Hypermobility Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

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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:

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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

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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
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

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Genetic Tests for Hypermobility Syndrome

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Anatomical Context for Hypermobility Syndrome

Organs/tissues related to Hypermobility Syndrome:

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

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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	Keller NR...Robertson D	16601453	2006
2	Tenascin-X: a candidate gene for benign joint hypermobility syndrome and hypermobility type Ehlers-Danlos syndrome? ⁵³ ⁶²	Zweers MC...Schalkwijk J	15708907	2005
3	Autonomic nerve regulation in joint hypermobility patients with myofascial trigger points by Musculoskeletal Interfiber Counterirritant Stimulation (MICS). ⁶²	Carvalho HC...Lazo-Osorio RA	36371084	2022
4	Urinary Incontinence in Elite Female Athletes. ⁶²	Gan ZS...Smith AL	36418531	2022
5	A 13-Year-Old Male Patient With Severe Multifocal Pneumonia and Bronchiectasis That Required Extracorporeal Membrane Oxygenation. ⁶²	Smith KS...O'Hagan AR	36344136	2022
6	Variant connective tissue (joint hypermobility) and its relevance to depression and anxiety in adolescents: a cohort-based case-control study. ⁶²	Eccles JA...Critchley HD	36450437	2022
7	Musculoskeletal and anthropometric factors associated with urinary incontinence in pregnancy. ⁶²	Baran E...Beksac MS	33522357	2022
8	Hypermobile Ehlers-Danlos Syndrome: A Prodromal Subtype of Functional Movement Disorders? ⁶²	Margolesky J...Espay AJ	36247916	2022
9	Trusting in the online 'community': An interview study exploring internet use in young people with chronic pain. ⁶²	Hurley-Wallace A...Bishop F	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	Nishanth S...Ushagowry S	35891877	2022
11	Effects of Benign Joint Hypermobility Syndrome on the Clinical Characteristics of Carpal Tunnel Syndrome in Females. ⁶²	Satis S...Tuna M	35274838	2022
12	Iron deficiency and fatigue among adolescents with bleeding disorders. ⁶²	Zia A...O'Brien SH	34710246	2022
13	Considerations for lactation with Ehlers-Danlos syndrome: a narrative review. ⁶²	Francis J...Dickton DD	34983567	2022
14	Prolonged standing behaviour in people with joint hypermobility syndrome. ⁶²	Bates AV...Alexander CM	34852804	2021
15	Nutritional Implications of Patients with Dysautonomia and Hypermobility Syndromes. ⁶²	Do T...Warren M	34510391	2021
16	Mast cell activation disease and immunoglobulin deficiency in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder. ⁶²	Brock I...Maitland A	34747107	2021
17	Connecting brain and body: Transdiagnostic relevance of connective tissue variants to neuropsychiatric symptom expression. ⁶²	Sharp HEC...Eccles JA	34733643	2021
18	Anti-nuclear antibody testing in children: How much is really necessary? ⁶²	Haslak F...Kasapcopur O	33411356	2021
19	Snapping Hamstring Tendons Case Report: Tenotomy and Tendon Transposition. ⁶²	Patel N...Tucker BS	34473653	2021
20	The evaluation of nailfold capillaroscopy pattern in patients with fibromyalgia. ⁶²	Coskun Benlidayi I...Sariyildiz A	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	Bates AV...Alexander CM	34412618	2021
22	Perioperative outcomes following pelvic floor reconstruction in women with hereditary disorders of connective tissue: a retrospective cohort study. ⁶²	Davidson ERW...Gutman RE	34213599	2021
23	Impact of joint hypermobility syndrome on gastric accommodation and nutrient tolerance in functional dyspepsia. ⁶²	Carbone F...Tack J	33528850	2021
24	Achenbach's hand and digital paroxysmal haematomas: a possible association with joint hypermobility syndrome in two sibling cases. ⁶²	Anthony Clive Chate R	34422277	2021
25	Chronic Low Back Pain Occurring in Association With Hypermobility Spectrum Disorder and Ehlers-Danlos Syndrome. ⁶²	Eseonu KC...Panchmatia JR	33963027	2021
26	Impact of heritable disorders of connective tissue on daily life of children: Parent perspectives. ⁶²	Wesley A...Pacey V	33244831	2021
27	Practical management strategies for benign hypermobility syndromes. ⁶²	Minhas D	33741806	2021
28	Prevalence of celiac disease in children with joint hypermobility. ⁶²	Sag E...Cakir M	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	Ramirez-Paesano C...Rodiera Olive J	33849631	2021
30	Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study. ⁶²	Bennett SE...Palmer S	31318301	2021
31	Do Plantar Pressure and Loading Patterns Vary with Joint Hypermobility in Young Females? ⁶²	Torgutalp SS...Korkusuz F	32701151	2021
32	Finger orthoses for management of joint hypermobility disorders: Relative effects on hand function and cognitive load. ⁶²	Jensen AM...Ramstrand N	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	Luder G...Verra ML	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	Eccles JA...Davies KA	33479068	2021
35	Adaptation of balance reactions following forward perturbations in people with joint hypermobility syndrome. ⁶²	Bates AV...Alexander CM	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	Kindgren E...Knez R	33603376	2021
37	Psychosocial and Motor Characteristics of Patients With Hypermobility. ⁶²	Lamari MM...Pavarino EC	35418881	2021
38	Association between Postural Orthostatic Tachycardia Syndrome and Joint Hypermobility. ⁶²	Atuesta-Rodriguez AJ...Rondon-Herrera F	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	Bebeshko VG...Vasylenko VV	33361848	2020
40	The effects of joint hypermobility syndrome on the kinematics and kinetics of the vertical jump test. ⁶²	Alsiri N...Palmer S	33080434	2020
41	Joint Hypermobility Syndrome in Patients With Functional Dyspepsia. ⁶²	Carbone F...Tack J	33259162	2020
42	[Joint hypermobility syndrome]. ⁶²	Carbonell-Bobadilla N...Rodriguez-Romo R	34020527	2020
43	Surgical Management of Shoulder and Knee Instability in Patients with Ehlers-Danlos Syndrome: Joint Hypermobility Syndrome. ⁶²	Homere A...Hatch GF	32904109	2020
44	Gait biomechanics in joint hypermobility syndrome: a spatiotemporal, kinematic and kinetic analysis. ⁶²	Alsiri N...Palmer S	32086882	2020
45	Response to "Quantitative measures of tissue mechanics to detect hypermobile Ehlers Danlos syndrome and hypermobility syndrome disorders: a systematic review". ⁶²	Palmer S...Young G	32488770	2020
46	Comment on "Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review". ⁶²	Grahame R...Henderson F	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	Molander P...Gerdle B	32645981	2020
48	Prevalence of generalized joint hypermobility in children with anxiety disorders. ⁶²	Javadi Parvaneh V...Shiari R	32487116	2020
49	Clinical management of benign joint hypermobility syndrome: a case series. ⁶²	Boudreau PA...Mior S	32476667	2020
50	Correlation between benign joint hypermobility syndrome and primary focal hyperhidrosis in children: a novel concept. ⁶²	Parvaneh VJ...Abdollahimajd F	32331513	2020

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Genes for Hypermobility Syndrome

Genes related to Hypermobility Syndrome (0 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TNXB	Tenascin XB	Protein Coding	23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15708907 16601453
2	FKBP14	FKBP Prolyl Isomerase 14	Protein Coding	6.48	DISEASES inferred ¹⁴
3	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	6.38	DISEASES inferred ¹⁴
4	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	5.92	DISEASES inferred ¹⁴
5	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	5.87	DISEASES inferred ¹⁴
6	NRK	Nik Related Kinase	Protein Coding	5.84	DISEASES inferred ¹⁴
7	PEPD	Peptidase D	Protein Coding	5.68	DISEASES inferred ¹⁴
8	SLC39A13	Solute Carrier Family 39 Member 13	Protein Coding	5.61	DISEASES inferred ¹⁴
9	CHST14	Carbohydrate Sulfotransferase 14	Protein Coding	5.58	DISEASES inferred ¹⁴
10	PLOD1	Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1	Protein Coding	5.54	DISEASES inferred ¹⁴
11	FBN1	Fibrillin 1	Protein Coding	5.4	DISEASES inferred ¹⁴
12	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	5.38	DISEASES inferred ¹⁴
13	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	5.38	DISEASES inferred ¹⁴
14	B4GALT7	Beta-1,4-Galactosyltransferase 7	Protein Coding	5.37	DISEASES inferred ¹⁴
15	PCDHB16	Protocadherin Beta 16	Protein Coding	5.29	DISEASES inferred ¹⁴
16	CAPN14	Calpain 14	Protein Coding	5.29	DISEASES inferred ¹⁴
17	LZTS1	Leucine Zipper Tumor Suppressor 1	Protein Coding	5.28	DISEASES inferred ¹⁴

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Variations for Hypermobility Syndrome

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Expression for Hypermobility Syndrome

Search GEO for disease gene expression data for Hypermobility Syndrome.

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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	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.25	FBN1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
2	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	12.93	FBN1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
3	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	12.81	TNXB COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
4	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.7	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
5	Collagen chain trimerization ⁶⁶ Show member pathways Anchoring fibril formation ⁶⁶ Assembly of collagen fibrils and other multimeric structures ⁶⁶ Blood Coagulation Cascade ⁶⁴ Collagen biosynthesis and modifying enzymes ⁶⁶ Collagen degradation ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴	12.64	PLOD1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
6	MET promotes cell motility ⁶⁶ Show member pathways Beta1 integrin cell surface interactions ⁶¹ MET activates PTK2 signaling ⁶⁶ MET activates RAP1 and RAC1 ⁶⁶ MET activates RAS signaling ⁶⁶ MET interacts with TNS proteins ⁶⁶ MET Receptor Activation ⁶⁶ MET receptor recycling ⁶⁶ Signaling by MET ⁶⁶	12.25	FBN1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
7	Focal adhesion ⁷⁴	12.16	TNXB COL5A2 COL1A2 COL1A1
8	Non-integrin membrane-ECM interactions ⁶⁶ Show member pathways Alpha6 beta4 integrin-ligand interactions ⁶¹ Cell adhesion Endothelial cell contacts by non-junctional mechanisms ²² Laminin interactions ⁶⁶ Syndecan interactions ⁶⁶	12.02	COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
9	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁶	11.93	COL3A1 COL1A2 COL1A1
10	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	11.92	TNXB PLOD1 FBN1 COL5A2 COL5A1 COL3A1
11	NCAM signaling for neurite out-growth ⁶⁶ Show member pathways NCAM1 interactions ⁶⁶	11.81	COL5A2 COL5A1 COL3A1
12	Binding and Uptake of Ligands by Scavenger Receptors ⁶⁶ Show member pathways Scavenging by Class A Receptors ⁶⁶ Scavenging by Class B Receptors ⁶⁶ Scavenging by Class F Receptors ⁶⁶ Scavenging by Class H Receptors ⁶⁶ Scavenging of heme from plasma ⁶⁶	11.74	COL3A1 COL1A2 COL1A1
13	ECM proteoglycans ⁶⁶ Show member pathways Integrin cell surface interactions ⁶⁶ MED and pseudoachondroplasia genes ⁷⁴	11.72	TNXB FBN1 COL5A2 COL5A1 COL3A1 COL1A2
14	Signaling by PDGF ⁶⁶ Show member pathways Downstream signal transduction ⁶⁶	11.71	COL5A2 COL5A1 COL3A1
15	Burn wound healing ⁷⁴	11.64	FBN1 COL1A2 COL1A1
16	Cell adhesion_ECM remodeling ²²	11.54	COL3A1 COL1A2 COL1A1
17	Integrins in angiogenesis ⁶¹	11.48	COL1A1 COL1A2 COL3A1 COL5A1 COL5A2
18	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.43	COL3A1 COL1A2 COL1A1
19	Beta3 integrin cell surface interactions ⁶¹	11.3	FBN1 COL1A2 COL1A1
20	miRNA targets in ECM and membrane receptors ⁷⁴	11.23	TNXB COL5A2 COL5A1 COL3A1 COL1A2
21	Inflammatory response pathway ⁷⁴	11.2	COL1A1 COL1A2 COL3A1
22	Type I collagen synthesis in the context of osteogenesis imperfecta ⁷⁴	11.19	COL1A1 COL1A2 PLOD1
23	Endothelins ⁶¹	11.15	COL3A1 COL1A2
24	Angiotensin II receptor type 1 pathway ⁷⁴	11.09	COL1A2 COL1A1
25	Platelet Adhesion to exposed collagen ⁶⁶ Show member pathways GP1b-IX-V activation signalling ⁶⁶	11.07	COL1A2 COL1A1
26	Syndecan-1-mediated signaling events ⁶¹	11.03	COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
27	VEGFR3 signaling in lymphatic endothelium ⁶¹	11.01	COL1A2 COL1A1
28	Proteoglycan biosynthesis ⁷⁴	10.87	CHST14 B4GALT7
29	G-protein signaling_Rap2B regulation pathway ²²	10.86	FBN1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
30	miR-509-3p alteration of YAP1/ECM axis ⁷⁴	10.84	COL5A1 COL3A1 COL1A1

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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

Sources for Hypermobility Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: HYP007 MIFTS: 38	Hypermobility Syndrome Categories: Bone diseases	Data Licensing For inquiries, contact: [email protected]
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