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EDSHMB
MCID: EHL034
MIFTS: 43

Ehlers-Danlos Syndrome, Hypermobility Type (EDSHMB)

Categories: Bone diseases, Fetal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Ehlers-Danlos Syndrome, Hypermobility Type

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

Name: Ehlers-Danlos Syndrome, Hypermobility Type 58 60 76
Ehlers-Danlos Syndrome, Type 3 12 30 6 41 74
Ehlers-Danlos Syndrome, Type Iii 58 76 56
Eds Iii 58 60 76
Benign Hypermobility Syndrome 58 76
Ehlers-Danlos Syndrome Type 3 60 45
Edshmb 58 76
Ehlers-Danlos Syndrome, Hypermobile Type 60
Ehlers-Danlos Syndrome, Type Iii; Eds3 58
Benign Joint Hypermobility Syndrome 60
Type Iii Ehlers-Danlos Syndrome 12
Ht-Eds 60
Eds3 58
Bjhs 60

Characteristics:

Orphanet epidemiological data:

60
ehlers-danlos syndrome, hypermobility type
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
ehlers-danlos syndrome, hypermobility type:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Ehlers-Danlos Syndrome, Hypermobility Type

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OMIM : 58 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 hypermobile ehlers-danlos syndrome and hereditary alpha tryptasemia syndrome. An important gene associated with Ehlers-Danlos Syndrome, Hypermobility Type is TNXB (Tenascin XB). The drugs alemtuzumab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are sleep disturbance and fatigue

UniProtKB/Swiss-Prot : 76 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.

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Related Diseases for Ehlers-Danlos Syndrome, Hypermobility Type

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 hypermobile ehlers-danlos syndrome 12.1
2 hereditary alpha tryptasemia syndrome 11.5
3 ehlers-danlos syndrome 11.2
4 hypermobility syndrome 11.1
5 pain - chronic 10.6
6 erythermalgia, primary 10.3
7 down syndrome 10.3
8 celiac disease 1 10.3
9 orthostatic intolerance 10.3
10 postural orthostatic tachycardia syndrome 10.3
11 obsessive-compulsive personality disorder 10.3
12 personality disorder 10.3
13 rheumatic disease 10.3
14 dyspepsia 10.3
15 chronic fatigue syndrome 10.3
16 neuropathy 10.3
17 hemorrhoid 10.3
18 thrombophilia due to thrombin defect 10.2
19 thrombosis 10.2
20 situs inversus 10.2
21 periodontitis 10.2
22 carpal tunnel syndrome 10.0
23 tibial muscular dystrophy, tardive 10.0
24 asthma 10.0
25 mononeuropathy of the median nerve, mild 10.0
26 inguinal hernia 10.0
27 classic ehlers-danlos syndrome 10.0

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



Diseases related to Ehlers-Danlos Syndrome, Hypermobility Type
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Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Hypermobility Type

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

60 33 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sleep disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0002360
2 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
3 arthralgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002829
4 acrocyanosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001063
5 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
6 wormian bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0002645
7 myalgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003326
8 hip dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002827
9 vertigo 60 33 hallmark (90%) Very frequent (99-80%) HP:0002321
10 elbow dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0003042
11 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
12 osteoarthritis 60 33 frequent (33%) Frequent (79-30%) HP:0002758
13 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
14 nausea and vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002017
15 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
16 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
17 malabsorption 60 33 frequent (33%) Frequent (79-30%) HP:0002024
18 arrhythmia 60 33 frequent (33%) Frequent (79-30%) HP:0011675
19 thin skin 60 33 frequent (33%) Frequent (79-30%) HP:0000963
20 decreased nerve conduction velocity 60 33 frequent (33%) Frequent (79-30%) HP:0000762
21 migraine 60 33 frequent (33%) Frequent (79-30%) HP:0002076
22 soft skin 60 33 frequent (33%) Frequent (79-30%) HP:0000977
23 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
24 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
25 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
26 gingival overgrowth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000212
27 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
28 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
29 subcutaneous nodule 60 33 occasional (7.5%) Occasional (29-5%) HP:0001482
30 aplasia/hypoplasia of the abdominal wall musculature 60 33 occasional (7.5%) Occasional (29-5%) HP:0010318
31 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
32 limitation of joint mobility 60 33 occasional (7.5%) Occasional (29-5%) HP:0001376
33 microdontia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000691
34 atypical scarring of skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000987
35 arterial dissection 60 33 occasional (7.5%) Occasional (29-5%) HP:0005294
36 apnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002104
37 paresthesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0003401
38 keratoconjunctivitis sicca 60 33 occasional (7.5%) Occasional (29-5%) HP:0001097
39 decreased fertility 60 33 occasional (7.5%) Occasional (29-5%) HP:0000144
40 anorectal anomaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0012732
41 gingivitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000230
42 abnormality of the menstrual cycle 60 33 occasional (7.5%) Occasional (29-5%) HP:0000140
43 abnormal palate morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0000174
44 osteolysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002797
45 venous insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0005293
46 keratoconus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000563
47 tendon rupture 60 33 occasional (7.5%) Occasional (29-5%) HP:0100550
48 abnormality of the wrist 60 33 occasional (7.5%) Occasional (29-5%) HP:0003019
49 cystocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0100645
50 gastrointestinal dysmotility 60 33 occasional (7.5%) Occasional (29-5%) HP:0002579

Symptoms via clinical synopsis from OMIM:

58
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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 LZTS1 TNXB
Sources

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Hypermobility Type

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 1 216503-57-0
2 Antineoplastic Agents, Immunological Phase 1
3
Phenylephrine Approved 59-42-7 6041
4
Ephedrine Approved 299-42-3 9294
5
Pseudoephedrine Approved 90-82-4 7028
6
Oxymetazoline Approved, Investigational 1491-59-4 4636
7
Isoproterenol Approved, Investigational 7683-59-2 3779
8 Nutrients Not Applicable
9 Antibodies
10 Adrenergic beta-Agonists
11 Peripheral Nervous System Agents
12 Cardiotonic Agents
13 Bronchodilator Agents
14 Vasoconstrictor Agents
15 Nasal Decongestants
16 Adrenergic Agonists
17 Autonomic Agents
18 Neurotransmitter Agents
19 Respiratory System Agents
20 Sympathomimetics
21 Adrenergic Agents
22 Protective Agents
23 Mydriatics
24 Anti-Asthmatic Agents
25 Immunoglobulins
26 Adrenergic alpha-Agonists

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 The Comorbidity of Benign Hypermobility Joint Syndrome and Functional Constipation in Children Unknown status NCT02854098
3 Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome Not yet recruiting NCT03575182 Not Applicable
4 Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life Completed NCT01367977
5 Rehabilitation in Multiple Sclerosis - Sometimes Too Much? Completed NCT03187847
6 Standing Cognition and Co-morbidities of POTS Evaluation Active, not recruiting NCT03602482 Not Applicable
7 Prevalence of FODMAP Intolerance and JHS in FGID and Association With Microbiome, Dyssynergic Defecation and Dietary Intervention Recruiting NCT03460613 Not Applicable
8 Investigation of Hypermobility, Biomarkers, and Pain Generators in Chronic Pain Patients Active, not recruiting NCT02761928
9 POTS Adrenergic Ab (CIHR Aims #1&2) Recruiting NCT02673996 Phenylephrine;Isoproterenol

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

Cochrane evidence based reviews: ehlers-danlos syndrome type 3

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Genetic Tests for Ehlers-Danlos Syndrome, Hypermobility Type

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

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Type 3 30
Sources

Anatomical Context for Ehlers-Danlos Syndrome, Hypermobility Type

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

42
Skin, Bone, Heart
Sources

Publications for Ehlers-Danlos Syndrome, Hypermobility Type

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Articles related to Ehlers-Danlos Syndrome, Hypermobility Type:

(show top 50) (show all 78)
# Title Authors Year
1
Prevalence and frequency of self-perceived systemic features in people with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 30232714 )
2019
2
Anesthetic Management for Ehlers-Danlos Syndrome, Hypermobility Type Complicated by Local Anesthetic Allergy: A Case Report. ( 30626862 )
2019
3
Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 29125009 )
2019
4
Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review. ( 29357706 )
2019
5
Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. ( 28482708 )
2018
6
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
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
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
9
Chronic pain in a patient with Ehlers-Danlos syndrome (hypermobility type): The role of myofascial trigger point injections. ( 28167178 )
2017
10
Cognitive impairment in women with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 28180909 )
2017
11
Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. ( 28266107 )
2017
12
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? ( 28286774 )
2017
13
Multimodal Chiropractic Care for Pain and Disability in a Patient Diagnosed With Ehlers-Danlos Syndrome-Hypermobility Type: A Case Report. ( 28559755 )
2017
14
Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study). ( 28642694 )
2017
15
A humanisation approach for the management of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT). ( 28866967 )
2017
16
Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature. ( 28924124 )
2017
17
Generalized Hyperalgesia in Children and Adults Diagnosed With Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobility Type: A Discriminative Analysis. ( 27483212 )
2017
18
The association between Ehlers-Danlos syndrome-hypermobility type and gastrointestinal symptoms in university students: a cross-sectional study. ( 27683076 )
2017
19
The influence of Ehlers-Danlos syndrome - hypermobility type, on motherhood: A phenomenological, hermeneutical study. ( 27931013 )
2017
20
Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. ( 28051109 )
2017
21
Gastrointestinal disorders in joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type: A review for the gastroenterologist. ( 28086259 )
2017
22
Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26506923 )
2016
23
Evidence of small fiber neuropathy in a patient with Ehlers-Danlos syndrome, hypermobility-type. ( 26750577 )
2016
24
Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type. ( 26824670 )
2016
25
Peripheral nerve blocks in patients with Ehlers-Danlos syndrome, hypermobility type: a report of 2 cases. ( 26897449 )
2016
26
Central sensitization as the mechanism underlying pain in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 26919608 )
2016
27
Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome. ( 27273746 )
2016
28
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type. ( 27518164 )
2016
29
Peripheral nerve block in patients with Ehlers-Danlos syndrome, hypermobility type: a case series. ( 27555128 )
2016
30
Ehlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic Disorder. ( 27824552 )
2016
31
Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge. ( 26316810 )
2015
32
Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family. ( 26504261 )
2015
33
The effects of neuromuscular taping on gait walking strategy in a patient with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type. ( 25649985 )
2015
34
The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 25821096 )
2015
35
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
36
Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists. ( 25821093 )
2015
37
Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 25821092 )
2015
38
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. ( 25821090 )
2015
39
Generalized joint hypermobility, joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type. ( 25821089 )
2015
40
A study of migraine characteristics in joint hypermobility syndrome a.k.a. Ehlers-Danlos syndrome, hypermobility type. ( 25791889 )
2015
41
Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 25655071 )
2015
42
Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type: Update and perspectives. ( 25654988 )
2015
43
Towards a re-thinking of the clinical significance of generalized joint hypermobility, joint hypermobiity syndrome, and Ehlers-Danlos syndrome, hypermobility type. ( 24504907 )
2014
44
Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ( 24752348 )
2014
45
Ehlers-danlos syndrome-hypermobility type and hemorrhoids. ( 24839575 )
2014
46
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
47
Foot type analysis based on electronic pedobarography data in individuals with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type during upright standing. ( 25514270 )
2014
48
Unexpected association between joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type and obsessive-compulsive personality disorder. ( 24272065 )
2014
49
Joint hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome, Hypermobility Type): an updated critique. ( 23407074 )
2013
50
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type. ( 23533212 )
2013
Sources

Variations for Ehlers-Danlos Syndrome, Hypermobility Type

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL3A1 NM_000090.3(COL3A1): c.4096C> T (p.Gln1366Ter) single nucleotide variant Likely pathogenic rs863224860 GRCh37 Chromosome 2, 189875458: 189875458
2 COL3A1 NM_000090.3(COL3A1): c.4096C> T (p.Gln1366Ter) single nucleotide variant Likely pathogenic rs863224860 GRCh38 Chromosome 2, 189010732: 189010732
3 TNXB NM_019105.6(TNXB): c.6074A> T (p.Asp2025Val) single nucleotide variant Likely pathogenic rs201397168 GRCh37 Chromosome 6, 32036313: 32036313
4 TNXB NM_019105.6(TNXB): c.6074A> T (p.Asp2025Val) single nucleotide variant Likely pathogenic rs201397168 GRCh38 Chromosome 6, 32068536: 32068536
5 NOTCH1 NM_017617.5(NOTCH1): c.695C> A (p.Thr232Asn) single nucleotide variant Uncertain significance rs869025493 GRCh38 Chromosome 9, 136522897: 136522897
6 NOTCH1 NM_017617.5(NOTCH1): c.695C> A (p.Thr232Asn) single nucleotide variant Uncertain significance rs869025493 GRCh37 Chromosome 9, 139417349: 139417349
7 TNXB NM_019105.6(TNXB): c.2531A> G (p.Gln844Arg) single nucleotide variant not provided rs1187997184 GRCh38 Chromosome 6, 32089033: 32089033
8 TNXB NM_019105.6(TNXB): c.2531A> G (p.Gln844Arg) single nucleotide variant not provided rs1187997184 GRCh37 Chromosome 6, 32056810: 32056810
9 COL3A1 NM_000090.3(COL3A1): c.3818A> G (p.Lys1273Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144614075 GRCh38 Chromosome 2, 189009216: 189009216
10 COL3A1 NM_000090.3(COL3A1): c.3818A> G (p.Lys1273Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs144614075 GRCh37 Chromosome 2, 189873942: 189873942
Sources

Expression for Ehlers-Danlos Syndrome, Hypermobility Type

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

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Sources

GO Terms for Ehlers-Danlos Syndrome, Hypermobility Type

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Sources

Sources for Ehlers-Danlos Syndrome, Hypermobility Type

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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