EDSHMB
MCID: EHL034
MIFTS: 42

Ehlers-Danlos Syndrome, Hypermobility Type (EDSHMB)

Categories: Bone diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Hypermobility Type

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Hypermobility Type:

Name: Ehlers-Danlos Syndrome, Hypermobility Type 56 73 39
Ehlers-Danlos Syndrome, Type 3 12 29 6 71
Ehlers-Danlos Syndrome, Type Iii 56 73 54
Eds Iii 56 58 73
Type Iii Ehlers-Danlos Syndrome 12 15
Benign Hypermobility Syndrome 56 73
Ehlers-Danlos Syndrome Type 3 58 43
Edshmb 56 73
Ehlers-Danlos Syndrome Hypermobility Type 58
Ehlers-Danlos Syndrome, Type Iii; Eds3 56
Hypermobile Ehlers-Danlos Syndrome 58
Eds-Ht 58
Es-D3 17
Eds3 56
Heds 58

Characteristics:

Orphanet epidemiological data:

58
hypermobile ehlers-danlos syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
joint laxity decreases with age
one patient reported with col3a1 mutation


HPO:

31
ehlers-danlos syndrome, hypermobility type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14757
OMIM 56 130020
NCIt 49 C125698
SNOMED-CT 67 30652003
ICD10 32 Q79.62
ICD10 via Orphanet 33 Q79.6
UMLS via Orphanet 72 C0268337
Orphanet 58 ORPHA285
MedGen 41 C0268337
UMLS 71 C0268337

Summaries for Ehlers-Danlos Syndrome, Hypermobility Type

OMIM : 56 The Ehlers-Danlos syndrome shows phenotypic and genetic heterogeneity; see 130000. Marked joint hyperextensibility without skeletal deformity dominates the clinical picture of hypermobility-type EDS. Skin manifestations are relatively inconspicuous. Differentiation from familial joint laxity (147900) is often uncertain. (130020)

MalaCards based summary : Ehlers-Danlos Syndrome, Hypermobility Type, also known as ehlers-danlos syndrome, type 3, is related to ehlers-danlos syndrome and collagen disease. An important gene associated with Ehlers-Danlos Syndrome, Hypermobility Type is TNXB (Tenascin XB). The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are joint dislocation and osteoarthritis

UniProtKB/Swiss-Prot : 73 Ehlers-danlos syndrome, hypermobility type: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. It is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity.

Related Diseases for Ehlers-Danlos Syndrome, Hypermobility Type

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

(show top 50) (show all 125)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 31.5 TNXB SLC39A13
2 collagen disease 29.6 TNXB SLC39A13
3 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 12.3
4 hypermobile ehlers-danlos syndrome 12.2
5 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.9
6 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.9
7 ectodermal dysplasia and immunodeficiency 1 11.7
8 ectodermal dysplasia and immunodeficiency 2 11.5
9 hypohidrotic ectodermal dysplasia with immunodeficiency 11.5
10 clouston syndrome 11.5
11 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.5
12 ectodermal dysplasia 1, hypohidrotic, x-linked 11.2
13 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.2
14 hypohidrotic ectodermal dysplasia autosomal recessive 11.2
15 hypermobility syndrome 11.1
16 chronic pain 10.8
17 fibromyalgia 10.6
18 ectodermal dysplasia 10.6
19 orthostatic intolerance 10.5
20 hypotonia 10.5
21 mast cell activation syndrome 10.5
22 marfan syndrome 10.4
23 brittle bone disorder 10.4
24 obsessive-compulsive personality disorder 10.4
25 personality disorder 10.4
26 constipation 10.4
27 chronic fatigue syndrome 10.4
28 neuropathy 10.4
29 dysautonomia 10.4
30 headache 10.4
31 aortic valve disease 1 10.3
32 hair whorl 10.3
33 attention deficit-hyperactivity disorder 10.3
34 tooth size 10.3
35 exanthem 10.3
36 gastroparesis 10.3
37 polyneuropathy 10.3
38 gingivitis 10.3
39 aortic valve insufficiency 10.3
40 neuromyelitis optica 10.3
41 classic ehlers-danlos syndrome 10.3
42 hidrotic ectodermal dysplasia 2 10.3
43 spondyloarthropathy 1 10.3
44 gastroesophageal reflux 10.3
45 lateral meningocele syndrome 10.3
46 erythermalgia, primary 10.3
47 hand skill, relative 10.3
48 migraine with or without aura 1 10.3
49 pelvic organ prolapse 10.3
50 thrombophilia due to thrombin defect 10.3

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Hypermobility Type:



Diseases related to Ehlers-Danlos Syndrome, Hypermobility Type

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Hypermobility Type

Human phenotypes related to Ehlers-Danlos Syndrome, Hypermobility Type:

58 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 58 31 Very frequent (99-80%) HP:0001373
2 osteoarthritis 58 31 Frequent (79-30%) HP:0002758
3 hyperextensible skin 58 31 Very frequent (99-80%) HP:0000974
4 soft skin 58 31 Frequent (79-30%) HP:0000977
5 inguinal hernia 58 Occasional (29-5%)
6 gingival overgrowth 58 Occasional (29-5%)
7 scoliosis 58 Occasional (29-5%)
8 abnormality of the dentition 58 Occasional (29-5%)
9 umbilical hernia 58 Occasional (29-5%)
10 pes planus 58 Frequent (79-30%)
11 malabsorption 58 Frequent (79-30%)
12 sleep disturbance 58 Very frequent (99-80%)
13 gastroesophageal reflux 58 Occasional (29-5%)
14 fatigue 58 Very frequent (99-80%)
15 acrocyanosis 58 Very frequent (99-80%)
16 arrhythmia 58 Frequent (79-30%)
17 aplasia/hypoplasia of the abdominal wall musculature 58 Occasional (29-5%)
18 subcutaneous nodule 58 Occasional (29-5%)
19 arthralgia 58 Very frequent (99-80%)
20 decreased nerve conduction velocity 58 Frequent (79-30%)
21 microdontia 58 Occasional (29-5%)
22 gingivitis 58 Occasional (29-5%)
23 nausea and vomiting 58 Frequent (79-30%)
24 osteolysis 58 Occasional (29-5%)
25 myalgia 58 Very frequent (99-80%)
26 epicanthus 58 Occasional (29-5%)
27 ptosis 58 Occasional (29-5%)
28 depressivity 58 Frequent (79-30%)
29 atypical scarring of skin 58 Occasional (29-5%)
30 arterial dissection 58 Occasional (29-5%)
31 joint laxity 31 HP:0001388
32 mitral valve prolapse 31 HP:0001634
33 vertigo 58 Very frequent (99-80%)
34 striae distensae 31 HP:0001065
35 dilatation of the ascending aorta 58 Occasional (29-5%)
36 joint hypermobility 31 HP:0001382
37 decreased fertility 58 Occasional (29-5%)
38 constipation 58 Frequent (79-30%)
39 hip dislocation 58 Very frequent (99-80%)
40 joint hyperflexibility 58 Very frequent (99-80%)
41 apnea 58 Occasional (29-5%)
42 paresthesia 58 Occasional (29-5%)
43 anorectal anomaly 58 Occasional (29-5%)
44 abnormality of the foot 58 Very frequent (99-80%)
45 migraine 58 Frequent (79-30%)
46 abnormality of the menstrual cycle 58 Occasional (29-5%)
47 venous insufficiency 58 Occasional (29-5%)
48 wormian bones 58 Very frequent (99-80%)
49 elbow dislocation 58 Very frequent (99-80%)
50 limitation of joint mobility 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
mitral valve prolapse

Skeletal:
joint hypermobility (large and small joints)
recurrent joint dislocations (shoulder, patella, temporomandibular joints)
osteoarthritis (onset 30-40 years)

Skin Nails Hair Skin:
hyperextensible skin
soft skin
sacral striae
no scarring

Clinical features from OMIM:

130020

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Hypermobility Type

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
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 Gastrointestinal Agents Phase 3
9 Methylprednisolone Acetate Phase 3
10 Hormones Phase 3
11 Antineoplastic Agents, Hormonal Phase 3
12 Hormone Antagonists Phase 3
13 Antiemetics Phase 3
14 glucocorticoids Phase 3
15 Neuroprotective Agents Phase 3
16 Anti-Inflammatory Agents Phase 3
17 Protective Agents Phase 3
18 Anti-Infective Agents Phase 3
19 Antiviral Agents Phase 3
20 Analgesics, Opioid
21 Anesthetics

Interventional clinical trials:


# 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 Effectiveness of Wearing a Compression Garment (SED CICATREX® Model) for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Unknown status NCT02144532
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 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
7 Opiod-Free Intravenous Anesthesia for Patients With Joint Hypermobility Syndrome Undergoing Craneo-Cervical Fixation: A Case-series Study Focused on Anti-hyperalgesic Approach Completed NCT04437589
8 Validity of Somatosensori Remediation for Postural Control in the Treatment of Ehlers-Danlos Syndrome Hypermobility Type (hEDS) Recruiting NCT04020107
9 Standing Cognition and Co-morbidities of POTS Evaluation Active, not recruiting NCT03602482
10 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Not yet recruiting NCT03575182

Search NIH Clinical Center for Ehlers-Danlos Syndrome, Hypermobility Type

Cochrane evidence based reviews: ehlers-danlos syndrome type 3

Genetic Tests for Ehlers-Danlos Syndrome, Hypermobility Type

Genetic tests related to Ehlers-Danlos Syndrome, Hypermobility Type:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 3 29

Anatomical Context for Ehlers-Danlos Syndrome, Hypermobility Type

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Hypermobility Type:

40
Skin, Eye, Bone, Heart, Testes

Publications for Ehlers-Danlos Syndrome, Hypermobility Type

Articles related to Ehlers-Danlos Syndrome, Hypermobility Type:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Ehlers-Danlos syndrome hypermobility type and the excess of affected females: possible mechanisms and perspectives. 56 61
20684008 2010
2
Evaluation of the adolescent or adult with some features of Marfan syndrome. 6
22237449 2012
3
Neuromuscular involvement in various types of Ehlers-Danlos syndrome. 56
19557868 2009
4
Hypermobile Ehlers-Danlos Syndrome 6
20301456 2004
5
Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. 56
12180144 2002
6
A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen. 56
7833919 1994
7
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases. 61
32295219 2020
8
Flexible bodies-Restricted lives: A qualitative exploratory study of embodiment in living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. 61
31347287 2019
9
Recognizing and Effectively Managing Hypermobility-Related Conditions. 61
31158283 2019
10
Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study. 61
31318301 2019
11
Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review. 61
29357706 2019
12
Prevalence and frequency of self-perceived systemic features in people with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. 61
30232714 2019
13
Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. 61
29125009 2019
14
Anesthetic Management for Ehlers-Danlos Syndrome, Hypermobility Type Complicated by Local Anesthetic Allergy: A Case Report. 61
30626862 2019
15
Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. 61
28482708 2018
16
The prevalence of generalized and syndromic hypermobility in elite Australian dancers. 61
29655088 2018
17
A multimodal physical therapy approach utilizing the Maitland concept in the management of a patient with cervical and lumbar radiculitis and Ehlers-Danlos syndrome-hypermobility type: A case report. 61
29308941 2018
18
A humanisation approach for the management of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT). 61
28866967 2017
19
Visceroptosis and the Ehlers-Danlos Syndrome. 61
29375940 2017
20
Physical and Psychosocial Characteristics of Current Child Dancers and Nondancers With Systemic Joint Hypermobility: A Descriptive Analysis. 61
28870141 2017
21
Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature. 61
28924124 2017
22
The symptom matrix: Using a formalism-based approach to address complex syndromes systematically. 61
27905201 2017
23
A magnetic resonance imaging study of gastric motor function in patients with dyspepsia associated with Ehlers-Danlos Syndrome-Hypermobility Type: A feasibility study. 61
28568908 2017
24
Ehlers-Danlos hypermobility type in an adult with chronic pain and fatigue: a case study. 61
28781834 2017
25
Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: A review for the gastroenterologist. 61
28086259 2017
26
Update in the Treatment of Chronic Pain within Pediatric Patients. 61
28716513 2017
27
The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers-Danlos syndrome: the impact of proprioception. 61
27339264 2017
28
Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain. 61
28286166 2017
29
Multimodal Chiropractic Care for Pain and Disability in a Patient Diagnosed With Ehlers-Danlos Syndrome-Hypermobility Type: A Case Report. 61
28559755 2017
30
Cognitive impairment in women with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. 61
28180909 2017
31
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. 61
28266107 2017
32
Cardiovascular profile in postural orthostatic tachycardia syndrome and Ehlers-Danlos syndrome type III. 61
28005189 2017
33
Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. 61
28145611 2017
34
Generalized Hyperalgesia in Children and Adults Diagnosed With Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility Type: A Discriminative Analysis. 61
27483212 2017
35
The association between Ehlers-Danlos syndrome-hypermobility type and gastrointestinal symptoms in university students: a cross-sectional study. 61
27683076 2017
36
COL6A5 variants in familial neuropathic chronic itch. 61
28073787 2017
37
Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. 61
28051109 2017
38
Chronic pain in a patient with Ehlers-Danlos syndrome (hypermobility type): The role of myofascial trigger point injections. 61
28167178 2017
39
Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study). 61
28642694 2017
40
The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study. 61
27931013 2017
41
A connective tissue disorder may underlie ESSENCE problems in childhood. 61
27802895 2017
42
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? 61
28286774 2017
43
Clinical challenges in the diagnosis and management of postural tachycardia syndrome. 61
27660311 2016
44
Disability in Adolescents and Adults Diagnosed With Hypermobility-Related Disorders: A Meta-Analysis. 61
26976801 2016
45
Ehlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic Disorder. 61
27824552 2016
46
[Temporomandibular disorders and Ehlers-Danlos syndrome, hypermobility type: A case-control study]. 61
27522240 2016
47
Peripheral nerve block in patients with Ehlers-Danlos syndrome, hypermobility type: a case series. 61
27555128 2016
48
Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. 61
26919608 2016
49
Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome. 61
27094596 2016
50
Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome. 61
27273746 2016

Variations for Ehlers-Danlos Syndrome, Hypermobility Type

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Hypermobility Type:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL3A1 NM_000090.3(COL3A1):c.4096C>T (p.Gln1366Ter)SNV Likely pathogenic 216910 rs863224860 2:189875458-189875458 2:189010732-189010732
2 TNXB NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val)SNV Conflicting interpretations of pathogenicity 217018 rs201397168 6:32036313-32036313 6:32068536-32068536
3 COL3A1 NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg)SNV Conflicting interpretations of pathogenicity 199744 rs144614075 2:189873942-189873942 2:189009216-189009216
4 NOTCH1 NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn)SNV Uncertain significance 222755 rs869025493 9:139417349-139417349 9:136522897-136522897
5 COL3A1 NM_000090.3(COL3A1):c.3462T>G (p.Ser1154Arg)SNV Uncertain significance 424386 rs769100283 2:189872805-189872805 2:189008079-189008079
6 TNXB NM_001365276.2(TNXB):c.2531A>G (p.Gln844Arg)SNV not provided 440954 rs1187997184 6:32056810-32056810 6:32089033-32089033

Expression for Ehlers-Danlos Syndrome, Hypermobility Type

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Hypermobility Type.

Pathways for Ehlers-Danlos Syndrome, Hypermobility Type

GO Terms for Ehlers-Danlos Syndrome, Hypermobility Type

Sources for Ehlers-Danlos Syndrome, Hypermobility Type

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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