EDS3
MCID: EHL034
MIFTS: 56

Ehlers-Danlos Syndrome, Hypermobility Type (EDS3)

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 57 24 59 75
Ehlers-Danlos Syndrome, Type 3 12 29 6 40 73
Ehlers-Danlos Syndrome, Type Iii 57 75 55
Eds Iii 57 59 75
Benign Joint Hypermobility Syndrome 24 59
Benign Hypermobility Syndrome 57 75
Ehlers-Danlos Syndrome Type 3 59 44
Joint Hypermobility 29 6
Eds3 57 75
Ehlers-Danlos Syndrome, Hypermobile Type 59
Ehlers-Danlos Syndrome, Type Iii; Eds3 57
Type Iii Ehlers-Danlos Syndrome 12
Ehlers-Danlos Syndrome Type Iii 24
Joint Hypermobility Syndrome 24
Ehlers-Danlos Syndrome 3 75
Eds Hypermobility Type 24
Eds Type Iii 24
Edshmb 57
Ht-Eds 59
Bjhs 59

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome, hypermobility type
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

57
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:

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 Ehlers-Danlos Syndrome, Hypermobility Type

OMIM : 57 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 hypermobility syndrome and orthostatic intolerance. An important gene associated with Ehlers-Danlos Syndrome, Hypermobility Type is COL1A1 (Collagen Type I Alpha 1 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM-receptor interaction. The drugs alemtuzumab and Ephedrine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are inguinal hernia and abnormality of the menstrual cycle

UniProtKB/Swiss-Prot : 75 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

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 hypermobility syndrome 31.1 COL3A1 TNXB
2 orthostatic intolerance 29.9 FBN1 PLOD1
3 ehlers-danlos syndrome 28.7 COL1A1 COL3A1 FKBP14 PLOD1 TNXB
4 hypermobile ehlers-danlos syndrome 11.8
5 hereditary alpha tryptasemia syndrome 11.3
6 ehlers-danlos syndrome, classic-like 11.1
7 chronic pain 10.4
8 scleroderma, familial progressive 10.4 COL1A1 FBN1
9 larsen-like syndrome 10.3 COL1A1 COL3A1
10 familial abdominal aortic aneurysm 10.3 COL3A1 FBN1
11 ehlers-danlos syndrome, classic type, 1 10.3 COL1A1 COL3A1
12 pelvic organ prolapse 10.3 COL1A1 COL3A1
13 char syndrome 10.2 COL3A1 FBN1
14 spondyloepiphyseal dysplasia congenita 10.2 COL1A1 COL3A1
15 aortic aneurysm, familial thoracic 1 10.2 COL3A1 FBN1
16 erythermalgia, primary 10.1
17 down syndrome 10.1
18 celiac disease 1 10.1
19 aging 10.1
20 postural orthostatic tachycardia syndrome 10.1
21 obsessive-compulsive personality disorder 10.1
22 personality disorder 10.1
23 rheumatic disease 10.1
24 enthesopathy 10.1
25 dyspepsia 10.1
26 cervicitis 10.1
27 chronic fatigue syndrome 10.1
28 neuropathy 10.1
29 brittle bone disorder 10.1 COL1A1 COL3A1
30 hypertelorism 10.1 COL1A1 RET
31 loeys-dietz syndrome 10.0 COL3A1 FBN1
32 bruck syndrome 10.0 COL1A1 PLOD1
33 marfan syndrome 9.9 COL3A1 FBN1
34 tetralogy of fallot 9.8 COL1A1 FBN1 RET
35 autosomal genetic disease 9.7 FBN1 RET
36 pfeiffer syndrome 9.6 COL1A1 COL3A1
37 aneurysm 9.6 COL3A1 FBN1 PLOD1
38 trehalase deficiency 8.8 COL1A1 FBN1 RET TNXB
39 collagen disease 8.2 COL1A1 COL3A1 FBN1 PLOD1 TNXB
40 connective tissue disease 8.2 COL1A1 COL3A1 FBN1 PLOD1 TNXB

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:

57
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

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

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
2 abnormality of the menstrual cycle 59 32 occasional (7.5%) Occasional (29-5%) HP:0000140
3 decreased fertility 59 32 occasional (7.5%) Occasional (29-5%) HP:0000144
4 gingival overgrowth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000212
5 gingivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000230
6 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
7 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
8 keratoconus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000563
9 microdontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000691
10 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
11 decreased nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0000762
12 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
13 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
14 soft skin 59 32 frequent (33%) Frequent (79-30%) HP:0000977
15 atypical scarring of skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000987
16 acrocyanosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001063
17 keratoconjunctivitis sicca 59 32 occasional (7.5%) Occasional (29-5%) HP:0001097
18 joint dislocation 59 32 Very frequent (99-80%) HP:0001373
19 limitation of joint mobility 59 32 occasional (7.5%) Occasional (29-5%) HP:0001376
20 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
21 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
22 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
23 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
24 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
25 gastroesophageal reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0002020
26 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
27 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
28 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
29 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
30 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002360
31 gastrointestinal dysmotility 59 32 occasional (7.5%) Occasional (29-5%) HP:0002579
32 wormian bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002645
33 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
34 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
35 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
36 hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002827
37 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
38 abnormality of the wrist 59 32 occasional (7.5%) Occasional (29-5%) HP:0003019
39 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042
40 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
41 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
42 venous insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0005293
43 arterial dissection 59 32 occasional (7.5%) Occasional (29-5%) HP:0005294
44 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
45 aplasia/hypoplasia of the abdominal wall musculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0010318
46 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
47 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
48 anorectal anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0012732
49 tendon rupture 59 32 occasional (7.5%) Occasional (29-5%) HP:0100550
50 cystocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0100645

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 COL1A1 COL3A1 FBN1 PLOD1 RET TNXB
2 integument MP:0010771 9.65 COL1A1 COL3A1 FBN1 PLOD1 TNXB
3 limbs/digits/tail MP:0005371 9.46 RET COL1A1 FBN1 PLOD1
4 muscle MP:0005369 9.35 COL1A1 COL3A1 FBN1 PLOD1 RET
5 neoplasm MP:0002006 8.92 COL1A1 LZTS1 RET TNXB

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 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 1 216503-57-0
2
Ephedrine Approved 299-42-3 9294
3
Isoproterenol Approved, Investigational 7683-59-2 3779
4
Oxymetazoline Approved, Investigational 1491-59-4 4636
5
Phenylephrine Approved 59-42-7 6041
6
Pseudoephedrine Approved 90-82-4 7028
7 Adrenergic Agents
8 Adrenergic Agonists
9 Adrenergic alpha-Agonists
10 Adrenergic beta-Agonists
11 Anti-Asthmatic Agents
12 Antibodies
13 Autonomic Agents
14 Bronchodilator Agents
15 Immunoglobulins
16 Mydriatics
17 Nasal Decongestants
18 Neurotransmitter Agents
19 Peripheral Nervous System Agents
20 Protective Agents
21 Respiratory System Agents
22 Vasoconstrictor Agents

Interventional clinical trials:


# 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 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life Completed NCT01367977
3 Rehabilitation in Multiple Sclerosis - Sometimes Too Much? Completed NCT03187847
4 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Recruiting NCT02854098
5 Prevalence of FODMAP Intolerance and JHS in FGID and Association With Microbiome, Dyssynergic Defecation and Dietary Intervention Recruiting NCT03460613 Not Applicable
6 POTS Adrenergic Ab (CIHR Aims #1&2) Recruiting NCT02673996 Phenylephrine;Isoproterenol
7 Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients Active, not recruiting NCT02761928
8 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Not yet recruiting NCT03575182 Not Applicable

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 COL3A1
2 Joint Hypermobility 29

Anatomical Context for Ehlers-Danlos Syndrome, Hypermobility Type

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

41
Skin, Bone, Heart

Publications for Ehlers-Danlos Syndrome, Hypermobility Type

Articles related to Ehlers-Danlos Syndrome, Hypermobility Type:

(show top 50) (show all 73)
# Title Authors Year
1
Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review. ( 29357706 )
2018
2
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. ( 29308941 )
2018
3
Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. ( 28051109 )
2017
4
Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study). ( 28642694 )
2017
5
Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 29125009 )
2017
6
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? ( 28286774 )
2017
7
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
8
A humanisation approach for the management of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT). ( 28866967 )
2017
9
Cognitive impairment in women with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 28180909 )
2017
10
Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature. ( 28924124 )
2017
11
Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 28482708 )
2017
12
The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study. ( 27931013 )
2017
13
Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: a review for the gastroenterologist. ( 28086259 )
2017
14
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
15
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. ( 28266107 )
2017
16
Peripheral nerve block in patients with Ehlers-Danlos syndrome, hypermobility type: a case series. ( 27555128 )
2016
17
Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26919608 )
2016
18
Generalized Hyperalgesia in children and adults diagnosed with Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility type: A discriminative analysis. ( 27483212 )
2016
19
Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type. ( 26824670 )
2016
20
Ehlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic Disorder. ( 27824552 )
2016
21
Peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type: a report of 2 cases. ( 26897449 )
2016
22
Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome. ( 27273746 )
2016
23
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type. ( 27518164 )
2016
24
Evidence of small fiber neuropathy in a patient with Ehlers-Danlos syndrome, hypermobility-type. ( 26750577 )
2016
25
Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26506923 )
2015
26
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family. ( 26504261 )
2015
27
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 25655071 )
2015
28
A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers-Danlos syndrome, hypermobility type. ( 25791889 )
2015
29
Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge. ( 26316810 )
2015
30
The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 25649985 )
2015
31
Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among flemish physiotherapists. ( 25821093 )
2015
32
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. ( 25821090 )
2015
33
Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers-danlos syndrome, hypermobility type. ( 25821092 )
2015
34
PP-5 JOINT HYPERMOBILITY SYNDROME/EHLERS-DANLOS SYNDROME HYPERMOBILITY TYPE AND GASTROINTESTINAL SYMPTOMS. ( 26439570 )
2015
35
Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives. ( 25654988 )
2015
36
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
37
Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. ( 25821089 )
2015
38
The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 25821096 )
2015
39
Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 24752348 )
2014
40
Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type. ( 24504907 )
2014
41
Foot type analysis based on electronic pedobarography data in individuals with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type during upright standing. ( 25514270 )
2014
42
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
43
Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 24254847 )
2013
44
Unexpected association between joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type and obsessive-compulsive personality disorder. ( 24272065 )
2013
45
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type. ( 23533212 )
2013
46
Evaluation of kinesiophobia and its correlations with pain and fatigue in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 23936820 )
2013
47
The multifaceted and complex hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome Hypermobility Type): Evaluation and management through a rehabilitative approach. ( 24045532 )
2013
48
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
49
Joint hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome, Hypermobility Type): an updated critique. ( 23407074 )
2013
50
Ehlers-Danlos syndrome, hypermobility type: A characterization of the patients' lived experience. ( 24254846 )
2013

Variations for Ehlers-Danlos Syndrome, Hypermobility Type

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

75
# 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
(show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
2 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh38 Chromosome 10, 43121968: 43121968
3 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh37 Chromosome 17, 48273698: 48273698
4 COL1A1 NM_000088.3(COL1A1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72645347 GRCh38 Chromosome 17, 50196337: 50196337
5 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
6 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
7 COL3A1 NM_000090.3(COL3A1): c.3818A> G (p.Lys1273Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144614075 GRCh37 Chromosome 2, 189873942: 189873942
8 COL3A1 NM_000090.3(COL3A1): c.3818A> G (p.Lys1273Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144614075 GRCh38 Chromosome 2, 189009216: 189009216
9 FBN1 NM_000138.4(FBN1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs762400500 GRCh38 Chromosome 15, 48644631: 48644631
10 FBN1 NM_000138.4(FBN1): c.139G> A (p.Gly47Ser) single nucleotide variant Uncertain significance rs762400500 GRCh37 Chromosome 15, 48936828: 48936828
11 COL3A1 NM_000090.3(COL3A1): c.4096C> T (p.Gln1366Ter) single nucleotide variant Likely pathogenic rs863224860 GRCh37 Chromosome 2, 189875458: 189875458
12 COL3A1 NM_000090.3(COL3A1): c.4096C> T (p.Gln1366Ter) single nucleotide variant Likely pathogenic rs863224860 GRCh38 Chromosome 2, 189010732: 189010732
13 TNXB NM_019105.6(TNXB): c.6074A> T (p.Asp2025Val) single nucleotide variant Likely pathogenic rs201397168 GRCh37 Chromosome 6, 32036313: 32036313
14 TNXB NM_019105.6(TNXB): c.6074A> T (p.Asp2025Val) single nucleotide variant Likely pathogenic rs201397168 GRCh38 Chromosome 6, 32068536: 32068536
15 NOTCH1 NM_017617.4(NOTCH1): c.695C> A (p.Thr232Asn) single nucleotide variant Uncertain significance rs869025493 GRCh38 Chromosome 9, 136522897: 136522897
16 NOTCH1 NM_017617.4(NOTCH1): c.695C> A (p.Thr232Asn) single nucleotide variant Uncertain significance rs869025493 GRCh37 Chromosome 9, 139417349: 139417349
17 46;XY;t(7;13)(p15.3;q14.1)dn Translocation Pathogenic
18 46;XX;t(17;18)(p13;p11.2)dn Translocation Uncertain significance
19 46;XX;inv(7)(q11.23q36.3)dn inversion Pathogenic
20 46;XY;inv(7)(p15q34)mat inversion Likely pathogenic
21 46;XY;t(2;10)(p25;q26)dn Translocation Pathogenic
22 46;XX;t(7;14)(p15;q24)dn Translocation Uncertain significance
23 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic/Likely pathogenic rs542489955 GRCh37 Chromosome 7, 30058727: 30058727
24 FKBP14 NM_017946.3(FKBP14): c.362dupC (p.Glu122Argfs) duplication Pathogenic/Likely pathogenic rs542489955 GRCh38 Chromosome 7, 30019111: 30019111
25 ZNF469 NM_001127464.2(ZNF469): c.470G> A (p.Gly157Glu) single nucleotide variant Uncertain significance rs781096189 GRCh38 Chromosome 16, 88427940: 88427940
26 ZNF469 NM_001127464.2(ZNF469): c.470G> A (p.Gly157Glu) single nucleotide variant Uncertain significance rs781096189 GRCh37 Chromosome 16, 88494348: 88494348
27 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh37 Chromosome 1, 12025628: 12025628
28 PLOD1 NM_000302.3(PLOD1): c.1562G> A (p.Trp521Ter) single nucleotide variant Pathogenic rs1057518879 GRCh38 Chromosome 1, 11965571: 11965571
29 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh37 Chromosome 9, 137690258: 137690258
30 COL5A1 NM_000093.4(COL5A1): c.2903delC (p.Pro968Leufs) deletion Likely pathogenic rs1057518871 GRCh38 Chromosome 9, 134798412: 134798412
31 GRIN2B NM_000834.4(GRIN2B): c.2002G> A (p.Asp668Asn) single nucleotide variant Likely pathogenic rs876661151 GRCh38 Chromosome 12, 13608611: 13608611
32 GRIN2B NM_000834.4(GRIN2B): c.2002G> A (p.Asp668Asn) single nucleotide variant Likely pathogenic rs876661151 GRCh37 Chromosome 12, 13761545: 13761545
33 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh37 Chromosome 15, 48826296: 48826299
34 FBN1 NM_000138.4(FBN1): c.840_843delTGAA (p.Asn280Lysfs) deletion Pathogenic rs1057518909 GRCh38 Chromosome 15, 48534099: 48534102
35 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh37 Chromosome X, 152037592: 152037592
36 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh38 Chromosome X, 152869048: 152869048
37 TNXB NM_019105.6(TNXB): c.2531A> G (p.Gln844Arg) single nucleotide variant not provided GRCh38 Chromosome 6, 32089033: 32089033
38 TNXB NM_019105.6(TNXB): c.2531A> G (p.Gln844Arg) single nucleotide variant not provided GRCh37 Chromosome 6, 32056810: 32056810
39 COL5A2 NM_000393.4(COL5A2): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 189949930: 189949930
40 COL5A2 NM_000393.4(COL5A2): c.754G> T (p.Gly252Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 189085204: 189085204
41 COL5A1 NM_000093.4(COL5A1): c.5150_5158delACGCCGAGG (p.Asp1717_Glu1719del) deletion Likely pathogenic GRCh37 Chromosome 9, 137726830: 137726838
42 COL5A1 NM_000093.4(COL5A1): c.5150_5158delACGCCGAGG (p.Asp1717_Glu1719del) deletion Likely pathogenic GRCh38 Chromosome 9, 134834984: 134834992
43 COL4A2 NM_001846.3(COL4A2): c.551G> A (p.Gly184Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 110430402: 110430402
44 COL4A2 NM_001846.3(COL4A2): c.551G> A (p.Gly184Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 111082749: 111082749
45 ZNF469 NM_001127464.2(ZNF469): c.2569A> G (p.Asn857Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 88496447: 88496447
46 ZNF469 NM_001127464.2(ZNF469): c.2569A> G (p.Asn857Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 88430039: 88430039
47 ZNF469 NM_001127464.2(ZNF469): c.9448G> A (p.Gly3150Ser) single nucleotide variant Uncertain significance rs887755283 GRCh37 Chromosome 16, 88503410: 88503410
48 ZNF469 NM_001127464.2(ZNF469): c.9448G> A (p.Gly3150Ser) single nucleotide variant Uncertain significance rs887755283 GRCh38 Chromosome 16, 88437002: 88437002
49 COL1A1 NM_000088.3(COL1A1): c.3168delC (p.Val1057Leufs) deletion Pathogenic GRCh38 Chromosome 17, 50188569: 50188569
50 COL1A1 NM_000088.3(COL1A1): c.3168delC (p.Val1057Leufs) deletion Pathogenic GRCh37 Chromosome 17, 48265930: 48265930

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.68 COL1A1 COL3A1 FBN1 PLOD1 TNXB
2
Show member pathways
11.31 COL1A1 FBN1 TNXB
3 11.15 COL1A1 COL3A1
4 11.03 COL1A1 COL3A1
5 10.89 COL3A1 TNXB
6 10.67 COL1A1 COL3A1

GO Terms for Ehlers-Danlos Syndrome, Hypermobility Type

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.26 COL1A1 COL3A1 FBN1 FKBP14
2 collagen trimer GO:0005581 9.16 COL1A1 COL3A1
3 extracellular matrix GO:0031012 8.92 COL1A1 COL3A1 FBN1 TNXB

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 wound healing GO:0042060 9.49 COL1A1 COL3A1
2 cellular response to retinoic acid GO:0071300 9.48 COL1A1 RET
3 response to mechanical stimulus GO:0009612 9.46 COL1A1 COL3A1
4 collagen catabolic process GO:0030574 9.43 COL1A1 COL3A1
5 cellular response to transforming growth factor beta stimulus GO:0071560 9.4 COL1A1 FBN1
6 blood vessel development GO:0001568 9.37 COL1A1 COL3A1
7 skeletal system development GO:0001501 9.33 COL1A1 COL3A1 FBN1
8 cellular response to amino acid stimulus GO:0071230 9.32 COL1A1 COL3A1
9 skin development GO:0043588 9.26 COL1A1 COL3A1
10 extracellular matrix organization GO:0030198 9.26 COL1A1 COL3A1 FBN1 TNXB
11 collagen fibril organization GO:0030199 8.8 COL1A1 COL3A1 TNXB

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.33 COL3A1 FBN1 TNXB
2 platelet-derived growth factor binding GO:0048407 8.96 COL1A1 COL3A1
3 extracellular matrix structural constituent GO:0005201 8.8 COL1A1 COL3A1 FBN1

Sources for Ehlers-Danlos Syndrome, Hypermobility Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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