MCID: EHL034
MIFTS: 51

Ehlers-Danlos Syndrome, Hypermobility Type

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Hypermobility Type

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

Name: Ehlers-Danlos Syndrome, Hypermobility Type 54 23 24 56 71
Ehlers-Danlos Syndrome, Type 3 12 29 69
Eds Iii 24 56 71
Benign Joint Hypermobility Syndrome 23 56
Ehlers-Danlos Syndrome, Type Iii 71 52
Ehlers-Danlos Syndrome Type Iii 23 24
Ehlers-Danlos Syndrome Type 3 56 42
Eds Hypermobility Type 23 24
Ehlers-Danlos Syndrome, Hypermobile Type 56
Type Iii Ehlers-Danlos Syndrome 12
Benign Hypermobility Syndrome 71
Joint Hypermobility Syndrome 23
Ehlers-Danlos Syndrome 3 71
Joint Hypermobility 29
Eds Type Iii 23
Ht-Eds 56
Bjhs 56
Eds3 71

Characteristics:

Orphanet epidemiological data:

56
ehlers-danlos syndrome, hypermobility type
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
ehlers-danlos syndrome, hypermobility type:
Inheritance autosomal dominant inheritance


GeneReviews:

23
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 Ehlers-Danlos Syndrome, Hypermobility Type

OMIM : 54
The Ehlers-Danlos syndrome shows phenotypic and genetic heterogeneity; see 130000. According to the original Beighton classification (Beighton, 1970), EDS III is the benign hypermobility syndrome. Marked joint hyperextensibility without skeletal deformity dominates the clinical picture. Skin manifestations are relatively inconspicuous. Differentiation from familial joint laxity (147900) is often uncertain. Beighton et al. (1998) reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, including a category of 'unspecified forms.' (130020)

MalaCards based summary : Ehlers-Danlos Syndrome, Hypermobility Type, also known as ehlers-danlos syndrome, type 3, is related to chronic fatigue syndrome and hypermobile ehlers-danlos syndrome, and has symptoms including scoliosis, umbilical hernia and migraine. An important gene associated with Ehlers-Danlos Syndrome, Hypermobility Type is TNXB (Tenascin XB), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. The drug alemtuzumab has been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotype is integument.

UniProtKB/Swiss-Prot : 71 Ehlers-Danlos syndrome 3: 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.

GeneReviews: NBK1279

Related Diseases for Ehlers-Danlos Syndrome, Hypermobility Type

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

Symptoms via clinical synopsis from OMIM:

54

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:
soft skin
hyperextensible skin
no scarring
sacral striae


Clinical features from OMIM:

130020

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

56 32 (show top 50) (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 umbilical hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001537
3 migraine 56 32 frequent (33%) Frequent (79-30%) HP:0002076
4 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
5 wormian bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0002645
6 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
7 hip dislocation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002827
8 apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002104
9 gastroesophageal reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0002020
10 elbow dislocation 56 32 hallmark (90%) Very frequent (99-80%) HP:0003042
11 thin skin 56 32 frequent (33%) Frequent (79-30%) HP:0000963
12 depression 56 32 frequent (33%) Frequent (79-30%) HP:0000716
13 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
14 keratoconus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000563
15 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
16 myalgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003326
17 arrhythmia 56 32 frequent (33%) Frequent (79-30%) HP:0011675
18 malabsorption 56 32 frequent (33%) Frequent (79-30%) HP:0002024
19 osteoarthritis 56 32 frequent (33%) Frequent (79-30%) HP:0002758
20 pes planus 56 32 frequent (33%) Frequent (79-30%) HP:0001763
21 gastrointestinal dysmotility 56 32 occasional (7.5%) Occasional (29-5%) HP:0002579
22 joint hyperflexibility 56 32 hallmark (90%) Very frequent (99-80%) HP:0005692
23 vertigo 56 32 hallmark (90%) Very frequent (99-80%) HP:0002321
24 gingivitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000230
25 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
26 microdontia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000691
27 decreased nerve conduction velocity 56 32 frequent (33%) Frequent (79-30%) HP:0000762
28 tendon rupture 56 32 occasional (7.5%) Occasional (29-5%) HP:0100550
29 acrocyanosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001063
30 arthralgia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002829
31 osteolysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002797
32 soft skin 56 32 frequent (33%) Frequent (79-30%) HP:0000977
33 hyperextensible skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000974
34 joint dislocation 56 32 Very frequent (99-80%) HP:0001373
35 decreased fertility 56 32 occasional (7.5%) Occasional (29-5%) HP:0000144
36 paresthesia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003401
37 keratoconjunctivitis sicca 56 32 occasional (7.5%) Occasional (29-5%) HP:0001097
38 sleep disturbance 56 32 hallmark (90%) Very frequent (99-80%) HP:0002360
39 gingival overgrowth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000212
40 nausea and vomiting 56 32 frequent (33%) Frequent (79-30%) HP:0002017
41 arterial dissection 56 32 occasional (7.5%) Occasional (29-5%) HP:0005294
42 subcutaneous nodule 56 32 occasional (7.5%) Occasional (29-5%) HP:0001482
43 aplasia/hypoplasia of the abdominal wall musculature 56 32 occasional (7.5%) Occasional (29-5%) HP:0010318
44 limitation of joint mobility 56 32 occasional (7.5%) Occasional (29-5%) HP:0001376
45 atypical scarring of skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000987
46 dilatation of the ascending aorta 56 32 occasional (7.5%) Occasional (29-5%) HP:0005111
47 anorectal anomaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0012732
48 abnormality of the menstrual cycle 56 32 occasional (7.5%) Occasional (29-5%) HP:0000140
49 venous insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0005293
50 abnormality of the palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000174

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome, Hypermobility Type:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 COL3A1 FBN1 PLOD1 TNXB

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Hypermobility Type

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 1 216503-57-0

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of Alemtuzumab in Treatment Refractory MS Subjects/Alemtuzumab Naive & Alemtuzumab Experienced Subjects Unknown status NCT01624714 Phase 1 Alemtuzumab;Alemtuzumab immunotherapy
2 Patient Education Program and Ehlers-Danlos Syndrome Completed NCT02817490
3 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life Completed NCT01367977
4 Wearing a Compression Garment for Patients With Hypermobility Type of Ehlers-Danlos Syndrome Recruiting NCT02144532
5 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Recruiting NCT02854098
6 Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients Active, not recruiting NCT02761928
7 Rehabilitation in Multiple Sclerosis - Sometimes Too Much? Not yet recruiting NCT03187847

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:

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 3 29
2 Joint Hypermobility 29
3 Ehlers-Danlos Syndrome, Hypermobility Type 24 TNXB

Anatomical Context for Ehlers-Danlos Syndrome, Hypermobility Type

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

39
Skin, Bone, Heart

Publications for Ehlers-Danlos Syndrome, Hypermobility Type

Articles related to Ehlers-Danlos Syndrome, Hypermobility Type:

(show top 50) (show all 70)
id Title Authors Year
1
Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. ( 28051109 )
2017
2
A magnetic resonance imaging study of gastric motor function in patients with dyspepsia associated with Ehlers-Danlos Syndrome-Hypermobility Type: A feasibility study. ( 28568908 )
2017
3
Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: a review for the gastroenterologist. ( 28086259 )
2017
4
Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study). ( 28642694 )
2017
5
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. ( 28266107 )
2017
6
A humanisation approach for the management of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT). ( 28866967 )
2017
7
Cognitive impairment in women with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 28180909 )
2017
8
Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature. ( 28924124 )
2017
9
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? ( 28286774 )
2017
10
Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. ( 28145611 )
2017
11
The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study. ( 27931013 )
2017
12
Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 28482708 )
2017
13
Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26919608 )
2016
14
Ehlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic Disorder. ( 27824552 )
2016
15
Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome. ( 27273746 )
2016
16
Peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type: a report of 2 cases. ( 26897449 )
2016
17
Peripheral nerve block in patients with Ehlers-Danlos syndrome, hypermobility type: a case series. ( 27555128 )
2016
18
Generalized Hyperalgesia in children and adults diagnosed with Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility type: A discriminative analysis. ( 27483212 )
2016
19
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type. ( 27518164 )
2016
20
Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type. ( 26824670 )
2016
21
Evidence of small fiber neuropathy in a patient with Ehlers-Danlos syndrome, hypermobility-type. ( 26750577 )
2016
22
Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers-Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised. ( 25821094 )
2015
23
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. ( 25821090 )
2015
24
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family. ( 26504261 )
2015
25
Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives. ( 25654988 )
2015
26
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 25655071 )
2015
27
Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26506923 )
2015
28
The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 25821096 )
2015
29
A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers-Danlos syndrome, hypermobility type. ( 25791889 )
2015
30
Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. ( 25821089 )
2015
31
Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge. ( 26316810 )
2015
32
The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 25649985 )
2015
33
PP-5 JOINT HYPERMOBILITY SYNDROME/EHLERS-DANLOS SYNDROME HYPERMOBILITY TYPE AND GASTROINTESTINAL SYMPTOMS. ( 26439570 )
2015
34
Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among flemish physiotherapists. ( 25821093 )
2015
35
Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers-danlos syndrome, hypermobility type. ( 25821092 )
2015
36
Foot type analysis based on electronic pedobarography data in individuals with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type during upright standing. ( 25514270 )
2014
37
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees. ( 25338840 )
2014
38
Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type. ( 24504907 )
2014
39
Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 24752348 )
2014
40
Evaluation of kinesiophobia and its correlations with pain and fatigue in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 23936820 )
2013
41
Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience. ( 24254846 )
2013
42
Ehlers-Danlos syndrome hypermobility type: a possible unifying concept for various functional somatic syndromes. ( 22193218 )
2013
43
Unexpected association between joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type and obsessive-compulsive personality disorder. ( 24272065 )
2013
44
Measuring regularity of human postural sway using approximate entropy and sample entropy in patients with Ehlers-Danlos syndrome hypermobility type. ( 23246558 )
2013
45
Joint hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome, Hypermobility Type): an updated critique. ( 23407074 )
2013
46
Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 24254847 )
2013
47
Use of the Gait Profile Score for the evaluation of patients with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 24095856 )
2013
48
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type. ( 23533212 )
2013
49
Multidisciplinary treatment of disability in ehlers-danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women. ( 23913726 )
2013
50
The multifaceted and complex hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome Hypermobility Type): Evaluation and management through a rehabilitative approach. ( 24045532 )
2013

Variations for Ehlers-Danlos Syndrome, Hypermobility Type

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Hypermobility Type:

71
id Symbol AA change Variation ID SNP ID
1 COL3A1 p.Gly804Ser VAR_001783 rs121912920

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
2 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
3 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
4 COL3A1 NM_000090.3(COL3A1): c.4096C> T (p.Gln1366Ter) single nucleotide variant Likely pathogenic rs863224860 GRCh38 Chromosome 2, 189010732: 189010732
5 TNXB NM_019105.6(TNXB): c.6074A> T (p.Asp2025Val) single nucleotide variant Likely pathogenic rs201397168 GRCh37 Chromosome 6, 32036313: 32036313
6 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic rs542489955 GRCh37 Chromosome 7, 30058727: 30058727
7 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh37 Chromosome 1, 12025628: 12025628
8 GRIN2B NM_000834.4(GRIN2B): c.2002G> A (p.Asp668Asn) single nucleotide variant Pathogenic/Likely pathogenic rs876661151 GRCh38 Chromosome 12, 13608611: 13608611
9 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh37 Chromosome 15, 48826296: 48826299

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

Pathways related to Ehlers-Danlos Syndrome, Hypermobility Type according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 COL3A1 FBN1 PLOD1 TNXB
2
Show member pathways
11.33 FBN1 TNXB
3 10.59 COL3A1 TNXB

GO Terms for Ehlers-Danlos Syndrome, Hypermobility Type

Cellular components related to Ehlers-Danlos Syndrome, Hypermobility Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.33 COL3A1 FBN1 TNXB
2 extracellular matrix GO:0031012 9.13 COL3A1 FBN1 TNXB
3 endoplasmic reticulum lumen GO:0005788 8.8 COL3A1 FBN1 FKBP14

Biological processes related to Ehlers-Danlos Syndrome, Hypermobility Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.16 COL3A1 FBN1
2 collagen fibril organization GO:0030199 8.96 COL3A1 TNXB
3 extracellular matrix organization GO:0030198 8.8 COL3A1 FBN1 TNXB

Molecular functions related to Ehlers-Danlos Syndrome, Hypermobility Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.16 FBN1 TNXB
2 extracellular matrix structural constituent GO:0005201 8.96 COL3A1 FBN1
3 integrin binding GO:0005178 8.8 COL3A1 FBN1 TNXB

Sources for Ehlers-Danlos Syndrome, Hypermobility Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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