HEDS
MCID: HYP706
MIFTS: 43

Hypermobile Ehlers-Danlos Syndrome (HEDS)

Categories: Rare diseases

Aliases & Classifications for Hypermobile Ehlers-Danlos Syndrome

MalaCards integrated aliases for Hypermobile Ehlers-Danlos Syndrome:

Name: Hypermobile Ehlers-Danlos Syndrome 25 54
Joint Hypermobility 30 6
Heds 25 54
Ehlers-Danlos Syndrome, Hypermobility Type 54
Ehlers-Danlos Syndrome Hypermobility Type 25
Benign Joint Hypermobility Syndrome 25
Ehlers-Danlos Syndrome Type Iii 25
Joint Hypermobility Syndrome 25
Eds Hypermobility Type 25
Hypermobile Eds 54
Eds Type Iii 25

Characteristics:

GeneReviews:

25
Penetrance Penetrance is believed to be 100%, although expressivity is extremely variable, and careful examination may be required to demonstrate typical features, especially in adult men who have never experienced a major joint complication or significant pain...

Classifications:



Summaries for Hypermobile Ehlers-Danlos Syndrome

NIH Rare Diseases : 54 Hypermobile Ehlers-Danlos syndrome is an inheritedconnective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe form of Ehlers-Danlos syndrome (EDS) although significant complications can occur. Common symptoms include joint hypermobility, affecting both large (elbows, knees) and small (fingers, toes) joints; soft, smooth skin that may be slightly elastic (stretchy) and bruises easily; and chronic musculoskeletal (muscles and bones) pain. Although hypermobile EDS is thought to be a genetic condition, the exact underlying cause is unknown in most cases. A small percentage of people with this condition have a change (mutation) in the TNXB gene. Most cases of hypermobile EDS, are inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

MalaCards based summary : Hypermobile Ehlers-Danlos Syndrome, also known as joint hypermobility, is related to ehlers-danlos syndrome and orthostatic intolerance. An important gene associated with Hypermobile Ehlers-Danlos Syndrome is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drugs Progesterone and Isoproterenol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and testes, and related phenotypes are cardiovascular system and behavior/neurological

GeneReviews: NBK1279

Related Diseases for Hypermobile Ehlers-Danlos Syndrome

Diseases related to Hypermobile Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 31.1 COL1A1 FKBP14 PLOD1
2 orthostatic intolerance 30.3 FBN1 PLOD1
3 scoliosis 29.9 COL1A1 FBN1 PLOD1
4 connective tissue disease 29.5 COL1A1 FBN1 PLOD1
5 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 12.1
6 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.8
7 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.8
8 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.3
9 cutis laxa, autosomal recessive, type iiia 11.3
10 ectodermal dysplasia and immunodeficiency 1 11.3
11 ehlers-danlos syndrome, classic-like 11.2
12 ehlers-danlos syndrome, dermatosparaxis type 11.2
13 ehlers-danlos syndrome, musculocontractural type, 1 11.2
14 ehlers-danlos syndrome, kyphoscoliotic type, 2 11.2
15 ectodermal dysplasia 1, hypohidrotic, x-linked 11.1
16 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.1
17 ehlers-danlos syndrome, classic type, 1 11.0
18 ehlers-danlos syndrome, classic type, 2 11.0
19 ehlers-danlos syndrome, periodontal type, 1 11.0
20 joint laxity, familial 11.0
21 shprintzen-goldberg craniosynostosis syndrome 11.0
22 ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality 11.0
23 ehlers-danlos syndrome, cardiac valvular type 11.0
24 oculopalatocerebral syndrome 11.0
25 three m syndrome 1 11.0
26 meester-loeys syndrome 11.0
27 lowe oculocerebrorenal syndrome 11.0
28 mass syndrome 11.0
29 neuropathy, hereditary, with or without age-related macular degeneration 11.0
30 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 11.0
31 arthrochalasia ehlers-danlos syndrome 11.0
32 kyphoscoliotic ehlers-danlos syndrome 11.0
33 typical congenital nemaline myopathy 11.0
34 clouston syndrome 11.0
35 ectodermal dysplasia and immunodeficiency 2 11.0
36 hypohidrotic ectodermal dysplasia autosomal recessive 11.0
37 hypohidrotic ectodermal dysplasia with immunodeficiency 11.0
38 pain - chronic 10.6
39 ectodermal dysplasia 10.6
40 ehlers-danlos syndrome, hypermobility type 10.3
41 marfan syndrome 10.3
42 hypermobility syndrome 10.3
43 gingivitis 10.3
44 osteoarthritis 10.3
45 anxiety 10.3
46 erythermalgia, primary 10.3
47 down syndrome 10.3
48 celiac disease 1 10.3
49 postural orthostatic tachycardia syndrome 10.3
50 obsessive-compulsive personality disorder 10.3

Graphical network of the top 20 diseases related to Hypermobile Ehlers-Danlos Syndrome:



Diseases related to Hypermobile Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Hypermobile Ehlers-Danlos Syndrome

MGI Mouse Phenotypes related to Hypermobile Ehlers-Danlos Syndrome:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.04 ARID1B COL1A1 FBN1 ILK PLOD1 RET
2 behavior/neurological MP:0005386 9.99 ARID1B COL1A1 FBN1 ILK PLOD1 RET
3 growth/size/body region MP:0005378 9.91 ARID1B COL1A1 FBN1 ILK RET SNAI1
4 mortality/aging MP:0010768 9.91 ARID1B COL1A1 FBN1 ILK PLOD1 RET
5 embryo MP:0005380 9.85 COL1A1 FBN1 ILK RET SNAI1
6 muscle MP:0005369 9.8 ARID1B COL1A1 FBN1 ILK PLOD1 RET
7 craniofacial MP:0005382 9.78 COL1A1 FBN1 ILK SNAI1
8 no phenotypic analysis MP:0003012 9.65 COL1A1 FBN1 ILK PLOD1 RET
9 limbs/digits/tail MP:0005371 9.58 COL1A1 FBN1 RET
10 renal/urinary system MP:0005367 9.35 ARID1B COL1A1 FBN1 ILK RET
11 pigmentation MP:0001186 9.33 COL1A1 FBN1 ILK
12 skeleton MP:0005390 9.02 COL1A1 FBN1 ILK PLOD1 SNAI1

Drugs & Therapeutics for Hypermobile Ehlers-Danlos Syndrome

Drugs for Hypermobile Ehlers-Danlos Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved 57-83-0 5994
2
Isoproterenol Approved, Investigational 7683-59-2 3779
3
Phenylephrine Approved 59-42-7 6041
4
Ephedrine Approved 299-42-3 9294
5
Pseudoephedrine Approved 90-82-4 7028
6
Oxymetazoline Approved, Investigational 1491-59-4 4636
7 Estrogens
8 Nutrients Not Applicable
9 Vasoconstrictor Agents
10 Adrenergic Agonists
11 Anti-Asthmatic Agents
12 Autonomic Agents
13 Nasal Decongestants
14 Neurotransmitter Agents
15 Sympathomimetics
16 Mydriatics
17 Immunoglobulins
18 Adrenergic beta-Agonists
19 Peripheral Nervous System Agents
20 Protective Agents
21 Adrenergic alpha-Agonists
22 Antibodies
23 Cardiotonic Agents
24 Bronchodilator Agents
25 Adrenergic Agents
26 Respiratory System Agents

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Spinal Stabilization Exercise Effects in Hypermobility Completed NCT02869373 Phase 2
2 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Unknown status NCT02854098
3 The Effect of Estrogen and Progesterone Levels on Knee and Ankle Joint Laxity Unknown status NCT00005923
4 Effects of Talocrural Joint Mobilizations in the Treatment of Subacute Lateral Ankle Sprains Unknown status NCT01117909 Not Applicable
5 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
6 Follow up of Patients Operated With Anterior Cruciate Ligament Reconstruction Unknown status NCT01279759
7 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life Completed NCT01367977
8 A Study to Assess Benign Joint Hypermobility Syndrome in Children With a History of Wheezing or Asthma Completed NCT02163096
9 Association Between Hypermobility and Chronic Musculoskeletal Pain Completed NCT01032863
10 Gait in Children With Down Syndrome While Wearing Orthoses Completed NCT01598350 Not Applicable
11 Resistance Training for Patients With Hypermobility Spectrum Disorders and Shoulder Symptoms: a Feasibility Study Completed NCT03547570 Not Applicable
12 Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome Completed NCT02712060
13 Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome Completed NCT02435745
14 Patient Education Program and Ehlers-Danlos Syndrome Completed NCT02817490
15 Comparative Study Between Two Physiotherapy Protocols Conventional X Accelerated in Individuals Undergoing Reconstruction of the Anterior Cruciate Ligament. Completed NCT01821599 Not Applicable
16 The Natural History of Congenital Trigger Thumbs Completed NCT01424995
17 Comparison of Joint Mobility Levels and Performance in Young Male Basketball Players and Sedentary Peers Completed NCT03825003
18 Electrothermal Arthroscopic Capsulorrhaphy (ETAC) and Open Inferior Capsular Shift in Patients With Shoulder Instability Completed NCT00251160 Not Applicable
19 Pelvic Floor Muscle Training (PFMT) in Treatment and Prevention of POP (POP Study) Completed NCT00271297 Not Applicable
20 Prevalence of FODMAP Intolerance and JHS in FGID and Association With Microbiome, Dyssynergic Defecation and Dietary Intervention Recruiting NCT03460613 Not Applicable
21 Genetics of Ehlers-Danlos Syndrome Recruiting NCT03093493
22 Shoulder Exercises in Hypermobile Patients With Shoulder Symptoms Recruiting NCT03869307 Not Applicable
23 Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Recruiting NCT02144532 Not Applicable
24 ATTUNE® Revision- Complex Primary in Total Knee Arthroplasty Population Recruiting NCT03153449 Not Applicable
25 MR in Patients With Collagen VI Related Myopathies Recruiting NCT03693898 Not Applicable
26 Lower Extremity Alignment and Dynamic Control With Associated Injury Risk in College Athletes With Knee Hyperextension Recruiting NCT03425968
27 Fixed Versus Adjustable Loop in ACL Reconstruction Recruiting NCT03184922 Not Applicable
28 POTS Adrenergic Ab (CIHR Aims #1&2) Recruiting NCT02673996 Phenylephrine;Isoproterenol
29 Comparison of Exercise Therapies for Patellofemoral Pain Recruiting NCT03069547 Not Applicable
30 Standing Cognition and Co-morbidities of POTS Evaluation Active, not recruiting NCT03602482 Not Applicable
31 Clinical Evaluation of dCELL® ACL Scaffold for Reconstruction of the Anterior Cruciate Ligament Active, not recruiting NCT02540811 Not Applicable
32 Multisegmented Foot Motion in Patients With Lateral Ankle Sprains and Chronic Ankle Instability Active, not recruiting NCT02697461 Not Applicable
33 Initial Graft Tension and ACL Surgery Active, not recruiting NCT00434837 Not Applicable
34 Origins and Impact of EDS in Connective Tissues and Skin Enrolling by invitation NCT02721797
35 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Not yet recruiting NCT03575182 Not Applicable
36 Agreement Between Clinician and Instrumented Laxity Assessment Not yet recruiting NCT03309098
37 The Effect of Balance Training on Unloading Reaction in Individuals With Functional Ankle Instability Withdrawn NCT00703456 Not Applicable
38 OrthoPure™ XT Pilot Clinical Study Withdrawn NCT03562299 Not Applicable

Search NIH Clinical Center for Hypermobile Ehlers-Danlos Syndrome

Genetic Tests for Hypermobile Ehlers-Danlos Syndrome

Genetic tests related to Hypermobile Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Joint Hypermobility 30

Anatomical Context for Hypermobile Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Hypermobile Ehlers-Danlos Syndrome:

42
Skin, Bone, Testes, Lung, Brain

Publications for Hypermobile Ehlers-Danlos Syndrome

Articles related to Hypermobile Ehlers-Danlos Syndrome:

(show top 50) (show all 263)
# Title Authors Year
1
Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India. ( 30858956 )
2019
2
Inspiratory muscle strength training improves lung function in patients with the hypermobile Ehlers-Danlos syndrome: A randomized controlled trial. ( 30569502 )
2019
3
Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders. ( 30703284 )
2019
4
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients. ( 30783660 )
2019
5
Prevalence of Obstructive Sleep Apnea in Joint Hypermobility Syndrome: A Systematic Review and Meta-Analysis. ( 30736885 )
2019
6
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. ( 30793827 )
2019
7
Joint Hypermobility Syndrome Affects Response to a Low Fermentable Oligosaccharide, Disaccharide, Monosaccharide and Polyol Diet in Irritable Bowel Syndrome Patients: A Retrospective Study. ( 30834032 )
2019
8
Joint Hypermobility Among Female Patients Presenting with Chronic Myofascial Pelvic Pain. ( 30729750 )
2019
9
Characterizing adolescents with heavy menstrual bleeding and generalized joint hypermobility. ( 30803134 )
2019
10
Generalised joint hypermobility and knee joint hypermobility: prevalence, knee joint symptoms and health-related quality of life in a Danish adult population. ( 29076645 )
2019
11
The effectiveness of a multidisciplinary intervention strategy for the treatment of symptomatic joint hypermobility in childhood: a randomised, single Centre parallel group trial (The Bendy Study). ( 30621718 )
2019
12
Hypermobile Ehlers-Danlos syndrome and rehabilitation: taking stock of evidence based medicine: a systematic review of the literature. ( 29950777 )
2018
13
Dermal fibroblast-to-myofibroblast transition sustained by I+vA93 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders. ( 29309923 )
2018
14
Low- and high-anxious hypermobile Ehlers-Danlos syndrome patients: comparison of psychosocial and health variables. ( 29497845 )
2018
15
Joint Hypermobility Classes in 9-Year-Old Children from the General Population and Anxiety Symptoms. ( 29847358 )
2018
16
Autism, Joint Hypermobility-Related Disorders and Pain. ( 30581396 )
2018
17
A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility. ( 29562607 )
2018
18
Higher prevalence of joint hypermobility in constipation predominant irritable bowel syndrome. ( 29687534 )
2018
19
Exploring relationships between joint hypermobility and neurodevelopment in children (4-13 years) with hereditary connective tissue disorders and developmental coordination disorder. ( 30070022 )
2018
20
Application of immunotherapy for neurological manifestations in hypermobile Ehlers-Danlos syndrome. ( 30147750 )
2018
21
Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome. ( 30151001 )
2018
22
Hypermobile Ehlers-Danlos syndrome and pregnancy. ( 30214474 )
2018
23
Ehlers-Danlos Syndrome: Not Just Joint Hypermobility. ( 30228818 )
2018
24
Prevalence and frequency of self-perceived systemic features in people with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 30232714 )
2018
25
Comment on: The multisystemic nature and natural history of joint hypermobility syndrome and Ehlers-Danlos syndrome in children. ( 30239925 )
2018
26
Comment on: The multisystemic nature and natural history of joint hypermobility syndrome and Ehlers-Danlos syndrome in children: reply. ( 30239979 )
2018
27
Physical and mechanical therapies for lower limb symptoms in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome: a systematic review. ( 30455744 )
2018
28
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder. ( 30471081 )
2018
29
Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders. ( 30063091 )
2018
30
Hypermobile Ehlers Danlos Syndrome. ( 30063214 )
2018
31
Interdisciplinary Pain Management Improves Pain and Function in Pediatric Patients with Chronic Pain Associated with Joint Hypermobility Syndrome. ( 30010052 )
2018
32
Are People With Joint Hypermobility Syndrome Slow to Strengthen? ( 30599140 )
2018
33
Concurrent Joint Hypermobility Syndrome and Spondyloarthropathy: A New Spondyloarthropathy Subgroup With a Less Severe Disease Phenotype? ( 30601197 )
2018
34
Lack of joint hypermobility increases the risk of surgery in adolescent idiopathic scoliosis. ( 28777161 )
2018
35
Relationship of Joint Hypermobility with Ankle and Foot Radiographic Osteoarthritis and Symptoms in a Community-Based Cohort. ( 29953742 )
2018
36
Association between general joint hypermobility and knee, hip, and lumbar spine osteoarthritis by race: a cross-sectional study. ( 29669593 )
2018
37
Is femoral trochlear dysplasia related to global joint hypermobility? ( 30396703 )
2018
38
The relationship between joint hypermobility and subacromial impingement syndrome and adhesive capsulitis of the shoulder. ( 30688930 )
2018
39
Passive anterior tibial translation in women with and without joint hypermobility: an exploratory study. ( 27456472 )
2018
40
Frequency of joint hypermobility in Turkish patients with knee osteoarthritis: a cross sectional multicenter study. ( 27463535 )
2018
41
Joint hypermobility is also associated with anxiety disorders in the elderly population. ( 28543732 )
2018
42
Functional Gastrointestinal Disorders and Joint Hypermobility: A School-based Study. ( 28837511 )
2018
43
Development and validation of self-reported line drawings of the modified Beighton score for the assessment of generalised joint hypermobility. ( 29343224 )
2018
44
Evaluation of the Efficacy of Different Concentrations of Dextrose Prolotherapy in Temporomandibular Joint Hypermobility Treatment. ( 29533255 )
2018
45
A possible connection between childhood pain, joint hypermobility and Neurodevelopmental disorders. ( 29637603 )
2018
46
Sensorimotor control and neuromuscular activity of the shoulder in adolescent competitive swimmers with generalized joint hypermobility. ( 29775909 )
2018
47
No Effect of Generalized Joint Hypermobility on Injury Risk in Elite Female Soccer Players: Letter to the Editor. ( 29847172 )
2018
48
No Effect of Generalized Joint Hypermobility on Injury Risk in Elite Female Soccer Players: Response. ( 29847173 )
2018
49
A novel and simple classification for ligamentum teres pathology based on joint hypermobility. ( 29876126 )
2018
50
Spectrum of Gastrointestinal Manifestations in Joint Hypermobility Syndromes. ( 29891041 )
2018

Variations for Hypermobile Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Hypermobile Ehlers-Danlos Syndrome:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
2 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
3 FBN1 NM_000138.4(FBN1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs762400500 GRCh38 Chromosome 15, 48644631: 48644631
4 FBN1 NM_000138.4(FBN1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs762400500 GRCh37 Chromosome 15, 48936828: 48936828
5 ARID1B NM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter) single nucleotide variant Pathogenic rs797045283 GRCh38 Chromosome 6, 157207109: 157207109
6 ARID1B NM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter) single nucleotide variant Pathogenic rs797045283 GRCh37 Chromosome 6, 157528243: 157528243
7 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
8 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh38 Chromosome 10, 43121968: 43121968
9 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
10 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh38 Chromosome 17, 50196337: 50196337
11 46;XY;t(7;13)(p15.3;q14.1)dn Translocation Pathogenic
12 46;XX;t(17;18)(p13;p11.2)dn Translocation Uncertain significance
13 46;XX;inv(7)(q11.23q36.3)dn inversion Pathogenic
14 46;XY;inv(7)(p15q34)mat inversion Likely pathogenic
15 46;XY;t(2;10)(p25;q26)dn Translocation Pathogenic
16 46;XX;t(7;14)(p15;q24)dn Translocation Uncertain significance
17 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic/Likely pathogenic rs542489955 GRCh37 Chromosome 7, 30058727: 30058727
18 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic/Likely pathogenic rs542489955 GRCh38 Chromosome 7, 30019111: 30019111
19 ZNF469 NM_001127464.2(ZNF469): c.470G> A (p.Gly157Glu) single nucleotide variant Uncertain significance rs781096189 GRCh38 Chromosome 16, 88427940: 88427940
20 ZNF469 NM_001127464.2(ZNF469): c.470G> A (p.Gly157Glu) single nucleotide variant Uncertain significance rs781096189 GRCh37 Chromosome 16, 88494348: 88494348
21 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh37 Chromosome 1, 12025628: 12025628
22 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh38 Chromosome 1, 11965571: 11965571
23 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh37 Chromosome 9, 137690258: 137690258
24 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh38 Chromosome 9, 134798412: 134798412
25 GRIN2B NM_000834.4(GRIN2B): c.2002G> A (p.Asp668Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs876661151 GRCh38 Chromosome 12, 13608611: 13608611
26 GRIN2B NM_000834.4(GRIN2B): c.2002G> A (p.Asp668Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs876661151 GRCh37 Chromosome 12, 13761545: 13761545
27 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh37 Chromosome 15, 48826296: 48826299
28 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh38 Chromosome 15, 48534099: 48534102
29 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh37 Chromosome X, 152037592: 152037592
30 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh38 Chromosome X, 152869048: 152869048
31 DCHS1 NM_003737.4(DCHS1): c.379G> A (p.Val127Ile) single nucleotide variant Likely benign rs112402535 GRCh37 Chromosome 11, 6662466: 6662466
32 DCHS1 NM_003737.4(DCHS1): c.379G> A (p.Val127Ile) single nucleotide variant Likely benign rs112402535 GRCh38 Chromosome 11, 6641235: 6641235
33 COL5A2 NM_000393.4(COL5A2): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic rs1553517323 GRCh37 Chromosome 2, 189949930: 189949930
34 COL5A2 NM_000393.4(COL5A2): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic rs1553517323 GRCh38 Chromosome 2, 189085204: 189085204
35 COL5A1 NM_000093.4(COL5A1): c.5150_5158delACGCCGAGG (p.Asp1717_Glu1719del) deletion Likely pathogenic rs1554726245 GRCh37 Chromosome 9, 137726830: 137726838
36 COL5A1 NM_000093.4(COL5A1): c.5150_5158delACGCCGAGG (p.Asp1717_Glu1719del) deletion Likely pathogenic rs1554726245 GRCh38 Chromosome 9, 134834984: 134834992
37 COL4A2 NM_001846.3(COL4A2): c.551G> A (p.Gly184Asp) single nucleotide variant Uncertain significance rs1555328401 GRCh38 Chromosome 13, 110430402: 110430402
38 COL4A2 NM_001846.3(COL4A2): c.551G> A (p.Gly184Asp) single nucleotide variant Uncertain significance rs1555328401 GRCh37 Chromosome 13, 111082749: 111082749
39 ZNF469 NM_001127464.2(ZNF469): c.2569A> G (p.Asn857Asp) single nucleotide variant Uncertain significance rs1555518955 GRCh37 Chromosome 16, 88496447: 88496447
40 ZNF469 NM_001127464.2(ZNF469): c.2569A> G (p.Asn857Asp) single nucleotide variant Uncertain significance rs1555518955 GRCh38 Chromosome 16, 88430039: 88430039
41 ZNF469 NM_001127464.2(ZNF469): c.9448G> A (p.Gly3150Ser) single nucleotide variant Uncertain significance rs887755283 GRCh38 Chromosome 16, 88437002: 88437002
42 ZNF469 NM_001127464.2(ZNF469): c.9448G> A (p.Gly3150Ser) single nucleotide variant Uncertain significance rs887755283 GRCh37 Chromosome 16, 88503410: 88503410
43 COL1A1 NM_000088.3(COL1A1): c.3168delC (p.Val1057Leufs) deletion Pathogenic rs1555572254 GRCh38 Chromosome 17, 50188569: 50188569
44 COL1A1 NM_000088.3(COL1A1): c.3168delC (p.Val1057Leufs) deletion Pathogenic rs1555572254 GRCh37 Chromosome 17, 48265930: 48265930
45 PLOD1 GRCh37/hg19 1p36.22(chr1: 12019879-12028775) copy number gain Pathogenic GRCh37 Chromosome 1, 12019879: 12028775
46 PLOD1 GRCh37/hg19 1p36.22(chr1: 12019879-12028775) copy number gain Pathogenic GRCh37 Chromosome 1, 12019879: 12028775
47 PLOD1 GRCh37/hg19 1p36.22(chr1: 12019879-12028775) copy number gain Pathogenic GRCh37 Chromosome 1, 12019879: 12028775
48 DCHS1 NM_003737.4(DCHS1): c.1679C> T (p.Ser560Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 6661166: 6661166
49 DCHS1 NM_003737.4(DCHS1): c.1679C> T (p.Ser560Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 6639935: 6639935
50 DCHS1 NM_003737.4(DCHS1): c.877G> A (p.Glu293Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 6661968: 6661968

Expression for Hypermobile Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Hypermobile Ehlers-Danlos Syndrome.

Pathways for Hypermobile Ehlers-Danlos Syndrome

GO Terms for Hypermobile Ehlers-Danlos Syndrome

Cellular components related to Hypermobile Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.8 COL1A1 FBN1 FKBP14

Biological processes related to Hypermobile Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of canonical Wnt signaling pathway GO:0090263 9.4 COL1A1 ILK
2 cellular response to retinoic acid GO:0071300 9.37 COL1A1 RET
3 cellular response to transforming growth factor beta stimulus GO:0071560 9.32 COL1A1 FBN1
4 collagen fibril organization GO:0030199 9.26 COL1A1 PLOD1
5 positive regulation of transcription, DNA-templated GO:0045893 9.26 COL1A1 ILK RET SNAI1
6 positive regulation of epithelial to mesenchymal transition GO:0010718 9.16 COL1A1 SNAI1
7 positive regulation of cell migration GO:0030335 8.92 COL1A1 ILK RET SNAI1

Sources for Hypermobile Ehlers-Danlos Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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34 ICD10
35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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