MCID: EHL001
MIFTS: 56

Ehlers-Danlos Syndrome malady

Genetic diseases, Rare diseases, Skin diseases, Eye diseases, Bone diseases, Fetal diseases, Oral diseases, Cardiovascular diseases categories

Summaries for Ehlers-Danlos Syndrome

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MedlinePlus:32 Ehlers-danlos syndrome (eds) is a group of inherited disorders that weaken connective tissues. connective tissues are proteins that support skin, bones, blood vessels, and other organs. eds usually affects your skin, joints and blood vessel walls. symptoms include loose joints fragile, small blood vessels abnormal scar formation and wound healing soft, velvety, stretchy skin that bruises easily there are several types of eds. they can range from mild to life-threatening. about 1 in 5,000 people has eds. there is no cure. treatment involves managing symptoms, often with medicines and physical therapy. it also includes learning how to protect your joints and prevent injuries.

MalaCards based summary: Ehlers-Danlos Syndrome, also known as eds, is related to hypermobility syndrome and ehlers-danlos syndrome classical type. An important gene associated with Ehlers-Danlos Syndrome is COL3A1 (collagen, type III, alpha 1), and among its related pathways are Senescence and Autophagy and Endothelins. The compounds hydroxylysine and carbodiimide have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and uterus, and related mouse phenotypes are muscle and cardiovascular system.

Disease Ontology:9 A collagen disease and a monogenic disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. eds has five cardinal signs, which may be present to some degree in all of the subtypes. these five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.

Genetics Home Reference:21 Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.

Wikipedia:63 Ehlers?Danlos syndrome (EDS) is an inherited connective tissue disorder with different presentations... more...

Aliases & Classifications for Ehlers-Danlos Syndrome

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Ehlers-Danlos Syndrome, Aliases & Descriptions:

Name: Ehlers-Danlos Syndrome 9 63 41 21 11 43 32 60
Eds 63 41 21
Ehlers Danlos Disease 21 22
Elastic Skin 9 43
 
Ehlers Danlos Syndrome 41
Cutis Hyperelastica 9
Ed Syndrome 41


Classifications:



External Ids:

Disease Ontology9 DOID:13359
MeSH33 D004535
NCIt38 C34568
ICD9CM27 756.83
ICD1025 Q79.6

Related Diseases for Ehlers-Danlos Syndrome

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Diseases in the Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Type Vi Ehlers-Danlos Syndrome, Type Iii
Ehlers-Danlos Syndrome, Type I Ehlers-Danlos Syndrome, Type Ii
Ehlers-Danlos Syndrome, Type Viii Ehlers-Danlos Syndrome, Type Iv
Ehlers-Danlos Syndrome, Type Viic Ehlers-Danlos Syndrome, Type Viib
Autosomal Recessive Type Iv Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Type 5

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

(show top 50)    (show all 304)
idRelated DiseaseScoreTop Affiliating Genes
1hypermobility syndrome31.8TNXB
2ehlers-danlos syndrome classical type31.6COL5A1, COL5A2
3ehlers-danlos syndrome, type iii31.6TNXB, COL3A1
4ehlers-danlos syndrome, type i31.5COL1A1, COL5A1
5ehlers-danlos syndrome, type ii31.4COL5A1, COL3A1
6osteogenesis imperfecta31.1COL1A1, COL3A1, COL1A2
7otosclerosis30.7COL1A2, COL1A1
8nail-patella syndrome30.7COL5A1
9intracranial aneurysm30.5COL3A1, COL1A2
10osteoporosis30.2COL1A2, COL1A1, PLOD1
11dentinogenesis imperfecta29.8COL1A2, COL1A1
12connective tissue disease29.4TNXB, PLOD1, COL5A1, COL1A1, COL3A1, COL1A2
13ehlers-danlos syndrome, type iv11.4
14ehlers-danlos syndrome, type vi11.0
15ehlers-danlos syndrome, type viib11.0
16aneurysm11.0
17ehlers-danlos syndrome, type viic10.9
18ehlers-danlos syndrome, musculocontractural type 110.9
19ehlers-danlos syndrome, type viii10.8
20ehlers-danlos syndrome progeroid type10.8
21ehlers-danlos syndrome dysfibronectinemic type10.8
22ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
23ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency10.7
24ehlers-danlos syndrome type 510.7
25occipital horn syndrome10.6
26ehlers-danlos syndrome, kyphoscoliotic form10.6
27ehlers-danlos syndrome due to tenascin-x deficiency10.6
28ehlers-danlos syndrome, kyphoscoliotic and deafness type10.6
29ehlers-danlos syndrome, musculocontractural type 210.6
30spondylocheirodysplasia, ehlers-danlos syndrome-like10.6
31ehlers-danlos syndrome, cardiac valvular form10.6
32aortic aneurysm10.6
33periodontitis10.6
34ehlers-danlos syndrome, progeroid type, 110.6
35cutis laxa10.6
36cervicitis10.6
37neuropathy10.6
38ehlers-danlos syndrome, progeroid type, 210.5
39autosomal recessive type iv ehlers-danlos syndrome10.5
40myopathy10.5
41ehlers-danlos syndrome kyphoscoliosis type10.5
42ehlers-danlos syndrome beasley cohen type10.5
43joint laxity, familial10.5
44ehlers-danlos syndrome, spondylocheirodysplastic type10.5
45ehlers-danlos syndrome, vascular-like type10.5
46myocardial infarction10.5
47heterotopia, periventricular, ed variant10.5
48polyneuropathy10.5
49ehlers-danlos syndrome, classic type, col5a1-related10.5
50ehlers-danlos syndrome, classic type, col5a2-related10.5

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



Diseases related to ehlers-danlos syndrome

Symptoms for Ehlers-Danlos Syndrome

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Drugs & Therapeutics for Ehlers-Danlos Syndrome

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Drug clinical trials:

Search ClinicalTrials for Ehlers-Danlos Syndrome

Search NIH Clinical Center for Ehlers-Danlos Syndrome

Genetic Tests for Ehlers-Danlos Syndrome

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Genetic tests related to Ehlers-Danlos Syndrome:

id Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome22

Anatomical Context for Ehlers-Danlos Syndrome

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MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

31
Skin, Bone, Uterus, Colon, Liver, Lung, Breast, Testes, Spleen, Small intestine, Brain, Heart, Kidney, Pancreas, Tongue, Trachea

Animal Models for Ehlers-Danlos Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7COL1A2, COL3A1, COL1A1, PLOD1
2MP:00053857.8PLOD1, COL5A1, COL1A1, COL3A1, COL1A2
3MP:00107716.7COL1A2, TNXB, PLOD1, COL5A2, COL5A1, COL1A1
4MP:00107686.6TNXB, PLOD1, COL5A2, COL5A1, COL1A1, COL3A1

Publications for Ehlers-Danlos Syndrome

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Articles related to Ehlers-Danlos Syndrome:

(show top 50)    (show all 781)
idTitleAuthorsYear
1
The role of narrative medicine in the management of joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. (25821096)
2015
2
Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers-danlos syndrome, hypermobility type. (25821092)
2015
3
Transforming Growth Factor-I^ (TGF-I^) and Inflammation in Vascular (Type IV) Ehlers Danlos Syndrome. (24399159)
2014
4
Postural Orthostatic Tachycardia Syndrome (POTS): Association with Ehlers-Danlos Syndrome and Orthopaedic Considerations. (25156902)
2014
5
Foot type analysis based on electronic pedobarography data in individuals with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type during upright standing. (25514270)
2014
6
A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation. (25266621)
2014
7
Ehlers-Danlos syndrome: A showcase of conditions that lead to understanding matrix biology. (23920413)
2013
8
Total knee arthroplasty after former knee fusion in a patient with Ehlers Danlos syndrome. (23926740)
2013
9
Successful surgical treatment of intramural aortoatrial fistula, severe aortic regurgitation, mitral prolapse, and tricuspid insufficiency in a patient with Ehlers-Danlos syndrome type IV. (22698604)
2012
10
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type and Down syndrome. (22522202)
2012
11
Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report. (22787447)
2012
12
Ehlers-danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications. (23016112)
2012
13
Commentary on: Shields LB, Rolf CM, Davis GJ, Hunsaker JC 3rd. Sudden and unexpected death in three cases of Ehlers-Danlos syndrome type IV. J Forensic Sci 2010;55(6):1641-5. (21884125)
2011
14
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type: a kinematic and kinetic evaluation using 3D gait analysis. (21420276)
2011
15
Vascular-type Ehlers-Danlos syndrome presenting as recurrent compartment syndrome. (21982893)
2011
16
Quality of life in the classic and hypermobility types of Ehlers-Danlos syndrome [corrected]. (20186845)
2010
17
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. (20533528)
2010
18
Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment. (21108838)
2010
19
Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome. (20518783)
2010
20
Hemarthrosis due to a rare cause of hemorrhagic diathesis: Ehlers-Danlos syndrome. (18432503)
2008
21
A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome. (18779970)
2008
22
Urological radiographic manifestations of the Ehlers-Danlos syndrome. (17706699)
2007
23
Endovascular repair of an iliac artery aneurysm in a patient with Ehlers-Danlos syndrome type IV. (17210404)
2007
24
Multifaceted dermal ultrastructural clues for Ehlers-Danlos syndrome with arterial rupture and type I collagen R-to-C substitution. (17890912)
2007
25
Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies. (16843123)
2006
26
Ehlers-Danlos syndrome coexisting with juvenile nephronophtisis. (16669972)
2006
27
Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. (16492673)
2006
28
Clinical features of Ehlers-Danlos syndrome. (16801035)
2006
29
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). (16583246)
2006
30
Non-adjacent spondylolisthesis in ehlers-danlos syndrome. (15552563)
2004
31
Vascular Ehlers-Danlos syndrome. (15127738)
2004
32
Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl. (14872341)
2004
33
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation. (15523625)
2004
34
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. (14679583)
2004
35
Fatal cardiovascular complications in a patient with Ehlers-Danlos syndrome type IV and dextrocardia. (12453701)
2002
36
Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations. (12417421)
2002
37
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. (11642233)
2001
38
Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives. (10051163)
1999
39
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I. (9425231)
1998
40
Respiratory complications of Ehlers-Danlos syndrome type IV. (9147885)
1996
41
Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen. (9147870)
1996
42
Ehlers-Danlos syndrome type VII: phenotype and genotype. (7864655)
1994
43
Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. (8019562)
1994
44
Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV. (8477261)
1993
45
A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. (8320698)
1993
46
Ehlers-Danlos Syndrome Type IV (20301667)
1993
47
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. (1867198)
1991
48
Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence. (3277658)
1988
49
Clinical presentations of Ehlers Danlos syndrome type IV. (3178263)
1988
50
Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder. (6705261)
1984

Variations for Ehlers-Danlos Syndrome

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Expression for genes affiliated with Ehlers-Danlos Syndrome

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

Pathways for genes affiliated with Ehlers-Danlos Syndrome

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

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6COL3A1, COL1A1
29.6COL1A2, COL3A1
3
Show member pathways
9.5COL1A2, COL1A1
49.5COL1A1, COL1A2
59.5COL1A1, COL1A2
69.5COL1A2, COL1A1
7
Show member pathways
Metalloproteases in connective tissue degradation
9.1COL1A2, COL3A1, COL1A1
8
Show member pathways
9.1COL1A2, COL3A1, COL1A1
99.1COL1A2, COL3A1, COL1A1
109.1COL1A1, COL3A1, COL1A2
118.0COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
128.0COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
13
Show member pathways
8.0COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
14
Show member pathways
8.0COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
15
Show member pathways
8.0COL1A2, COL3A1, COL1A1, COL5A1, COL5A2
16
Show member pathways
7.6PLOD1, COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
17
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
7.2TNXB, COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
187.2TNXB, COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
19
Show member pathways
6.7COL1A2, TNXB, PLOD1, COL5A2, COL5A1, COL1A1

Compounds for genes affiliated with Ehlers-Danlos Syndrome

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Sources:
43Novoseek, 12DrugBank, 28IUPHAR, 59Tocris Bioscience, 24HMDB
See all sources

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

(show all 14)
idCompoundScoreTop Affiliating Genes
1hydroxylysine439.8COL1A1, PLOD1
2carbodiimide439.7COL1A1, COL1A2
3xbai439.7COL1A1, COL1A2
4ecori439.6COL1A2, COL1A1
5bleomycin43 1210.6COL1A1, PLOD1
6rsai439.6COL1A2, COL1A1
7mspi439.5COL1A1, COL1A2
8nppa439.4COL1A2, COL3A1, COL1A1
9nppb28 43 5911.4COL1A1, COL3A1, COL1A2
10ribonucleic acid439.3COL1A2, COL3A1, COL1A1
11thymidine43 2410.0COL1A2, COL3A1, COL1A1
12procollagen439.0COL1A2, COL3A1, COL1A1, PLOD1
13aspartate439.0COL1A2, COL3A1, COL1A1, PLOD1
14serine438.0TNXB, PLOD1, COL1A1, COL1A2

GO Terms for genes affiliated with Ehlers-Danlos Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:00055849.5COL1A1, COL1A2
2collagen type VGO:00055889.2COL5A1, COL5A2
3extracellular spaceGO:00056158.3COL1A2, COL3A1, COL1A1, TNXB
4endoplasmic reticulum lumenGO:00057888.0COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
5extracellular regionGO:00055767.7COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
6extracellular matrixGO:00310127.3COL1A2, COL3A1, COL1A1, COL5A1, COL5A2, TNXB

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:00435899.6COL1A2, COL1A1
2protein heterotrimerizationGO:00702089.6COL1A1, COL1A2
3transforming growth factor beta receptor signaling pathwayGO:00071799.6COL1A2, COL3A1
4collagen biosynthetic processGO:00329649.6COL1A1, COL5A1
5eye morphogenesisGO:00485929.5COL5A1, COL5A2
6leukocyte migrationGO:00509009.2COL1A2, COL1A1
7platelet activationGO:00301689.2COL1A2, COL3A1, COL1A1
8cell-matrix adhesionGO:00071609.2COL3A1, TNXB
9skin developmentGO:00435889.2COL5A2, COL5A1, COL3A1
10axon guidanceGO:00074119.0COL5A2, COL5A1, COL3A1
11extracellular fibril organizationGO:00432068.9TNXB, COL5A1, COL3A1
12cellular response to amino acid stimulusGO:00712308.9COL1A2, COL3A1, COL1A1, COL5A2
13skeletal system developmentGO:00015018.8COL1A2, COL3A1, COL1A1, COL5A2
14blood vessel developmentGO:00015688.8COL5A1, COL1A1, COL3A1, COL1A2
15collagen catabolic processGO:00305748.3COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
16extracellular matrix disassemblyGO:00226178.3COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
17extracellular matrix organizationGO:00301987.9PLOD1, COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
18collagen fibril organizationGO:00301997.5COL1A2, COL3A1, COL1A1, COL5A1, COL5A2, TNXB

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:00463329.1COL5A2, COL3A1, COL1A2
2heparin bindingGO:00082019.0COL5A1, TNXB
3platelet-derived growth factor bindingGO:00484078.6COL5A1, COL1A1, COL3A1, COL1A2
4integrin bindingGO:00051788.6COL3A1, COL5A1, TNXB
5extracellular matrix structural constituentGO:00052018.1COL1A2, COL3A1, COL1A1, COL5A1, COL5A2
6metal ion bindingGO:00468727.7COL5A2, COL5A1, COL1A1, COL3A1, COL1A2

Products for genes affiliated with Ehlers-Danlos Syndrome

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Sources for Ehlers-Danlos Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet