MCID: HYP007
MIFTS: 39

Hypermobility Syndrome

Categories: Bone diseases

Aliases & Classifications for Hypermobility Syndrome

MalaCards integrated aliases for Hypermobility Syndrome:

Name: Hypermobility Syndrome 12 55 15 73
Benign Joint Hypermobility 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13781
ICD10 33 M35.7
ICD9CM 35 728.5
SNOMED-CT 68 156723005 85551004
UMLS 73 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 marfan syndrome. An important gene associated with Hypermobility Syndrome is TNXB (Tenascin XB), and among its related pathways/superpathways are Focal Adhesion and Collagen chain trimerization. The drugs Ephedrine and Isoproterenol have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and skin, and related phenotype is integument.

Wikipedia : 76 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 57)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, hypermobility type 32.8 COL3A1 TNXB
2 marfan syndrome 30.5 COL3A1 COL5A2
3 ehlers-danlos syndrome 28.7 C1R COL3A1 COL5A1 COL5A2 TNXB
4 marfanoid hypermobility syndrome 12.1
5 joint laxity, familial 11.0
6 hypermobility of coccyx 10.9
7 hypermobile ehlers-danlos syndrome 10.5
8 ehlers-danlos syndrome, vascular type 10.2 COL3A1 COL5A1
9 larsen-like syndrome 10.1 COL3A1 COL5A2
10 arterial tortuosity syndrome 10.1 COL5A2 TNXB
11 ehlers-danlos syndrome, classic type, 2 10.1 COL5A1 COL5A2
12 brittle bone disorder 10.0 COL3A1 PEPD
13 anxiety 10.0
14 orthostatic intolerance 10.0
15 caspase 8 deficiency 9.9 COL5A1 COL5A2
16 postural orthostatic tachycardia syndrome 9.9
17 arthropathy 9.9
18 panic disorder 9.9
19 chronic pain 9.9
20 ehlers-danlos syndrome, classic type 9.9 COL5A1 COL5A2
21 celiac disease 1 9.8
22 arthritis 9.8
23 inguinal hernia 9.8
24 dystonia 9.8
25 dysautonomia 9.8
26 connective tissue disease 9.7 COL3A1 COL5A1 TNXB
27 loeys-dietz syndrome 9.7 COL3A1 COL5A2
28 carpal tunnel syndrome 9.7
29 systemic lupus erythematosus 9.7
30 pectus excavatum 9.7
31 rheumatoid arthritis 9.7
32 aging 9.7
33 asthma 9.7
34 mononeuropathy of the median nerve, mild 9.7
35 osteoarthritis 9.7
36 cervical dystonia 9.7
37 obsessive-compulsive personality disorder 9.7
38 esophagitis 9.7
39 polyneuropathy 9.7
40 personality disorder 9.7
41 hyperostosis 9.7
42 cervicitis 9.7
43 laryngitis 9.7
44 diffuse idiopathic skeletal hyperostosis 9.7
45 chronic fatigue syndrome 9.7
46 neuropathy 9.7
47 lupus erythematosus 9.7
48 developmental coordination disorder 9.7
49 aortic coarctation 9.7
50 wandering spleen 9.7

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 9.02 COL3A1 COL5A1 COL5A2 PEPD TNXB

Drugs & Therapeutics for Hypermobility Syndrome

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ephedrine Approved 299-42-3 9294
2
Isoproterenol Approved, Investigational 7683-59-2 3779
3
Oxymetazoline Approved, Investigational 1491-59-4 4636
4
Phenylephrine Approved 59-42-7 6041
5
Pseudoephedrine Approved 90-82-4 7028
6 Adrenergic Agents
7 Adrenergic Agonists
8 Adrenergic alpha-Agonists
9 Adrenergic beta-Agonists
10 Anti-Asthmatic Agents
11 Antibodies
12 Autonomic Agents
13 Bronchodilator Agents
14 Immunoglobulins
15 Mydriatics
16 Nasal Decongestants
17 Neurotransmitter Agents
18 Peripheral Nervous System Agents
19 Protective Agents
20 Respiratory System Agents
21 Vasoconstrictor Agents

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Spinal Stabilization Exercise Effects in Hypermobility Completed NCT02869373 Phase 2
2 A Study to Assess Benign Joint Hypermobility Syndrome in Children With a History of Wheezing or Asthma Completed NCT02163096
3 Association Between Hypermobility and Chronic Musculoskeletal Pain Completed NCT01032863
4 Pelvic Floor Muscle Training (PFMT) in Treatment and Prevention of POP (POP Study) Completed NCT00271297 Not Applicable
5 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Recruiting NCT02854098
6 Prevalence of FODMAP Intolerance and JHS in FGID and Association With Microbiome, Dyssynergic Defecation and Dietary Intervention Recruiting NCT03460613 Not Applicable
7 Genetics of Ehlers-Danlos Syndrome Recruiting NCT03093493
8 Resistance Training for Patients With Hypermobility Spectrum Disorders and Shoulder Symptoms: a Feasibility Study Recruiting NCT03547570 Not Applicable
9 POTS Adrenergic Ab (CIHR Aims #1&2) Recruiting NCT02673996 Phenylephrine;Isoproterenol
10 Comparison of Exercise Therapies for Patellofemoral Pain Recruiting NCT03069547 Not Applicable
11 Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients Active, not recruiting NCT02761928
12 Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia Syndrome Active, not recruiting NCT02196376
13 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Not yet recruiting NCT03575182 Not Applicable

Search NIH Clinical Center for Hypermobility Syndrome

Genetic Tests for Hypermobility Syndrome

Anatomical Context for Hypermobility Syndrome

MalaCards organs/tissues related to Hypermobility Syndrome:

41
Bone, Testes, Skin, Heart, Spleen

Publications for Hypermobility Syndrome

Articles related to Hypermobility Syndrome:

(show top 50) (show all 232)
# Title Authors Year
1
A novel surgical correction and innovative splint for swan neck deformity in hypermobility syndrome. ( 29915767 )
2018
2
COL1A1 Mutations Presenting as Descending Perineum Syndrome in a Young Patient With Hypermobility Syndrome. ( 29502568 )
2018
3
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. ( 29156379 )
2018
4
Focal linear elastosis in a patient with joint hypermobility syndrome. ( 29469764 )
2018
5
The multisystemic nature and natural history of joint hypermobility syndrome and Ehlers-Danlos syndrome in children: New research data conflict with widely held views. ( 29106635 )
2017
6
Subjective health complaints and illness perception amongst adults with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-HypermobilityType - a cross-sectional study. ( 29041819 )
2017
7
Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 29125009 )
2017
8
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? ( 28286774 )
2017
9
Coexistence of spondyloarthritis and joint hypermobility syndrome: rare or unknown association? ( 28933136 )
2017
10
A humanisation approach for the management of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT). ( 28866967 )
2017
11
Mechanisms underlying reflux symptoms and dysphagia in patients with joint hypermobility syndrome, with and without postural tachycardia syndrome. ( 28191707 )
2017
12
Cognitive impairment in women with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 28180909 )
2017
13
Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency: A case series of 72 infants whose parents were accused of child abuse and neglect. ( 29511428 )
2017
14
The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. ( 28306230 )
2017
15
Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 28482708 )
2017
16
Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome. ( 27743500 )
2017
17
Effects of spinal stabilization exercises in women with benign joint hypermobility syndrome: a randomized controlled trial. ( 28361275 )
2017
18
Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: a review for the gastroenterologist. ( 28086259 )
2017
19
The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study. ( 28431150 )
2017
20
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. ( 28266107 )
2017
21
Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain. ( 28286166 )
2017
22
Where do People with Joint Hypermobility Syndrome Present in Secondary Care? The Prevalence in a General Hospital and the Challenges of Classification. ( 27238954 )
2016
23
Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26919608 )
2016
24
Generalized Hyperalgesia in children and adults diagnosed with Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility type: A discriminative analysis. ( 27483212 )
2016
25
Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type. ( 26824670 )
2016
26
Proteomic analysis for the identification of serum diagnostic markers for joint hypermobility syndrome. ( 26709396 )
2016
27
The feasibility of a randomised controlled trial of physiotherapy for adults with joint hypermobility syndrome. ( 27365226 )
2016
28
Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome. ( 27273746 )
2016
29
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type. ( 27518164 )
2016
30
Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers-Danlos syndrome or hypermobility syndrome and their siblings. ( 27377649 )
2016
31
In Response to: Low Back Pain in Benign Joint Hypermobility Syndrome: Do not Forget the Adolescents. ( 27347870 )
2016
32
Nationwide population-based cohort study of celiac disease and risk of Ehlers-Danlos syndrome and joint hypermobility syndrome. ( 27321543 )
2016
33
Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26506923 )
2015
34
Physiotherapy management of joint hypermobility syndrome - a focus group study of patient and health professional perspectives. ( 26116487 )
2015
35
Living with joint hypermobility syndrome: patient experiences of diagnosis, referral and self-care. ( 25911504 )
2015
36
Diagnosis, Management and Assessment of Adults with Joint Hypermobility Syndrome: A UK-Wide Survey of Physiotherapy Practice. ( 25784539 )
2015
37
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 25655071 )
2015
38
Re: Lower Urinary Tract Symptoms in Women with Benign Joint Hypermobility Syndrome: A Case-Control Study. ( 26195385 )
2015
39
A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers-Danlos syndrome, hypermobility type. ( 25791889 )
2015
40
Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge. ( 26316810 )
2015
41
The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 25649985 )
2015
42
Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among flemish physiotherapists. ( 25821093 )
2015
43
Maxillofacial prosthetic rehabilitation for esophageal and laryngeal laxity due to the hypermobility syndrome: A clinical report. ( 25794916 )
2015
44
Prevalence, injury rate and, symptom frequency in generalized joint laxity and joint hypermobility syndrome in a "healthy" college population. ( 25930211 )
2015
45
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. ( 25821090 )
2015
46
Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers-danlos syndrome, hypermobility type. ( 25821092 )
2015
47
PP-5 JOINT HYPERMOBILITY SYNDROME/EHLERS-DANLOS SYNDROME HYPERMOBILITY TYPE AND GASTROINTESTINAL SYMPTOMS. ( 26439570 )
2015
48
The association between temporomandibular disorders and joint hypermobility syndrome: a nationwide population-based study. ( 25687768 )
2015
49
Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives. ( 25654988 )
2015
50
Quality of life prediction in children with joint hypermobility syndrome. ( 25622801 )
2015

Variations for Hypermobility Syndrome

Expression for Hypermobility Syndrome

Search GEO for disease gene expression data for Hypermobility Syndrome.

Pathways for Hypermobility Syndrome

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 region GO:0005576 9.8 C1R COL3A1 COL5A1 COL5A2 TNXB VTN
2 extracellular space GO:0005615 9.73 C1R COL3A1 COL5A1 COL5A2 TNXB VTN
3 endoplasmic reticulum lumen GO:0005788 9.54 COL3A1 COL5A1 COL5A2
4 basement membrane GO:0005604 9.4 COL5A1 VTN
5 collagen trimer GO:0005581 9.33 COL3A1 COL5A1 COL5A2
6 extracellular matrix GO:0031012 9.02 COL3A1 COL5A1 COL5A2 TNXB VTN
7 collagen type V trimer GO:0005588 8.96 COL5A1 COL5A2

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

# Name GO ID Score Top Affiliating Genes
1 skin development GO:0043588 9.5 COL3A1 COL5A1 COL5A2
2 cell-matrix adhesion GO:0007160 9.48 COL3A1 VTN
3 blood vessel development GO:0001568 9.46 COL3A1 COL5A1
4 collagen catabolic process GO:0030574 9.46 COL3A1 COL5A1 COL5A2 PEPD
5 cellular response to amino acid stimulus GO:0071230 9.43 COL3A1 COL5A2
6 supramolecular fiber organization GO:0097435 9.4 COL3A1 COL5A1
7 eye morphogenesis GO:0048592 9.37 COL5A1 COL5A2
8 extracellular matrix organization GO:0030198 9.35 COL3A1 COL5A1 COL5A2 TNXB VTN
9 negative regulation of endodermal cell differentiation GO:1903225 9.26 COL5A1 COL5A2
10 collagen fibril organization GO:0030199 8.92 COL3A1 COL5A1 COL5A2 TNXB

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.43 COL5A1 TNXB VTN
2 SMAD binding GO:0046332 9.32 COL3A1 COL5A2
3 platelet-derived growth factor binding GO:0048407 9.16 COL3A1 COL5A1
4 extracellular matrix structural constituent GO:0005201 9.13 COL3A1 COL5A1 COL5A2
5 integrin binding GO:0005178 8.92 COL3A1 COL5A1 TNXB VTN

Sources for Hypermobility Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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