EDS
MCID: EHL001
MIFTS: 64

Ehlers-Danlos Syndrome (EDS) malady

Genetic diseases, Rare diseases, Skin diseases, Eye diseases, Bone diseases, Fetal diseases, Oral diseases, Cardiovascular diseases categories
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Summaries for Ehlers-Danlos Syndrome

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NIH Rare Diseases:42 Ehlers-danlos syndrome (eds) is a group of disorders that affect connective tissue, which supports the skin, bones, tendons, ligaments, blood vessels, and other organs. the signs and symptoms of eds vary by type and range from mildly loose joints to life-threatening complications. an unusually large range of joint movement (hypermobility) occurs with most forms, particularly the hypermobility type. many people with eds also have soft, velvety skin that is highly elastic and fragile. affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. some forms of eds, notably the vascular type and kyphoscoliosis type, can involve serious and potentially life-threatening complications. eds may be caused by mutations in any one of several genes; the inheritance pattern varies by type. last updated: 3/2/2012

MalaCards based summary: Ehlers-Danlos Syndrome, also known as EDS, is related to ehlers-danlos syndrome, hypermobility type and hypermobility syndrome. 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:8 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.

MedlinePlus:33 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.

Wikipedia:65 Ehlers?Danlos syndrome (EDS) is an inherited connective tissue disorder with different presentations... more...

Descriptions from OMIM:46 225400,130070

Aliases & Classifications for Ehlers-Danlos Syndrome

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Ehlers-Danlos Syndrome, Aliases & Descriptions:

Name: Ehlers-Danlos Syndrome 8 42 21 10 44 33 62
Eds 65 42 21
Ehlers Danlos Syndrome 42 22
Elastic Skin 8 44
 
Ehlers–danlos Syndrome 65
Ehlers Danlos Disease 21
Cutis Hyperelastica 8
Ed Syndrome 42


Classifications:



External Ids:

Disease Ontology8 DOID:13359
MeSH34 D004535
NCIt39 C34568
ICD9CM27 756.83

Related Diseases for Ehlers-Danlos Syndrome

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Diseases in the Ehlers-Danlos Syndrome Type Iv family:

Type Iii Ehlers-Danlos Syndrome Type Vi Ehlers-Danlos Syndrome
Type I Ehlers-Danlos Syndrome ehlers-danlos syndrome
Ehlers-Danlos Syndrome Type 5 Ehlers-Danlos Syndrome, Type Vii
Ehlers-Danlos Syndrome Type Via Ehlers-Danlos Syndrome, Type Viii

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

(show top 50)    (show all 320)
idRelated DiseaseScoreTop Affiliating Genes
1ehlers-danlos syndrome, hypermobility type31.8TNXB, COL3A1
2hypermobility syndrome31.7TNXB
3ehlers–danlos syndrome classical type31.7COL5A1, COL3A1
4osteogenesis imperfecta31.0COL1A1, COL3A1, COL1A2
5otosclerosis30.7COL1A2, COL1A1
6nail-patella syndrome30.7COL5A1
7intracranial aneurysm30.2COL3A1, COL1A2
8osteoporosis30.2COL1A2, COL1A1, PLOD1
9dentinogenesis imperfecta29.8COL1A2, COL1A1
10connective tissue disease29.4TNXB, PLOD1, COL5A1, COL1A1, COL3A1, COL1A2
11ehlers-danlos syndrome type iv11.4
12aneurysm11.0
13ehlers–danlos syndrome arthrochalasia type10.9
14type vi ehlers-danlos syndrome10.8
15ehlers–danlos syndrome dermatosparaxis type10.8
16ehlers-danlos syndrome, type vii10.8
17ehlers-danlos syndrome progeroid type10.8
18ehlers-danlos syndrome, musculocontractural type 110.8
19ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
20type i ehlers-danlos syndrome10.7
21ehlers–danlos syndrome, vascular type10.7
22ehlers-danlos syndrome kyphoscoliotic type10.7
23ehlers-danlos syndrome, type viii10.7
24ehlers-danlos syndrome, progeroid type, 110.7
25type iii ehlers-danlos syndrome10.6
26ehlers-danlos syndrome, kyphoscoliotic form10.6
27ehlers-danlos syndrome, periodontitis type10.6
28ehlers-danlos syndrome, fibronectinemic type10.6
29aortic aneurysm10.6
30ehlers-danlos syndrome dysfibronectinemic type10.6
31occipital horn syndrome10.6
32spondylocheirodysplasia, ehlers-danlos syndrome-like10.6
33ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency10.6
34x-linked ehlers-danlos syndrome10.6
35cutis laxa10.6
36cervicitis10.6
37neuropathy10.6
38periodontitis10.6
39joint laxity, familial10.6
40ehlers-danlos syndrome type via10.6
41myocardial infarction10.5
42myopathy10.5
43ehlers-danlos syndrome type 510.5
44ehlers-danlos syndrome, musculocontractural type 210.5
45ehlers-danlos syndrome, cardiac valvular form10.5
46autosomal dominant type iv ehlers-danlos syndrome10.5
47autosomal recessive type iv ehlers-danlos syndrome10.5
48periventricular nodular heterotopia10.5
49polyneuropathy10.5
50ehlers–danlos syndrome kyphoscoliosis type10.5

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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Clinical features from OMIM:

225400,130070

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:

32
Skin, Bone, Uterus, Colon, Liver, Lung, Breast, Testes, Spleen, Small intestine, Eye, 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:

36
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 751)
idTitleAuthorsYear
1
Transforming Growth Factor-I^ (TGF-I^) and Inflammation in Vascular (Type IV) Ehlers Danlos Syndrome. (24399159)
2014
2
Postural Orthostatic Tachycardia Syndrome (POTS): Association with Ehlers-Danlos Syndrome and Orthopaedic Considerations. (25156902)
2014
3
A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation. (25266621)
2014
4
Ehlers-Danlos syndrome: A showcase of conditions that lead to understanding matrix biology. (23920413)
2013
5
Total knee arthroplasty after former knee fusion in a patient with Ehlers Danlos syndrome. (23926740)
2013
6
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
7
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type and Down syndrome. (22522202)
2012
8
Ehlers-Danlos Syndrome Type VIIC: A Mexican Case Report. (22787447)
2012
9
Ehlers-danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications. (23016112)
2012
10
Gait strategy in patients with Ehlers-Danlos syndrome hypermobility type: a kinematic and kinetic evaluation using 3D gait analysis. (21420276)
2011
11
Vascular-type Ehlers-Danlos syndrome presenting as recurrent compartment syndrome. (21982893)
2011
12
Quality of life in the classic and hypermobility types of Ehlers-Danlos syndrome [corrected]. (20186845)
2010
13
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. (20533528)
2010
14
Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment. (21108838)
2010
15
Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome. (20518783)
2010
16
Muscle characteristics and altered myofascial force transmission in tenascin-X-deficient mice, a mouse model of Ehlers-Danlos syndrome. (20576846)
2010
17
Hemarthrosis due to a rare cause of hemorrhagic diathesis: Ehlers-Danlos syndrome. (18432503)
2008
18
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
19
Urological radiographic manifestations of the Ehlers-Danlos syndrome. (17706699)
2007
20
Endovascular repair of an iliac artery aneurysm in a patient with Ehlers-Danlos syndrome type IV. (17210404)
2007
21
Ehlers-Danlos syndrome type VIII: periodontitis, easy bruising, marfanoid habitus, and distinctive facies. (16843123)
2006
22
Ehlers-Danlos syndrome coexisting with juvenile nephronophtisis. (16669972)
2006
23
Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. (16492673)
2006
24
Clinical features of Ehlers-Danlos syndrome. (16801035)
2006
25
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
26
Incidental myocardial infarction in Ehlers-Danlos syndrome type IV? (15813560)
2005
27
Non-adjacent spondylolisthesis in ehlers-danlos syndrome. (15552563)
2004
28
Vascular Ehlers-Danlos syndrome. (15127738)
2004
29
Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl. (14872341)
2004
30
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation. (15523625)
2004
31
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
32
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. (15211654)
2004
33
Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC). (12969232)
2003
34
Fatal cardiovascular complications in a patient with Ehlers-Danlos syndrome type IV and dextrocardia. (12453701)
2002
35
Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations. (12417421)
2002
36
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. (11642233)
2001
37
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
38
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I. (9425231)
1998
39
Respiratory complications of Ehlers-Danlos syndrome type IV. (9147885)
1996
40
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
41
Ehlers-Danlos syndrome type VII: phenotype and genotype. (7864655)
1994
42
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
43
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
44
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
45
Ehlers-Danlos Syndrome Type IV (20301667)
1993
46
Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. (1867198)
1991
47
Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence. (3277658)
1988
48
Clinical presentations of Ehlers Danlos syndrome type IV. (3178263)
1988
49
Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder. (6705261)
1984
50
Lethal forms of hereditary collagen disorders: Ehlers-Danlos syndrome type IV and congenital osteogenesis imperfecta. (7163269)
1982

Variations for Ehlers-Danlos Syndrome

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Expression for genes affiliated with Ehlers-Danlos Syndrome

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Expression patterns in normal tissues for genes affiliated with Ehlers-Danlos Syndrome

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Pathways for genes affiliated with Ehlers-Danlos Syndrome

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Pathways related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

(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
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 adhesion37
Focal Adhesion37
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:
44Novoseek, 11DrugBank, 28IUPHAR, 61Tocris Bioscience, 24HMDB
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Compounds related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1hydroxylysine449.8COL1A1, PLOD1
2carbodiimide449.7COL1A1, COL1A2
3xbai449.7COL1A1, COL1A2
4ecori449.6COL1A2, COL1A1
5bleomycin44 1110.6COL1A1, PLOD1
6rsai449.6COL1A2, COL1A1
7mspi449.5COL1A1, COL1A2
8nppa449.4COL1A2, COL3A1, COL1A1
9nppb28 44 6111.4COL1A1, COL3A1, COL1A2
10ribonucleic acid449.3COL1A2, COL3A1, COL1A1
11thymidine44 2410.0COL1A2, COL3A1, COL1A1
12procollagen449.0COL1A2, COL3A1, COL1A1, PLOD1
13aspartate449.0COL1A2, COL3A1, COL1A1, PLOD1
14serine448.0TNXB, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:0055849.5COL1A1, COL1A2
2collagen type VGO:0055889.2COL5A1, COL5A2
3extracellular spaceGO:0056158.3COL1A2, COL3A1, COL1A1, TNXB
4endoplasmic reticulum lumenGO:0057888.0COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
5extracellular regionGO:0055767.7COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
6extracellular matrixGO:0310127.3COL1A2, COL3A1, COL1A1, COL5A1, COL5A2, TNXB

Biological processes related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:0435899.6COL1A2, COL1A1
2protein heterotrimerizationGO:0702089.6COL1A1, COL1A2
3transforming growth factor beta receptor signaling pathwayGO:0071799.6COL1A2, COL3A1
4collagen biosynthetic processGO:0329649.6COL1A1, COL5A1
5eye morphogenesisGO:0485929.5COL5A1, COL5A2
6leukocyte migrationGO:0509009.2COL1A2, COL1A1
7platelet activationGO:0301689.2COL1A2, COL3A1, COL1A1
8cell-matrix adhesionGO:0071609.2COL3A1, TNXB
9skin developmentGO:0435889.2COL5A2, COL5A1, COL3A1
10axon guidanceGO:0074119.0COL5A2, COL5A1, COL3A1
11extracellular fibril organizationGO:0432068.9TNXB, COL5A1, COL3A1
12cellular response to amino acid stimulusGO:0712308.9COL1A2, COL3A1, COL1A1, COL5A2
13skeletal system developmentGO:0015018.8COL1A2, COL3A1, COL1A1, COL5A2
14blood vessel developmentGO:0015688.8COL5A1, COL1A1, COL3A1, COL1A2
15collagen catabolic processGO:0305748.3COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
16extracellular matrix disassemblyGO:0226178.3COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
17extracellular matrix organizationGO:0301987.9PLOD1, COL5A2, COL5A1, COL1A1, COL3A1, COL1A2
18collagen fibril organizationGO:0301997.5COL1A2, COL3A1, COL1A1, COL5A1, COL5A2, TNXB

Molecular functions related to Ehlers-Danlos Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:0463329.1COL5A2, COL3A1, COL1A2
2heparin bindingGO:0082019.0COL5A1, TNXB
3platelet-derived growth factor bindingGO:0484078.6COL5A1, COL1A1, COL3A1, COL1A2
4integrin bindingGO:0051788.6COL3A1, COL5A1, TNXB
5extracellular matrix structural constituentGO:0052018.1COL1A2, COL3A1, COL1A1, COL5A1, COL5A2
6metal ion bindingGO:0468727.7COL5A2, 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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet