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
7 12.16 TNXB COL5A2 COL1A2 COL1A1
8
Show member pathways
12.02 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
9 11.93 COL3A1 COL1A2 COL1A1
10
Show member pathways
11.92 TNXB PLOD1 FBN1 COL5A2 COL5A1 COL3A1
11
Show member pathways
11.81 COL5A2 COL5A1 COL3A1
12
Show member pathways
11.74 COL3A1 COL1A2 COL1A1
13
Show member pathways
11.72 TNXB FBN1 COL5A2 COL5A1 COL3A1 COL1A2
14
Show member pathways
11.71 COL5A2 COL5A1 COL3A1
15 11.64 FBN1 COL1A2 COL1A1
16 11.54 COL3A1 COL1A2 COL1A1
17 11.48 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
18 11.43 COL3A1 COL1A2 COL1A1
19 11.3 FBN1 COL1A2 COL1A1
20 11.23 TNXB COL5A2 COL5A1 COL3A1 COL1A2
21 11.2 COL1A1 COL1A2 COL3A1
22 11.19 COL1A1 COL1A2 PLOD1
23 11.15 COL3A1 COL1A2
24 11.09 COL1A2 COL1A1
25
Show member pathways
11.07 COL1A2 COL1A1
26 11.03 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
27 11.01 COL1A2 COL1A1
28 10.87 CHST14 B4GALT7
29 10.86 FBN1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
30 10.84 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 collagen-containing extracellular matrix GO:0062023 10.1 TNXB FBN1 COL5A2 COL5A1 COL3A1 COL1A2
2 endoplasmic reticulum lumen GO:0005788 10 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 FBN1
3 collagen type XI trimer GO:0005592 9.71 COL5A2 COL5A1
4 collagen type V trimer GO:0005588 9.67 COL5A2 COL5A1
5 collagen type I trimer GO:0005584 9.62 COL1A2 COL1A1
6 extracellular matrix GO:0031012 9.47 TNXB FBN1 COL5A2 COL5A1 COL3A1 COL1A2
7 collagen trimer GO:0005581 9.35 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 10.06 COL1A1 COL1A2 COL5A2 FBN1
2 cellular response to amino acid stimulus GO:0071230 9.97 COL5A2 COL3A1 COL1A2 COL1A1
3 skin morphogenesis GO:0043589 9.84 COL1A2 COL1A1
4 collagen metabolic process GO:0032963 9.83 TNXB COL1A2
5 elastic fiber assembly GO:0048251 9.81 TNXB COL3A1
6 supramolecular fiber organization GO:0097435 9.8 B4GALT7 COL3A1 COL5A1
7 blood vessel development GO:0001568 9.8 COL5A1 COL3A1 COL1A2 COL1A1
8 collagen biosynthetic process GO:0032964 9.78 COL5A1 COL1A1
9 skin development GO:0043588 9.76 COL5A2 COL5A1 COL3A1 COL1A1
10 eye morphogenesis GO:0048592 9.73 COL5A2 COL5A1
11 extracellular matrix organization GO:0030198 9.73 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 TNXB
12 negative regulation of endodermal cell differentiation GO:1903225 9.71 COL5A2 COL5A1
13 anatomical structure development GO:0048856 9.67 COL5A2 COL3A1 COL1A1
14 collagen fibril organization GO:0030199 9.4 TNXB COL5A2 COL5A1 COL3A1 COL1A2 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 9.86 TNXB FBN1 COL5A1 COL3A1
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.85 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
3 SMAD binding GO:0046332 9.8 COL5A2 COL3A1 COL1A2
4 platelet-derived growth factor binding GO:0048407 9.56 COL5A1 COL3A1 COL1A2 COL1A1
5 extracellular matrix structural constituent GO:0005201 9.47 TNXB FBN1 COL5A2 COL5A1 COL3A1 COL1A2

Sources for Hypermobility 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
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