HEDS
MCID: HYP706
MIFTS: 53

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 24 52
Joint Hypermobility 29 6
Heds 24 52
Ehlers-Danlos Syndrome, Hypermobility Type 52
Ehlers-Danlos Syndrome Hypermobility Type 24
Benign Joint Hypermobility Syndrome 24
Ehlers-Danlos Syndrome Type Iii 24
Joint Hypermobility Syndrome 24
Eds Hypermobility Type 24
Hypermobile Eds 52
Eds Type Iii 24

Characteristics:

GeneReviews:

24
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 : 52 Hypermobile Ehlers-Danlos syndrome is an inherited connective 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 (muscle and bone) pain. While hypermobile EDS is regarded as a genetic condition, the genetic cause is unknown as the gene (s) responsible have not been identified. Inheritance is autosomal dominant . 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 kyphoscoliotic ehlers-danlos syndrome and classic ehlers-danlos syndrome. An important gene associated with Hypermobile Ehlers-Danlos Syndrome is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways are Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases and Degradation of the extracellular matrix. The drugs Methylprednisolone and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are sleep disturbance and fatigue

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 288)
# Related Disease Score Top Affiliating Genes
1 kyphoscoliotic ehlers-danlos syndrome 31.4 PLOD1 FKBP14
2 classic ehlers-danlos syndrome 30.7 TNXB COL1A1
3 hypermobility syndrome 30.7 TNXB FKBP14 COL1A1
4 postural orthostatic tachycardia syndrome 30.6 FKBP14 FBN1
5 pelvic organ prolapse 30.4 TNXB COL1A1
6 orthostatic intolerance 29.9 TNXB PLOD1 FBN1
7 brittle bone disorder 29.7 PLOD1 FBN1 COL1A1
8 ehlers-danlos syndrome 29.7 TNXB PLOD1 FKBP14 FBN1 COL1A1
9 inguinal hernia 29.6 FBN1 EFEMP1 COL1A1
10 hypertelorism 29.2 RET COL1A1
11 collagen disease 29.0 TNXB PLOD1 FBN1 COL1A1
12 connective tissue disease 28.6 TNXB PLOD1 FBN1 COL1A1
13 scoliosis 28.0 PLOD1 FKBP14 FBN1 EFEMP1 COL1A1
14 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 12.3
15 ehlers-danlos syndrome, hypermobility type 12.0
16 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.9
17 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.9
18 ectodermal dysplasia and immunodeficiency 1 11.7
19 ectodermal dysplasia and immunodeficiency 2 11.5
20 hypohidrotic ectodermal dysplasia with immunodeficiency 11.5
21 joint laxity, familial 11.5
22 clouston syndrome 11.5
23 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.4
24 cutis laxa, autosomal recessive, type iiia 11.4
25 ehlers-danlos syndrome, classic-like 11.4
26 ehlers-danlos syndrome, dermatosparaxis type 11.3
27 ehlers-danlos syndrome, musculocontractural type, 1 11.3
28 ehlers-danlos syndrome, kyphoscoliotic type, 2 11.3
29 arthrochalasia ehlers-danlos syndrome 11.3
30 ectodermal dysplasia 1, hypohidrotic, x-linked 11.2
31 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.2
32 ehlers-danlos syndrome, classic type, 1 11.2
33 ehlers-danlos syndrome, classic type, 2 11.2
34 ehlers-danlos syndrome, periodontal type, 1 11.2
35 mccune-albright syndrome 11.2
36 shprintzen-goldberg craniosynostosis syndrome 11.2
37 ehlers-danlos syndrome, cardiac valvular type 11.2
38 oculopalatocerebral syndrome 11.2
39 three m syndrome 1 11.2
40 meester-loeys syndrome 11.2
41 lowe oculocerebrorenal syndrome 11.2
42 cardiac valvular dysplasia, x-linked 11.2
43 neuropathy, hereditary, with or without age-related macular degeneration 11.2
44 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 11.2
45 hyper-ige recurrent infection syndrome 3, autosomal recessive 11.2
46 polymicrogyria with or without vascular-type ehlers-danlos syndrome 11.2
47 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 11.2
48 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 11.2
49 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 11.2
50 familial thoracic aortic aneurysm and dissection 11.2

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

Human phenotypes related to Hypermobile Ehlers-Danlos Syndrome:

31 (show top 50) (show all 51)
# Description HPO Frequency HPO Source Accession
1 sleep disturbance 31 hallmark (90%) HP:0002360
2 fatigue 31 hallmark (90%) HP:0012378
3 arthralgia 31 hallmark (90%) HP:0002829
4 acrocyanosis 31 hallmark (90%) HP:0001063
5 joint hyperflexibility 31 hallmark (90%) HP:0005692
6 wormian bones 31 hallmark (90%) HP:0002645
7 myalgia 31 hallmark (90%) HP:0003326
8 hip dislocation 31 hallmark (90%) HP:0002827
9 vertigo 31 hallmark (90%) HP:0002321
10 elbow dislocation 31 hallmark (90%) HP:0003042
11 hyperextensible skin 31 hallmark (90%) HP:0000974
12 osteoarthritis 31 frequent (33%) HP:0002758
13 nausea and vomiting 31 frequent (33%) HP:0002017
14 depressivity 31 frequent (33%) HP:0000716
15 constipation 31 frequent (33%) HP:0002019
16 pes planus 31 frequent (33%) HP:0001763
17 malabsorption 31 frequent (33%) HP:0002024
18 arrhythmia 31 frequent (33%) HP:0011675
19 thin skin 31 frequent (33%) HP:0000963
20 decreased nerve conduction velocity 31 frequent (33%) HP:0000762
21 migraine 31 frequent (33%) HP:0002076
22 soft skin 31 frequent (33%) HP:0000977
23 scoliosis 31 occasional (7.5%) HP:0002650
24 ptosis 31 occasional (7.5%) HP:0000508
25 inguinal hernia 31 occasional (7.5%) HP:0000023
26 gingival overgrowth 31 occasional (7.5%) HP:0000212
27 umbilical hernia 31 occasional (7.5%) HP:0001537
28 gastroesophageal reflux 31 occasional (7.5%) HP:0002020
29 subcutaneous nodule 31 occasional (7.5%) HP:0001482
30 aplasia/hypoplasia of the abdominal wall musculature 31 occasional (7.5%) HP:0010318
31 epicanthus 31 occasional (7.5%) HP:0000286
32 limitation of joint mobility 31 occasional (7.5%) HP:0001376
33 microdontia 31 occasional (7.5%) HP:0000691
34 gingivitis 31 occasional (7.5%) HP:0000230
35 osteolysis 31 occasional (7.5%) HP:0002797
36 atypical scarring of skin 31 occasional (7.5%) HP:0000987
37 arterial dissection 31 occasional (7.5%) HP:0005294
38 apnea 31 occasional (7.5%) HP:0002104
39 paresthesia 31 occasional (7.5%) HP:0003401
40 keratoconjunctivitis sicca 31 occasional (7.5%) HP:0001097
41 decreased fertility 31 occasional (7.5%) HP:0000144
42 anorectal anomaly 31 occasional (7.5%) HP:0012732
43 abnormality of the menstrual cycle 31 occasional (7.5%) HP:0000140
44 abnormal palate morphology 31 occasional (7.5%) HP:0000174
45 venous insufficiency 31 occasional (7.5%) HP:0005293
46 keratoconus 31 occasional (7.5%) HP:0000563
47 tendon rupture 31 occasional (7.5%) HP:0100550
48 abnormality of the wrist 31 occasional (7.5%) HP:0003019
49 gastrointestinal dysmotility 31 occasional (7.5%) HP:0002579
50 cystocele 31 occasional (7.5%) HP:0100645

MGI Mouse Phenotypes related to Hypermobile Ehlers-Danlos Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.15 ARID1B COL1A1 EFEMP1 FBN1 ILK PLOD1
2 behavior/neurological MP:0005386 10.05 ARID1B COL1A1 EFEMP1 FBN1 ILK PLOD1
3 mortality/aging MP:0010768 10.02 ARID1B COL1A1 EFEMP1 FBN1 ILK PLOD1
4 hematopoietic system MP:0005397 10 ARID1B COL1A1 EFEMP1 FBN1 ILK RET
5 immune system MP:0005387 9.98 ARID1B COL1A1 EFEMP1 FBN1 ILK RET
6 integument MP:0010771 9.95 ARID1B COL1A1 EFEMP1 FBN1 ILK PLOD1
7 digestive/alimentary MP:0005381 9.88 COL1A1 EFEMP1 ILK RET SNAI1
8 muscle MP:0005369 9.87 ARID1B COL1A1 EFEMP1 FBN1 ILK PLOD1
9 no phenotypic analysis MP:0003012 9.65 COL1A1 FBN1 ILK PLOD1 RET
10 pigmentation MP:0001186 9.46 COL1A1 EFEMP1 FBN1 ILK
11 renal/urinary system MP:0005367 9.43 ARID1B COL1A1 EFEMP1 FBN1 ILK RET
12 skeleton MP:0005390 9.23 ARID1B COL1A1 EFEMP1 FBN1 ILK PLOD1

Drugs & Therapeutics for Hypermobile Ehlers-Danlos Syndrome

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
2
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
3
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
4
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
5 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
6
Acyclovir Approved Phase 3 59277-89-3 2022
7
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
8 Hormones Phase 3
9 Antiemetics Phase 3
10 Methylprednisolone Acetate Phase 3
11 Neuroprotective Agents Phase 3
12 Gastrointestinal Agents Phase 3
13 Hormone Antagonists Phase 3
14 Anti-Inflammatory Agents Phase 3
15 Autonomic Agents Phase 3
16 Antineoplastic Agents, Hormonal Phase 3
17 Protective Agents Phase 3
18 glucocorticoids Phase 3
19 Anti-Infective Agents Phase 3
20 Antiviral Agents Phase 3
21 Nutrients
22 Immunologic Factors
23 Immunoglobulins
24 Antibodies

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Herpetic Eye Disease Study (HEDS) I Unknown status NCT00000138 Phase 3 Prednisolone Phosphate;Acyclovir
2 Herpetic Eye Disease Study (HEDS) II Completed NCT00000139 Phase 3 Acyclovir
3 Assistant Professor Completed NCT02869373 Phase 2
4 Effectiveness of Wearing a Compression Garment (SED CICATREX® Model) for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Unknown status NCT02144532
5 Genetic Differences Between Patients With Multiple Hernia and a Healthy Control Group Unknown status NCT00979095
6 Collagen-subtype Analysis in Subcutaneous Tissue and Genetic Analysis on Patients From Families With a Tendency to Hernias Unknown status NCT00991484
7 A Study to Assess Benign Joint Hypermobility Syndrome in Children With a History of Wheezing or Asthma Completed NCT02163096
8 A Study of Association Between Hypermobility And Chronic MusculoSkeletal Pain:a Pilot Study Completed NCT01032863
9 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia ("POTS" -- Postural Orthostatic Tachycardia Syndrome)Later in Life -- a Retrospective Analysis Completed NCT01367977
10 Progressive Heavy Shoulder Resistance Training for Patients With Hypermobility Spectrum Disorders and Shoulder Symptoms: a Feasibility Study Completed NCT03547570
11 Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome Completed NCT02712060
12 Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome Completed NCT02435745
13 Evaluation of an Education Program for Patients With Hypermobility Type Ehlers-Danlos Syndrome Completed NCT02817490
14 Ultrasound Screening for Developmental Dysplasia of the Hip in the Neonate: The Effect on Treatment Rate and Prevalence of Late Cases Completed NCT01818934
15 Using Anthropometric Measurements to Predict Orthotic Influence on Gait Parameters in Children With Down Syndrome Completed NCT01598350
16 Validity of Somatosensori Remediation for Postural Control in the Treatment of Ehlers-Danlos Syndrome Hypermobility Type (hEDS) Recruiting NCT04020107
17 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 Recruiting NCT03460613
18 Surgery for Patellofemoral Instability, is There Normal Gait Recruiting NCT02569931
19 POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME AND GASTROINTESTINAL SYMPTOMS: Contribution of Gastrointestinal Peptides Recruiting NCT03263819
20 Shoulder Exercises in Patients With Hypermobility Spectrum Disorder and Long-lasting Shoulder Symptoms: A Randomised Controlled Trial Recruiting NCT03869307
21 Determine the Causative Genetic Variations in Patients With Ehlers-Danlos Syndrome Recruiting NCT03093493
22 Research for Genetic Factors Involved in Congenital Dislocation of Hip: Genome-wide Association Study in Grand West France Recruiting NCT02900482
23 Standing Cognition and Co-morbidities of POTS Evaluation Active, not recruiting NCT03602482
24 Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia Syndrome Active, not recruiting NCT02196376
25 Origins and Impact of EDS in Connective Tissues and Skin Enrolling by invitation NCT02721797
26 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Not yet recruiting NCT03575182

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 29

Anatomical Context for Hypermobile Ehlers-Danlos Syndrome

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

40
Skin, Bone, Heart, Testes, Eye, Lung, Brain

Publications for Hypermobile Ehlers-Danlos Syndrome

Articles related to Hypermobile Ehlers-Danlos Syndrome:

(show top 50) (show all 1181)
# Title Authors PMID Year
1
The 2017 international classification of the Ehlers-Danlos syndromes. 61 24
28306229 2017
2
Measurement properties of clinical assessment methods for classifying generalized joint hypermobility-A systematic review. 61 24
28306223 2017
3
A framework for the classification of joint hypermobility and related conditions. 61 24
28145606 2017
4
Is there any link between joint hypermobility and mitral valve prolapse in patients with fibromyalgia syndrome? 61 24
26216348 2016
5
Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. 61 24
24752348 2014
6
Exercise in children with joint hypermobility syndrome and knee pain: a randomised controlled trial comparing exercise into hypermobile versus neutral knee extension. 61 24
23941143 2013
7
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. 61 24
22696272 2012
8
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients. 61 24
22847925 2012
9
Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study. 61 24
22633352 2012
10
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type and Down syndrome. 61 24
22522202 2012
11
Postural tachycardia syndrome--current experience and concepts. 61 24
22143364 2011
12
Joint hypermobility syndrome: problems that require psychological intervention. 61 24
21373784 2011
13
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type: a kinematic and kinetic evaluation using 3D gait analysis. 61 24
21420276 2011
14
Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome. 61 24
19878973 2010
15
Pain in ehlers-danlos syndrome is common, severe, and associated with functional impairment. 61 24
20579833 2010
16
The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). 61 24
19842204 2009
17
Ehlers-Danlos syndrome: insights on obstetric aspects. 61 24
17176488 2007
18
Hypermobility syndrome increases the risk for low bone mass. 61 24
16311714 2006
19
Oral health in prevalent types of Ehlers-Danlos syndromes. 61 24
15817074 2005
20
Local anaesthetic failure in joint hypermobility syndrome. 61 24
15684369 2005
21
Total knee arthroplasty in Ehlers-Danlos syndrome. 61 24
14973862 2004
22
Dysautonomia in the joint hypermobility syndrome. 61 24
12867232 2003
23
A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. 61 24
12723715 2003
24
Joint hypermobility and genetic collagen disorders: are they related? 61 24
10325741 1999
25
Chronic pain is a manifestation of the Ehlers-Danlos syndrome. 61 24
9262038 1997
26
Clinical and echocardiographic survey of the Ehlers-Danlos syndrome. 61 24
9159540 1997
27
Ehlers Danlos syndrome and gastrointestinal manifestations: a 20-year experience at Mayo Clinic. 52
26376608 2015
28
Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. 52
24994860 2015
29
Reference values for echocardiographic assessment of the diameter of the aortic root and ascending aorta spanning all age categories. 24
25092193 2014
30
Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers-Danlos syndrome. 24
22556148 2012
31
Bilateral anterior and posterior glenohumeral stabilization using Achilles tendon allograft augmentation in a patient with Ehlers-Danlos syndrome. 24
22326542 2012
32
Muscle-tendon tissue properties in the hypermobility type of Ehlers-Danlos syndrome. 24
22232076 2012
33
Balance, gait, falls, and fear of falling in women with the hypermobility type of Ehlers-Danlos syndrome. 24
21793229 2011
34
Gait pattern in two rare genetic conditions characterized by muscular hypotonia: Ehlers-Danlos and Prader-Willi syndrome. 24
21454046 2011
35
Managing chronic pain in a young adolescent girl with Ehlers-Danlos syndrome. 24
21916827 2011
36
Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis. 24
21391202 2011
37
Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome. 24
21636074 2011
38
Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. 24
21193204 2011
39
Pregnancy and delivery in ehlers-danlos syndrome (hypermobility type): review of the literature. 24
21765833 2011
40
Neuropathic pain is a common feature in Ehlers-Danlos syndrome. 24
21145199 2011
41
Both pain and fatigue are important possible determinants of disability in patients with the Ehlers-Danlos syndrome hypermobility type. 24
21077749 2011
42
Ehlers-Danlos syndrome hypermobility type and the excess of affected females: possible mechanisms and perspectives. 24
20684008 2010
43
Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients. 24
20140961 2010
44
Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type). 24
19937459 2010
45
Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type. 24
20156051 2010
46
Desmopressin responsiveness in children with Ehlers-Danlos syndrome associated bleeding symptoms. 24
19036109 2009
47
Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue. 24
18074684 2007
48
Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes. 24
16353246 2006
49
Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. 24
16278880 2005
50
Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations. 24
15733269 2005

Variations for Hypermobile Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Hypermobile Ehlers-Danlos Syndrome:

6 (show all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARID1B NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter)SNV Pathogenic 210306 rs797045283 6:157528243-157528243 6:157207109-157207109
2 RET NM_020975.6(RET):c.2753T>C (p.Met918Thr)SNV Pathogenic 13919 rs74799832 10:43617416-43617416 10:43121968-43121968
3 46;XY;t(7;13)(p15.3;q14.1)dnTranslocation Pathogenic 267837
4 46;XX;inv(7)(q11.23q36.3)dninversion Pathogenic 267882
5 46;XY;t(2;10)(p25;q26)dnTranslocation Pathogenic 268018
6 PLOD1 NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)SNV Pathogenic 374077 rs1057518879 1:12025628-12025628 1:11965571-11965571
7 FBN1 NM_000138.4(FBN1):c.840_843del (p.Asn280fs)deletion Pathogenic 374115 rs1057518909 15:48826296-48826299 15:48534099-48534102
8 COL1A1 NM_000088.3(COL1A1):c.3168del (p.Val1057fs)deletion Pathogenic 523322 rs1555572254 17:48265930-48265930 17:50188569-50188569
9 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523237 1:12019879-12028775
10 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523240 1:12019879-12028775
11 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775)copy number gain Pathogenic 523241 1:12019879-12028775
12 EFEMP1 NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter)SNV Pathogenic 691885 2:56108772-56108772 2:55881637-55881637
13 EFEMP1 NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs)deletion Pathogenic 691884 2:56144993-56144997 2:55917858-55917862
14 FKBP14 NM_017946.3(FKBP14):c.362dup (p.Glu122fs)duplication Pathogenic/Likely pathogenic 279809 rs542489955 7:30058726-30058727 7:30019110-30019111
15 COL1A1 NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys)SNV Pathogenic/Likely pathogenic 17343 rs72645347 17:48273698-48273698 17:50196337-50196337
16 FBN1 NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr)SNV Pathogenic/Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
17 46;XY;inv(7)(p15q34)matinversion Likely pathogenic 267898
18 COL5A1 NM_001278074.1(COL5A1):c.2903del (p.Pro968fs)deletion Likely pathogenic 374067 rs1057518871 9:137690256-137690256 9:134798410-134798410
19 COL5A2 NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)SNV Likely pathogenic 523366 rs1553517323 2:189949930-189949930 2:189085204-189085204
20 COL5A1 NM_001278074.1(COL5A1):c.5150_5158del (p.Asp1717_Glu1719del)deletion Likely pathogenic 523326 rs1554726245 9:137726828-137726836 9:134834982-134834990
21 GRIN2B NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn)SNV Conflicting interpretations of pathogenicity 373930 rs876661151 12:13761545-13761545 12:13608611-13608611
22 NSDHL NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)SNV Uncertain significance 373975 rs142351862 X:152037592-152037592 X:152869048-152869048
23 ZNF469 NM_001367624.1(ZNF469):c.470G>A (p.Gly157Glu)SNV Uncertain significance 320853 rs781096189 16:88494348-88494348 16:88427940-88427940
24 46;XX;t(7;14)(p15;q24)dnTranslocation Uncertain significance 268026
25 46;XX;t(17;18)(p13;p11.2)dnTranslocation Uncertain significance 267859
26 FBN1 NM_000138.4(FBN1):c.139G>A (p.Gly47Ser)SNV Uncertain significance 200029 rs762400500 15:48936828-48936828 15:48644631-48644631
27 COL4A2 NM_001846.4(COL4A2):c.551G>A (p.Gly184Asp)SNV Uncertain significance 523446 rs1555328401 13:111082749-111082749 13:110430402-110430402
28 ZNF469 NM_001367624.1(ZNF469):c.2569A>G (p.Asn857Asp)SNV Uncertain significance 523411 rs1555518955 16:88496447-88496447 16:88430039-88430039
29 ZNF469 NM_001367624.1(ZNF469):c.9532G>A (p.Gly3178Ser)SNV Uncertain significance 523412 rs887755283 16:88503410-88503410 16:88437002-88437002
30 DCHS1 NM_003737.4(DCHS1):c.1679C>T (p.Ser560Phe)SNV Uncertain significance 598956 rs143753116 11:6661166-6661166 11:6639935-6639935
31 DCHS1 NM_003737.4(DCHS1):c.877G>A (p.Glu293Lys)SNV Uncertain significance 598957 rs140867718 11:6661968-6661968 11:6640737-6640737
32 DCHS1 NM_003737.4(DCHS1):c.379G>A (p.Val127Ile)SNV Benign/Likely benign 376786 rs112402535 11:6662466-6662466 11:6641235-6641235

Expression for Hypermobile Ehlers-Danlos Syndrome

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

Pathways for Hypermobile Ehlers-Danlos Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 SNAI1 ILK COL1A1
2
Show member pathways
11.67 TNXB PLOD1 FBN1 EFEMP1 COL1A1
3
Show member pathways
11.32 TNXB FBN1 COL1A1

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 9.33 FKBP14 FBN1 COL1A1
2 collagen-containing extracellular matrix GO:0062023 9.26 TNXB FBN1 EFEMP1 COL1A1
3 extracellular matrix GO:0031012 8.92 TNXB FBN1 EFEMP1 COL1A1

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 transcription, DNA-templated GO:0045893 9.67 SNAI1 RET ILK COL1A1
2 extracellular matrix organization GO:0030198 9.58 TNXB FBN1 COL1A1
3 cellular response to transforming growth factor beta stimulus GO:0071560 9.46 FBN1 COL1A1
4 positive regulation of cell migration GO:0030335 9.46 SNAI1 RET ILK COL1A1
5 positive regulation of epithelial to mesenchymal transition GO:0010718 9.43 SNAI1 COL1A1
6 collagen metabolic process GO:0032963 9.32 TNXB PLOD1
7 embryonic eye morphogenesis GO:0048048 9.26 FBN1 EFEMP1
8 post-embryonic eye morphogenesis GO:0048050 8.96 FBN1 EFEMP1
9 collagen fibril organization GO:0030199 8.8 TNXB PLOD1 COL1A1

Molecular functions related to Hypermobile Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.46 RET FKBP14 FBN1 EFEMP1
2 integrin binding GO:0005178 9.13 TNXB ILK FBN1
3 extracellular matrix structural constituent GO:0005201 8.92 TNXB FBN1 EFEMP1 COL1A1

Sources for Hypermobile Ehlers-Danlos 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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